Polycythemia vera differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Polycythemia vera}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Polycythemia_vera]]
{{CMG}}{{AE}}{{MJK}} {{shyam}}
{{CMG}} {{AE}} {{HMHJ}} {{ZAS}} {{MJK}}; {{shyam}}
==Overview==
==Overview==
Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as [[chronic myelogenous leukemia]], [[essential thrombocythemia]], and [[primary myelofibrosis]]. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.
Polycythemia vera must be differentiated from other [[myeloproliferative neoplasms]], such as [[chronic myelogenous leukemia]], [[essential thrombocythemia]], and [[primary myelofibrosis]]. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic [[hypoxia]]. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.


==Differential Diagnosis==
==Differential Diagnosis==
Polycythemia vera must be differentiated from a variety of other conditions.
Polycythemia vera must be differentiated from a variety of other conditions include:<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051  }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015  }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196  }} </ref>


*[[Acute leukemia]]
*[[Essential thrombocythemia]]
*[[Chronic myeloid leukemia]]
*[[Primary myelofibrosis]]
*Secondary polycythemia
==Differentiating Myeloproliferative Disorders==
'''<small>ABBREVIATIONS'''
'''N/A''': Not available, '''NL''': Normal, '''FISH''': Fluorescence in situ hybridization, '''PCR''': Polymerase chain reaction, '''LDH''': Lactate dehydrogenase, '''PUD''': Peptic ulcer disease, '''EPO''': Erythropoietin, '''LFTs''': Liver function tests, '''RFTs''': Renal function tests, '''LAP''': Leukocyte alkaline phosphatase, '''LAD''': Leukocyte alkaline dehydrgenase, '''WBCs''': White blood cells. </small>
<small>
{| class="wikitable"
{| class="wikitable"
!Characteristic/Parameter
! colspan="2" rowspan="4" style="background:#4479BA; color: #FFFFFF;" align="center" + |Myeloproliferative neoplasms (MPN)
!Etiology
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Clinical manifestations
!Symptoms
! colspan="11" style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnosis
!Laboratory abnormalities
! rowspan="4" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
!Physical examination
|-
!Treatment
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Symptoms
!Other associated abnormalities
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical examination
! colspan="9" style="background:#4479BA; color: #FFFFFF;" align="center" + |CBC & Peripheral smear
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Bone marrow biopsy
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other investigations
|-
! colspan="7" style="background:#4479BA; color: #FFFFFF;" align="center" + |WBCs
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Hb
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Plat-<br>elets
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Leuko-cytes</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Blasts</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Left<br>shift</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Baso-<br>phils</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Eosino-<br>phils</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Mono-<br>cytes</small>
! style="background:#4479BA; color: #FFFFFF;" align="center" + |<small>Others</small>
|-
| colspan="2" |[[Chronic myeloid leukemia]]<br>([[CML]]), [[BCR/ABL|BCR-ABL1]]+<ref name="pmid9012696">{{cite journal |vauthors=Savage DG, Szydlo RM, Goldman JM |title=Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period |journal=Br. J. Haematol. |volume=96 |issue=1 |pages=111–6 |date=January 1997 |pmid=9012696 |doi= |url=}}</ref><ref name="pmid26434969">{{cite journal |vauthors=Thompson PA, Kantarjian HM, Cortes JE |title=Diagnosis and Treatment of Chronic Myeloid Leukemia in 2015 |journal=Mayo Clin. Proc. |volume=90 |issue=10 |pages=1440–54 |date=October 2015 |pmid=26434969 |pmc=5656269 |doi=10.1016/j.mayocp.2015.08.010 |url=}}</ref>
|
* <small>Asymptomatic</small>
* <small>Constitutional</small>
* <small>[[Hyperviscosity]]  and/or [[anemia]] related</small>
* <small>[[Bleeding]]</small>
* <small>[[Infection]]</small>
|
* <small>[[Splenomegaly]]<br>(46–76%)</small>
* <small>[[Purpura]]</small>
* <small>[[Anemia]] related</small>
* <small>[[Priapism]]</small>
|↑
|<small><2%</small>
| +
|<small>↑</small>
|<small>↑</small>
|<small>↑</small>
|<small>N/A</small>
|<small>[[Anemia|↓]]</small>
|<small>NL</small>
|
* <small>Hypercellurarity with ↑ [[granuloscytosis]] and ↓ [[erythrocytosis]]</small>
 
* <small>[[Fibrosis]]</small>
|
* <small>[[FISH]] for t(9;22)(q34;q11.2)</small>
* <small>[[Reverse transcriptase]] quantitative [[PCR]] (RQ-PCR) for BCR-ABL</small>
|
* <small>[[Granulocytic]] [[dysplasia]] is minimal/absent</small>
* <small>May present with [[blast]] crisis</small>
* <small>Absolute [[leukocytosis]]</small>  <small>(median of 100,000/µL)</small>
* <small>Classic [[myelocyte]] bulge</small>
* <small>[[thrombocytopenia]] indicates advanced stage</small>
|-
|-
||[[Polycythemia vera (PV)]]
| colspan="2" |[[Chronic neutrophilic leukemia]] ([[CNL]])<ref name="pmid29440636">{{cite journal |vauthors=Szuber N, Tefferi A |title=Chronic neutrophilic leukemia: new science and new diagnostic criteria |journal=Blood Cancer J |volume=8 |issue=2 |pages=19 |date=February 2018 |pmid=29440636 |pmc=5811432 |doi=10.1038/s41408-018-0049-8 |url=}}</ref><ref name="pmid28028025">{{cite journal |vauthors=Maxson JE, Tyner JW |title=Genomics of chronic neutrophilic leukemia |journal=Blood |volume=129 |issue=6 |pages=715–722 |date=February 2017 |pmid=28028025 |pmc=5301820 |doi=10.1182/blood-2016-10-695981 |url=}}</ref><ref name="pmid26366092">{{cite journal |vauthors=Menezes J, Cigudosa JC |title=Chronic neutrophilic leukemia: a clinical perspective |journal=Onco Targets Ther |volume=8 |issue= |pages=2383–90 |date=2015 |pmid=26366092 |pmc=4562747 |doi=10.2147/OTT.S49688 |url=}}</ref>
|
|
* JAK2 mutation (V617F or exon 12 mutation) in more than 95% of cases
* <small>Asymptomatic</small>
* Autonomous erythrocyte production
* <small>Constitutional symptoms</small>
* <small>[[Bleeding]]</small>
* <small>[[Infection]]</small>
|
|
* Erythromelagia
* <small>[[Splenomegaly]]</small>
* Headache
* <small>[[Heptomegaly]]</small>
* Stroke-like symptoms
* <small>[[Purpura]]</small>
* <small>[[Anemia]] related</small>
|↑
|<small>Minimal</small>
| +
|<small>NL</small>
|<small>NL</small>
|<small>NL</small>
|
|
* Elevated [[hemoglobin]]
* <small>↑  [[LDH]]</small>
* Elevated [[red blood cell]] mass
* <small>↑ [[B12]] levels</small>
* Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis)
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytopenia|↓]]</small>
|
|
* [[Ruddy face]]
* <small>Uniforme and intense hypercellularity with minimal to none [[fibrosis]]</small>
* [[Splenomegaly]]
* <small>[[Neutrophil]] toxic granulations and [[Dohle bodies]]</small>
|
|
* Aspirin
* <small>[[FISH]]</small>
* Ruxolitinib
* <small>Imaging for [[hepatosplenomegaly]]</small>
* Hydroxyurea
* Phlebotomy
* Interferon-alpha
|
|
* [[Extramedullary hematopoiesis]]
* <small>Associationed with [[polycythemia vera]] and [[plasma cell disorders]]</small>
* [[Stroke]]
* <small>[[Leukocytosis]] with<br>[[chronic]] [[neutrophilia]]</small>
* [[Venous thrombosis]]
* Can progress to post-PV myelofibrosis and eventually acute leukemia
|-
|-
||[[Essential thrombocythemia (ET)]]
| colspan="2" |[[Polycythemia vera]]<br>([[PV]])<ref name="pmid29194068">{{cite journal |vauthors=Vannucchi AM, Guglielmelli P, Tefferi A |title=Polycythemia vera and essential thrombocythemia: algorithmic approach |journal=Curr. Opin. Hematol. |volume=25 |issue=2 |pages=112–119 |date=March 2018 |pmid=29194068 |doi=10.1097/MOH.0000000000000402 |url=}}</ref><ref name="pmid30252337">{{cite journal |vauthors=Pillai AA, Babiker HM |title= |journal= |volume= |issue= |pages= |date= |pmid=30252337 |doi= |url=}}</ref><ref name="pmid30281843">{{cite journal |vauthors=Tefferi A, Barbui T |title=Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management |journal=Am. J. Hematol. |volume=94 |issue=1 |pages=133–143 |date=January 2019 |pmid=30281843 |doi=10.1002/ajh.25303 |url=}}</ref><ref name="pmid28028026">{{cite journal |vauthors=Rumi E, Cazzola M |title=Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms |journal=Blood |volume=129 |issue=6 |pages=680–692 |date=February 2017 |pmid=28028026 |pmc=5335805 |doi=10.1182/blood-2016-10-695957 |url=}}</ref>
|
|
* Clonal proliferation of megakaryocytes
* <small>Constitutional</small>
* Excess [[platelet]] production
 
* Caused by JAK2 mutation in 50% of cases
* <small>[[Thromboembolism]]<br>and [[bleeding]]</small>
* Caused by CALR mutation in some cases
 
* <small>[[Pruritus]] after<br>a warm bath</small>
* <small>[[PUD]] related</small>
|
|
* Stroke-like symptoms
* <small>Facial ruddiness</small>
* Fatigue
* <small>Related to underlying cause</small>
* Bleeding due to dysfunctional platelets and acquired von Willebrand disease
* <small>[[Splenomegaly]]</small>
* <small>[[Renal]] [[bruit]]</small>
|<small>NL or ↑</small>
|<small>None</small>
| -
|<small>↑ or ↓</small>
|<small>NL or ↑</small>
|<small>NL</small>
|
|
* Elevated total [[platelet]] count
* <small>↓ Serum [[ferritin]]</small>
* <small>↓ [[Folate]] levels</small>
* <small>↑↑ [[B12]] levels</small>
|<small>↑↑</small>
 
|<small>NL</small>
|
|
* [[Splenomegaly]]
* <small>Hypercellularity for age with tri-lineage growth</small>
* Bruising
 
* <small>[[Myelofibrosis]] (in up to 20% of patients)</small>
|
|
* Aspirin
* <small>[[Radioisotope]] studies</small>
* [[Hydroyurea]]
* <small>[[Serum]] [[EPO]] levels</small>
* [[Anagrelide]]
* <small>[[LFTs]]</small>
* <small>[[RFTs]]</small>
* <small>[[Imaging]] studies</small>
|
|
* Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease
* <small>May transform into [[myelofibrosis]] or [[leukemia]]</small>
* Can progress to post-ET myelofibrosis
* Can develop into acute leukemia
|-
|-
||[[Chronic myeloid leukemia (CML)]]
| colspan="2" |[[Primary myelofibrosis]] ([[PMF]])<ref name="pmid26891375">{{cite journal |vauthors=Cervantes F, Correa JG, Hernandez-Boluda JC |title=Alleviating anemia and thrombocytopenia in myelofibrosis patients |journal=Expert Rev Hematol |volume=9 |issue=5 |pages=489–96 |date=May 2016 |pmid=26891375 |doi=10.1586/17474086.2016.1154452 |url=}}</ref><ref>{{cite book | last = Hoffman | first = Ronald | title = Hematology : basic principles and practice | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 9780323357623 }}</ref><ref name="pmid16919893">{{cite journal |vauthors=Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W |title=Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF) |journal=Pathol. Biol. |volume=55 |issue=2 |pages=92–104 |date=March 2007 |pmid=16919893 |doi=10.1016/j.patbio.2006.06.002 |url=}}</ref><ref>{{cite book | last = Hoffman | first = Ronald | title = Hematology : basic principles and practice | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 9780323357623 }}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* <small>[[Bleeding]]</small>
* <small>[[Infection]]</small>
* <small>[[Abdominal]] [[Pain]]</small>
|
|
* Reciprocal translocation of chromosomes 9 and 22
* <small>[[Hepatosplenomegaly]]</small>
* Production of BCR-Abl kinase, which drives cell proliferation
* <small>[[Petechiae]] & [[ecchymoses]]</small>
* <small>Abdominal distension</small>
* <small>[[Lymphadenopathy]]</small>
|↓
|<small>[[Erythroblasts]]</small>
| -
|<small>Absent</small>
|<small>NL</small>
|<small>NL</small>
|
|
* Abdominal pain
* <small>↑ [[LAP]]</small>
* Infections
* <small>↑ [[LAD]]</small>
* Fever
* ↑ <small>[[Uric acid]]</small>
* <small>↑ [[B12]] levels</small>
|[[Anemia|<small>↓</small>]]
|<small>[[Thrombocytopenia|↓]]</small>
|
|
* Elevated total [[white blood cell count]]
* <small>Variable with [[fibrosis]] or hypercellularity</small>
* Elevated [[red blood cell]] count and [[platelet]] count occasionally
* Increased proportion of metamyelocytes and other [[white blood cells]] at various stages of maturation
|
|
* Splenomegaly
* <small>JAK2 mutation</small>
* <small>[[CALR]] [[mutation]]</small>
* <small>[[MPL]] [[mutation]]</small>
|
|
* Imatinib
* <small>[[Bone marrow]] aspiration shows a dry tap</small>
* Dasatinib
* <small>Variable with [[leukocytosis]] or [[leukopenia]]</small>
* Bosutinib
|-
* Nilotinib
| colspan="2" |[[Essential thrombocythemia]] ([[ET]])<ref name="pmidhttp://dx.doi.org/10.1182/blood-2007-04-083501">{{cite journal| author=Schmoldt A, Benthe HF, Haberland G| title=Digitoxin metabolism by rat liver microsomes. | journal=Biochem Pharmacol | year= 1975 | volume= 24 | issue= 17 | pages= 1639-41 | pmid=http://dx.doi.org/10.1182/blood-2007-04-083501 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10  }} </ref><ref>{{Cite journal
* Ponatinib for T315I kinase domain mutation
| author = [[Daniel A. Arber]], [[Attilio Orazi]], [[Robert Hasserjian]], [[Jurgen Thiele]], [[Michael J. Borowitz]], [[Michelle M. Le Beau]], [[Clara D. Bloomfield]], [[Mario Cazzola]] & [[James W. Vardiman]]
* Interferon-alpha
| title = The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
| journal = [[Blood]]
| volume = 127
| issue = 20
| pages = 2391–2405
| year = 2016
| month = May
| doi = 10.1182/blood-2016-03-643544
| pmid = 27069254
}}</ref><ref>{{Cite journal
| author = [[A. Tefferi]], [[R. Fonseca]], [[D. L. Pereira]] & [[H. C. Hoagland]]
| title = A long-term retrospective study of young women with essential thrombocythemia
| journal = [[Mayo Clinic proceedings]]
| volume = 76
| issue = 1
| pages = 22–28
| year = 2001
| month = January
| doi = 10.4065/76.1.22
| pmid = 11155408
}}</ref>
|
|
* Can appear similar to leukemoid reaction
* <small>Headache</small>
* <small>[[Dizziness]]</small>
* <small>[[Visual]] disturbances</small>
* <small>[[Priapism]]</small>
* <small>Acute [[chest pain]]</small>
|
* <small>[[Splenomegaly]]</small>
* <small>[[Skin]] [[bruises]]</small>
|
<small>NL or ↑</small>
|
<small>None</small>
| -
|
<small>↓ or absent</small>
|
<small>NL</small>
|
<small>NL</small>
|
* <small>N/A</small>
|
[[Anemia|<small>↓</small>]]
|
<small>↑↑</small>
|
* <small>Normal/Hypercellular</small>
|
* <small>[[JAK2]] [[mutation]]</small>
* <small>[[CALR]] [[mutation]]</small>
* <small>[[MPL]] [[mutation]]</small>
|
* <small>[[Thrombosis]]</small>
* <small>[[Hemorrhage]]</small>
* <small>[[Pregnancy]] loss</small>
|-
|-
|[[Primary myelofibrosis (PMF)]]
| colspan="2" |[[Chronic eosinophilic leukemia]],<br>not otherwise specified<br>(NOS)<ref name="pmid27512192">{{cite journal |vauthors=Vidyadharan S, Joseph B, Nair SP |title=Chronic Eosinophilic Leukemia Presenting Predominantly with Cutaneous Manifestations |journal=Indian J Dermatol |volume=61 |issue=4 |pages=437–9 |date=2016 |pmid=27512192 |pmc=4966405 |doi=10.4103/0019-5154.185716 |url=}}</ref><ref name="pmid29892549">{{cite journal |vauthors=Hofmans M, Delie A, Vandepoele K, Van Roy N, Van der Meulen J, Philippé J, Moors I |title=A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia |journal=Leuk Res Rep |volume=9 |issue= |pages=45–47 |date=2018 |pmid=29892549 |pmc=5993353 |doi=10.1016/j.lrr.2018.04.001 |url=}}</ref><ref name="pmid23662039">{{cite journal |vauthors=Yamada Y, Rothenberg ME, Cancelas JA |title=Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia |journal=Transl Oncogenomics |volume=1 |issue= |pages=53–63 |date=2006 |pmid=23662039 |pmc=3642145 |doi= |url=}}</ref><ref name="pmid27722133">{{cite journal |vauthors=Kim TH, Gu HJ, Lee WI, Lee J, Yoon HJ, Park TS |title=Chronic eosinophilic leukemia with FIP1L1-PDGFRA rearrangement |journal=Blood Res |volume=51 |issue=3 |pages=204–206 |date=September 2016 |pmid=27722133 |doi=10.5045/br.2016.51.3.204 |url=}}</ref>
|
|
* Clonal disorder of megakaryocytes
* <small>Constitutional</small>
* Excess production TGF-beta and collagen
* <small>[[Rash]]</small>
* <small>[[Rhinitis]]</small>
* <small>[[Gastritis]]</small>
* <small>[[Thromboembolism]]<br>related</small>
|
|
* Fatigue
* <small>[[Hypertension]]</small>
* Abdominal pain
* <small>[[Eczema]], [[mucosal]] [[ulcers]], [[erythema]]</small>
* Early satiety
* <small>[[Angioedema]]</small>
 
* <small>[[Ataxia]]</small>
* <small>[[Anemia]]</small>
* <small>[[Lymphadenopathy]]</small>
* <small>[[Hepatosplenomegaly]]</small>
|<small>[[Leukocytosis|↑]]</small>
|<small>Present</small>
| +
|<small>↑</small>
|<small>↑↑</small>
|<small>↑</small>
|
|
* Decreased [[hemoglobin]] (anemia)
* <small>↑ [[B12]] levels</small>
* Decreased [[platelet]] count (thrombocytopenia)
* ↑ <small>[[LDH]]</small>
* Decreased [[white blood cell]] count (leukopenia)
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytopenia|↓]]</small>
|
|
* [[Splenomegaly]]
* <small>Hypercelluar with  ↑ [[eosinophilic]] precursors, ↑ [[eosinophils]], and atypical [[mononuclear cells]]</small>
* [[Hepatomegaly]]
* [[Pallor]]
* [[Bruising]]
|
|
* [[Hydroxyurea]]
* <small>[[FISH]]</small>
* [[Stem cell transplant]]
* <small>Cytogenetic analysis of purified [[eosinophils]] and [[X-chromosome]] inactivation analysis</small>
* [[Ruxolitinib]]
|
|
* Variable risk for development of acute leukemia
* <small>[[Heart failure]]</small> <small>[[Lung fibrosis]]</small>
* <small>[[Encephalopathy]]</small>
* <small>[[Erythema annulare centrifugam]]</small>
|-
|-
||[[Secondary polycythemia]]
| colspan="2" |[[Myeloproliferative neoplasm|MPN]],<br>unclassifiable
|<small>
*Similar to other<br>[[Myeloproliferative neoplasm|myeloproliferative neoplasms]]</small>
|<small>
*Similar to other<br>[[Myeloproliferative neoplasm|myeloproliferative neoplasms]]</small>
|<small>[[Leukocytosis|↑]]</small>
|<small>Variable</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
|
* [[Congestive heart failure]] (CHF)
* <small>May resemble other<br>[[myeloproliferative neoplasms]]</small>
* [[Interstitial lung disease]] (ILD)
|<small>↓</small>
* [[Obstructive sleep apnea]] (OSA)
|<small>↑</small>
* Smoking
* High altitude living
* Ectopic erythropoietin production from tumor (renal cell carcinoma or hepatocellular carcinoma)
* Chronic hypoxia from a variety of other causes
|
|
* Headache
* <small>↑ [[megakaryocyte]] proliferation with variable hypercellularity in [[granulocytic]] or [[erythrocytic]] cell lines</small>
* Fatigue
* Shortness of breath
|
|
* Elevated [[hemoglobin]]
* <small>N/A</small>
* Increased [[erythropoietin level]]  
|<small>
*Similar to other [[myeloprolifeartive neoplasms]] but do not fulfil the criteria to be classified to a specific type</small>
|-
| colspan="2" |[[Mastocytosis]]<ref name="pmid24262698">{{cite journal |vauthors=Carter MC, Metcalfe DD, Komarow HD |title=Mastocytosis |journal=Immunol Allergy Clin North Am |volume=34 |issue=1 |pages=181–96 |date=February 2014 |pmid=24262698 |pmc=3863935 |doi=10.1016/j.iac.2013.09.001 |url=}}</ref><ref name="pmid29494109">{{cite journal |vauthors=Macri A, Cook C |title= |journal= |volume= |issue= |pages= |date= |pmid=29494109 |doi= |url=}}</ref><ref name="pmid25031064">{{cite journal |vauthors=Lladó AC, Mihon CE, Silva M, Galzerano A |title=Systemic mastocytosis - a diagnostic challenge |journal=Rev Bras Hematol Hemoter |volume=36 |issue=3 |pages=226–9 |date=2014 |pmid=25031064 |pmc=4109736 |doi=10.1016/j.bjhh.2014.03.003 |url=}}</ref><ref name="pmid28031180">{{cite journal |vauthors=Valent P, Akin C, Metcalfe DD |title=Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts |journal=Blood |volume=129 |issue=11 |pages=1420–1427 |date=March 2017 |pmid=28031180 |pmc=5356454 |doi=10.1182/blood-2016-09-731893 |url=}}</ref>
|
|
* [[Crackles]]
* <small>Constitutional</small>
* Cyanosis
 
* Tachypnea
* <small>[[Pruritus]] & [[Flushing]]</small>
* Tachycardia
* <small>[[Urticaria]] & [[Blisters]]</small>
 
* <small>[[Hypotension]] & [[PUD]]</small>
* <small>[[Bleeding]]</small>
* <small>[[Bronchoconstriction]]</small>
 
|
* <small>[[Mastocytosis exanthema]]</small>
* <small>[[Blistering]]</small>
* <small>[[Swelling]]</small>
* <small>[[Lymphadenopathy]]</small>
* <small>[[Bleeding]]</small>
* <small>[[Fibrosis]]</small>
|<small>[[Leukocytosis|↑]]</small>
|<small>None</small>
| -
|<small>NL</small>
|<small>[[Eosinophilia|↑]]</small>
|<small>NL</small>
|
* <small>↑ [[Alkaline phosphatase]]</small>
* <small>↑ [[LDH]]</small>
|<small>[[Anemia|↓]]</small>
|<small>↓ or ↑</small>
|
* <small>Multifocal dense infiltrates of [[mast cells]] with atypical [[morphology]] in >25 %</small>
|
* <small>Cytogenetic analysis for [[c-KIT]] [[receptor]] [[mutations]]</small>
* <small>[[Serum]] [[tryptase]] levels</small>
* <small>24-hour urine test for N-methyl [[histamine]] and 11-beta-[[prostaglandine]]</small>
|
* <small>Skin most commonly involved</small>
* <small>Susceptibility to [[anaphylaxix]]</small>
* <small>[[Osteoporosis]]</small>
|-
| colspan="2" |[[Myeloid]]/[[lymphoid]] [[neoplasms]]<br>with [[eosinophilia]] and rearrangement<br>of [[PDGFR|PDGFRA]], [[PDGFRB]], or [[FGFR1]],<br>or with [[PCM1]]-[[JAK2]]<ref name="KumarChen2015">{{cite journal|last1=Kumar|first1=Kirthi R.|last2=Chen|first2=Weina|last3=Koduru|first3=Prasad R.|last4=Luu|first4=Hung S.|title=Myeloid and Lymphoid Neoplasm With Abnormalities of FGFR1 Presenting With Trilineage Blasts and RUNX1 Rearrangement|journal=American Journal of Clinical Pathology|volume=143|issue=5|year=2015|pages=738–748|issn=1943-7722|doi=10.1309/AJCPUD6W1JLQQMNA}}</ref><ref>{{Cite journal
| author = [[Paolo Strati]], [[Guilin Tang]], [[Dzifa Y. Duose]], [[Saradhi Mallampati]], [[Rajyalakshmi Luthra]], [[Keyur P. Patel]], [[Mohammad Hussaini]], [[Abu-Sayeef Mirza]], [[Rami S. Komrokji]], [[Stephen Oh]], [[John Mascarenhas]], [[Vesna Najfeld]], [[Vivek Subbiah]], [[Hagop Kantarjian]], [[Guillermo Garcia-Manero]], [[Srdan Verstovsek]] & [[Naval Daver]]
| title = Myeloid/lymphoid neoplasms with FGFR1 rearrangement
| journal = [[Leukemia & lymphoma]]
| volume = 59
| issue = 7
| pages = 1672–1676
| year = 2018
| month = July
| doi = 10.1080/10428194.2017.1397663
| pmid = 29119847
}}</ref><ref>{{Cite journal
| author = [[Ximena Montenegro-Garreaud]], [[Roberto N. Miranda]], [[Alexandra Reynolds]], [[Guilin Tang]], [[Sa A. Wang]], [[Mariko Yabe]], [[Wei Wang]], [[Lianghua Fang]], [[Carlos E. Bueso-Ramos]], [[Pei Lin]], [[L. Jeffrey Medeiros]] & [[Xinyan Lu]]
| title = Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase
| journal = [[Human pathology]]
| volume = 65
| pages = 147–156
| year = 2017
| month = July
| doi = 10.1016/j.humpath.2017.05.008
| pmid = 28551329
}}</ref><ref>{{Cite journal
| author = [[Paola Villafuerte-Gutierrez]], [[Montserrat Lopez Rubio]], [[Pilar Herrera]] & [[Eva Arranz]]
| title = A Case of Myeloproliferative Neoplasm with BCR-FGFR1 Rearrangement: Favorable Outcome after Haploidentical Allogeneic Transplantation
| journal = [[Case reports in hematology]]
| volume = 2018
| pages = 5724960
| year = 2018
| month =
| doi = 10.1155/2018/5724960
| pmid = 30647980
}}</ref>
|
* <small>Asymptomatic</small>
* <small>Constitutional</small>
* <small>[[Rash]]</small>
* <small>[[Cough]] & breathlessness</small>
* <small>[[Peripheral neuropathy]]/<br>[[encephalopathy]]</small>
|
* <small>[[Fever]]</small>
* <small>[[Lymphadenopathy]]</small>
| ↑
| <small>NL</small>
| -
| <small>NL</small>
| <small>[[Eosinophilia|↑]]</small>
|<small>[[Monocytosis|↑]]</small>
|
* <small>None</small>
| <small>NL</small>
| <small>[[Thrombocytopenia|↓]]</small>
|
* <small>[[Myeloid]] expansion with [[eosinophilia]]</small>
|
* <small>[[FISH]] shows t(8;13) and t(8;22)</small>
|
* <small>May present or evolve into [[acute myeloid]] or [[lymphoblastic leukemia]]</small>
* <small>[[Leukocytosis]] (30 - 59 × 10<sup>9</sup>/L</small>
|-
| colspan="2" |B-lymphoblastic leukemia/lymphoma<ref name="pmid30107017">{{cite journal |vauthors=Kamiya-Matsuoka C, Garciarena P, Amin HM, Tremont-Lukats IW, de Groot JF |title=B lymphoblastic leukemia/lymphoma presenting as seventh cranial nerve palsy |journal=Neurol Clin Pract |volume=3 |issue=6 |pages=532–534 |date=December 2013 |pmid=30107017 |pmc=6082360 |doi=10.1212/CPJ.0b013e3182a78ef0 |url=}}</ref><ref name="pmid29029550">{{cite journal |vauthors=Zhang X, Rastogi P, Shah B, Zhang L |title=B lymphoblastic leukemia/lymphoma: new insights into genetics, molecular aberrations, subclassification and targeted therapy |journal=Oncotarget |volume=8 |issue=39 |pages=66728–66741 |date=September 2017 |pmid=29029550 |pmc=5630450 |doi=10.18632/oncotarget.19271 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* <small>[[Bleeding]]</small>
* <small>[[Infection]]</small>
* <small>[[Bone pain]]</small>
|
* <small>[[Pallor]]</small>
* <small>[[Petechiae]]</small>
* <small>[[Organomegaly]]</small>
* <small>[[Lymphadenopathy]]</small>
|<small>NL or ↑</small>
|<small>>25%</small>
|<small>N/A</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
* <small>[[Auer rod|Auer bodies]]</small>
|[[Anemia|<small>↓</small>]]
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>Hypercellular with [[blast]] infilteration</small><small>with or without [[myelodysplasia]]</small>
|
|
* Treatment of underlying cause of hypoxia
* <small>[[Cytogenetic analysis]]</small>
* Supplemental oxygen
* <small>[[Flow cytometry]]</small>
* Diuresis for CHF
 
* Steroids for ILD
* <small>[[FISH]]</small>
* Continuous positive airway pressure for OSA
* Smoking cessation or nicotine replacement
* Surgical removal of tumors
|
|
* Variable manifestations given the diverse etiologies
* <small>May present as [[Extramedullary myeloid tumor|extramedullary]] disease ([[Extramedullary Myeloid Cell Tumor|Myeloid sarcoma]])</small>
|-
|-
|}
| colspan="2" |[[Myelodysplastic syndrome|Myelodysplastic syndromes]]<br>([[MDS]])<ref name="pmid24300826">{{cite journal |vauthors=Germing U, Kobbe G, Haas R, Gattermann N |title=Myelodysplastic syndromes: diagnosis, prognosis, and treatment |journal=Dtsch Arztebl Int |volume=110 |issue=46 |pages=783–90 |date=November 2013 |pmid=24300826 |pmc=3855821 |doi=10.3238/arztebl.2013.0783 |url=}}</ref><ref name="pmid26769228">{{cite journal |vauthors=Gangat N, Patnaik MM, Tefferi A |title=Myelodysplastic syndromes: Contemporary review and how we treat |journal=Am. J. Hematol. |volume=91 |issue=1 |pages=76–89 |date=January 2016 |pmid=26769228 |doi=10.1002/ajh.24253 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* <small>[[Bleeding]]</small>
* <small>[[Infection]]</small>
|
* <small>[[Pallor]]</small>
* <small>[[Petechiae]]</small>
* <small>[[Organomegaly]]</small>
|[[Leukopenia|<small>↓</small>]]
|<small>Variable</small>
| -
|<small>↓</small>
|<small>↓</small>
|<small>↓</small>
|
* <small>Macro-ovalocytes</small>
* <small>Basophilic stippling</small>
* [[Howell-Jolly body|<small>Howell-Jolly body</small>]]
|[[Anemia|<small>↓</small>]]
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>Hypercellular</small><small>/ normocellular [[bone marrow]] with [[Dysplastic change|dysplastic]] changes</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>[[Leukemia]] transformation</small>
* <small>Acquired pseudo-Pelger-Huët anomaly</small>
|-
| colspan="2" |[[Acute myeloid leukemia]] ([[AML]])<br>and related [[neoplasms]]<ref name="pmid3864727">{{cite journal |vauthors=Islam A, Catovsky D, Goldman JM, Galton DA |title=Bone marrow biopsy changes in acute myeloid leukaemia. I: Observations before chemotherapy |journal=Histopathology |volume=9 |issue=9 |pages=939–57 |date=September 1985 |pmid=3864727 |doi= |url=}}</ref><ref name="pmid17587881">{{cite journal |vauthors=Orazi A |title=Histopathology in the diagnosis and classification of acute myeloid leukemia, myelodysplastic syndromes, and myelodysplastic/myeloproliferative diseases |journal=Pathobiology |volume=74 |issue=2 |pages=97–114 |date=2007 |pmid=17587881 |doi=10.1159/000101709 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* [[Bleeding|<small>Bleeding</small>]]
* [[Bone pain|<small>Bone pain</small>]]
* [[Joint pain|<small>Joint pain</small>]]
* [[Infections|<small>Infections</small>]]
|
* <small>[[Infection]] related</small>
 
* [[Pallor|<small>Pallor</small>]]
* [[Chloroma|<small>Leukemia cutis</small>]]
* <small>[[Bruising]] & [[Petechia|petechiae]]</small>
* <small>[[Lymphadenopathy]]</small>
 
* [[Hepatomegaly|<small>Hepatosplenomegaly</small>]]
|<small>NL or ↑</small>
|<small>↑</small>
|<small>N/A</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
* <small>↑ [[Potassium]]</small> 
* <small>↑ [[Uric acid]]</small>
* <small>↑ [[Phosphorus]]</small>
* <small>↓ [[Calcium]]</small>
* <small>↑ [[LDH]]</small>
|[[Anemia|<small>↓</small>]]
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>Increased  immature[[myeloid]] [[cells]]</small>
<small>with [[Dysplastic change|dysplasia]]</small>     
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
* <small>[[FISH]]</small>
|
* <small>Common in [[Down syndrome]]</small>
|-
| colspan="2" |[[Blastic plasmacytoid dendritic cell neoplasm|Blastic plasmacytoid<br>dendritic cell neoplasm]]<ref>{{Cite journal
| author = [[F. Julia]], [[T. Petrella]], [[M. Beylot-Barry]], [[M. Bagot]], [[D. Lipsker]], [[L. Machet]], [[P. Joly]], [[O. Dereure]], [[M. Wetterwald]], [[M. d'Incan]], [[F. Grange]], [[J. Cornillon]], [[G. Tertian]], [[E. Maubec]], [[P. Saiag]], [[S. Barete]], [[I. Templier]], [[F. Aubin]] & [[S. Dalle]]
| title = Blastic plasmacytoid dendritic cell neoplasm: clinical features in 90 patients
| journal = [[The British journal of dermatology]]
| volume = 169
| issue = 3
| pages = 579–586
| year = 2013
| month = September
| doi = 10.1111/bjd.12412
| pmid = 23646868
}}</ref><ref>{{Cite journal
| author = [[Livio Pagano]], [[Caterina Giovanna Valentini]], [[Alessandro Pulsoni]], [[Simona Fisogni]], [[Paola Carluccio]], [[Francesco Mannelli]], [[Monia Lunghi]], [[Gianmatteo Pica]], [[Francesco Onida]], [[Chiara Cattaneo]], [[Pier Paolo Piccaluga]], [[Eros Di Bona]], [[Elisabetta Todisco]], [[Pellegrino Musto]], [[Antonio Spadea]], [[Alfonso D'Arco]], [[Stefano Pileri]], [[Giuseppe Leone]], [[Sergio Amadori]] & [[Fabio Facchetti]]
| title = Blastic plasmacytoid dendritic cell neoplasm with leukemic presentation: an Italian multicenter study
| journal = [[Haematologica]]
| volume = 98
| issue = 2
| pages = 239–246
| year = 2013
| month = February
| doi = 10.3324/haematol.2012.072645
| pmid = 23065521
}}</ref><ref>{{Cite journal
| author = [[Joseph D. Khoury]]
| title = Blastic Plasmacytoid Dendritic Cell Neoplasm
| journal = [[Current hematologic malignancy reports]]
| volume = 13
| issue = 6
| pages = 477–483
| year = 2018
| month = December
| doi = 10.1007/s11899-018-0489-z
| pmid = 30350260
}}</ref><ref>{{Cite journal
| author = [[Shinichiro Sukegawa]], [[Mamiko Sakata-Yanagimoto]], [[Ryota Matsuoka]], [[Haruka Momose]], [[Yusuke Kiyoki]], [[Masayuki Noguchi]], [[Naoya Nakamura]], [[Rei Watanabe]], [[Manabu Fujimoto]], [[Yasuhisa Yokoyama]], [[Hidekazu Nishikii]], [[Takayasu Kato]], [[Manabu Kusakabe]], [[Naoki Kurita]], [[Naoshi Obara]], [[Yuichi Hasegawa]] & [[Shigeru Chiba]]
| title = &#91;Blastic plasmacytoid dendritic cell neoplasm accompanied by chronic myelomonocytic leukemia successfully treated with azacitidine&#93;
| journal = <nowiki>[[[Rinsho ketsueki] The Japanese journal of clinical hematology]]</nowiki>
| volume = 59
| issue = 12
| pages = 2567–2573
| year = 2018
| month =
| doi = 10.11406/rinketsu.59.2567
| pmid = 30626790
}}</ref>
|
* <small>[[Cutaneous]] symptoms (brown/purple nodular lesions) on [[face]], [[scalp]], [[lower limb]] & [[trunk]]</small>
|
* <small>Brown/violaceous [[bruise]] like lesions</small>
* <small>[[Lymphadenopathy]]</small>
* <small>[[Splenomegaly]]</small>
| <small>NL</small>
| <small>↑</small>
|
|<small>NL</small>
| <small>NL</small>
| <small>NL</small>
|
* <small>[[Neutropenia]]</small>
| [[Anemia|<small>↓</small>]]
| <small>[[Thrombocytopenia|↓]]</small>
|
* <small>[[Malignant|Malignant cells]]</small>
|
* <small>[[Immunohistochemistry]] or [[flow cytometry]] for [[CD4]] & [[CD56]]</small>
|
* <small>TdT expression positive</small>
* <small>May develop [[chronic myelomonocytic leukemia]] (CMML)</small>
|-
| rowspan="4" |[[Myelodysplastic]]<br>/[[Myeloproliferative neoplasm|myeloproliferative<br>neoplasms]] (MDS/MPN)
|<small>[[Chronic myelomonocytic leukemia]] (CMML)</small><ref name="pmid27185207">{{cite journal |vauthors=Patnaik MM, Tefferi A |title=Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management |journal=Am. J. Hematol. |volume=91 |issue=6 |pages=631–42 |date=June 2016 |pmid=27185207 |doi=10.1002/ajh.24396 |url=}}</ref>
: <ref name="pmid22615103">{{cite journal |vauthors=Parikh SA, Tefferi A |title=Chronic myelomonocytic leukemia: 2012 update on diagnosis, risk stratification, and management |journal=Am. J. Hematol. |volume=87 |issue=6 |pages=610–9 |date=June 2012 |pmid=22615103 |doi=10.1002/ajh.23203 |url=}}</ref><ref name="pmid25869097">{{cite journal |vauthors=Benton CB, Nazha A, Pemmaraju N, Garcia-Manero G |title=Chronic myelomonocytic leukemia: Forefront of the field in 2015 |journal=Crit. Rev. Oncol. Hematol. |volume=95 |issue=2 |pages=222–42 |date=August 2015 |pmid=25869097 |pmc=4859155 |doi=10.1016/j.critrevonc.2015.03.002 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* <small>[[Bleeding]]</small>
* <small>[[Infections]]</small>
* <small>[[Bone]] [[pain]]</small>
* <small>[[Leukemia Cutis]]</small>
|
* <small>[[Organomegaly]]</small>
* <small>[[Bruising]]</small>
|↑
| <small>< 20%</small>
|
|<small>NL</small>
|<small>[[Eosinophilia|↑]]</small>
|↑↑
 
|
* <small>↑ [[LDH]]</small>
 
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>[[Myelodysplastic]] and [[myeloproliferative]] feature</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>Overlapping of both, [[MDS]] and [[MPN]]</small>
* <small>Absolute [[monocytosis]] > 1 × 10<sup>9</sup>/L (defining feature)</small>
 
* <small>MD-CMML:</small><small>[[WBC]] ≤ 13 × 10<sup>9</sup>/L (FAB)</small>
 
* <small> MP-CMML:</small><small>[[WBC]] > 13 × 10<sup>9</sup>/L</small> <small>(FAB)</small>
 
|-
|<small>[[Atypical chronic myeloid leukemia]] (aCML), [[BCR/ABL|BCR-ABL]]1-</small><ref name="pmid26637732">{{cite journal |vauthors=Dao KH, Tyner JW |title=What's different about atypical CML and chronic neutrophilic leukemia? |journal=Hematology Am Soc Hematol Educ Program |volume=2015 |issue= |pages=264–71 |date=2015 |pmid=26637732 |pmc=5266507 |doi=10.1182/asheducation-2015.1.264 |url=}}</ref><ref name="pmid22289493">{{cite journal |vauthors=Muramatsu H, Makishima H, Maciejewski JP |title=Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions |journal=Semin. Oncol. |volume=39 |issue=1 |pages=67–73 |date=February 2012 |pmid=22289493 |pmc=3523950 |doi=10.1053/j.seminoncol.2011.11.004 |url=}}</ref>
|<small>
*Asymptomatic</small>
* Constitutional
* [[Hyperviscosity|Hyperviscosity]]  and/or [[anemia]] related
* [[Bleeding|Bleeding]]
* [[Infection|Infection]]
|<small>
* [[Splenomegaly]]</small>  (46–76%)
* [[Purpura]]
* [[Anemia]] related
* [[Priapism]]
|↑
|<small><20%</small>
| +
|<small><2% of WBCs</small>
|<small>N/A</small>
|<small>N/A</small>
|
* <small>N/A</small>
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>Granulocytic [[hyperplasia]] with prominent [[dysplasia]]</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>Granulocytic [[dysplasia]] is prominent</small>
* <small>Absence of ''[[BCR/ABL|BCR-ABL]]'' or ''PDGFRA'', [[PDGFRB|''PDGFRB'',]] or ''[[FGFR1]]'' rearrangements</small>
* <small>[[WBC]] > 13 × 10<sup>9</sup>/L</small>
|-
|<small>[[Juvenile myelomonocytic leukemia (patient information)|Juvenile myelomonocytic leukemia (]]JMML)</small><ref name="pmid9226148">{{cite journal |vauthors=Aricò M, Biondi A, Pui CH |title=Juvenile myelomonocytic leukemia |journal=Blood |volume=90 |issue=2 |pages=479–88 |date=July 1997 |pmid=9226148 |doi= |url=}}</ref><ref name="pmid80255132">{{cite journal |vauthors=Hasle H |title=Myelodysplastic syndromes in childhood--classification, epidemiology, and treatment |journal=Leuk. Lymphoma |volume=13 |issue=1-2 |pages=11–26 |date=March 1994 |pmid=8025513 |doi=10.3109/10428199409051647 |url=}}</ref>
|
* <small>[[Infections]]</small>
* <small>[[Anemia]] related</small>
|
* <small>[[Hepatosplenomegaly]]</small>
* <small>[[Lymphadenopathy]]</small>
* <small>[[Rash]]</small>
|<small>[[Leukocytosis|↑]]</small>
|<small>↑</small>
|<small>N/A</small>
|<small>N/A</small>
|<small>N/A</small>
|<small>[[Monocytosis|↑]]</small>
|
* <small>↓ [[Serum]] [[Iron]]</small>
* <small>↑ [[Vitamin B12|B12]] levels</small>
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytopenia|↓]]</small>
|
* <small>Hypercelluar with  ↑ [[myeloid cells]] in stages of maturation</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>Polyclonal [[hypergammaglobulinemia]]</small>
|-
|<small>[[MDS]]/[[MPN]] with ring sideroblasts and [[thrombocytosis]] (MDS/MPN-RS-T)</small><ref name="pmid28188970">{{cite journal |vauthors=Patnaik MM, Tefferi A |title=Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management |journal=Am. J. Hematol. |volume=92 |issue=3 |pages=297–310 |date=March 2017 |pmid=28188970 |doi=10.1002/ajh.24637 |url=}}</ref><ref name="pmid30186759">{{cite journal |vauthors=Alshaban A, Padilla O, Philipovskiy A, Corral J, McAlice M, Gaur S |title=Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome |journal=Leuk Res Rep |volume=10 |issue= |pages=37–40 |date=2018 |pmid=30186759 |doi=10.1016/j.lrr.2018.08.001 |url=}}</ref><ref name="pmid30524760">{{cite journal |vauthors=Bouchla A, Papageorgiou SG, Tsakiraki Z, Glezou E, Pavlidis G, Stavroulaki G, Bazani E, Foukas P, Pappa V |title=Plasmablastic Lymphoma in an Immunocompetent Patient with MDS/MPN with Ring Sideroblasts and Thrombocytosis-A Case Report |journal=Case Rep Hematol |volume=2018 |issue= |pages=2525070 |date=2018 |pmid=30524760 |pmc=6247723 |doi=10.1155/2018/2525070 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] related</small>
* <small>[[Thrombosis]]</small>
 
|
* <small>Variable</small>
|<small>NL or ↑</small>
|<small>NL</small>
| -
|<small>NL</small>
|<small>N/A</small>
|<small>N/A</small>
|
* ↑ <small>[[Serum]] [[Iron]]</small>
|<small>[[Anemia|↓]]</small>
|<small>[[Thrombocytosis|↑]]</small>
|
* <small>Hypercellularity with [[dyserythropoiesis]] and increased [[megakaryocytes]]</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>Large atypical [[megakaryocytes]]</small>
 
* <small>Ringed [[sideroblasts]]</small>
* <small>[[SF3B1]] [[mutation]]</small>
|-
| rowspan="3" |T-lymphoblastic leukemia/<br>lymphoma
*
*
|<small>T-lymphoblastic leukemia/<br>lymphoma</small><ref name="pmid26276771">{{cite journal |vauthors=You MJ, Medeiros LJ, Hsi ED |title=T-lymphoblastic leukemia/lymphoma |journal=Am. J. Clin. Pathol. |volume=144 |issue=3 |pages=411–22 |date=September 2015 |pmid=26276771 |doi=10.1309/AJCPMF03LVSBLHPJ |url=}}</ref><ref name="pmid19284608">{{cite journal |vauthors=Patel KJ, Latif SU, de Calaca WM |title=An unusual presentation of precursor T cell lymphoblastic leukemia/lymphoma with cholestatic jaundice: case report |journal=J Hematol Oncol |volume=2 |issue= |pages=12 |date=March 2009 |pmid=19284608 |pmc=2663564 |doi=10.1186/1756-8722-2-12 |url=}}</ref><ref name="pmid24822133">{{cite journal |vauthors=Elreda L, Sandhu M, Sun X, Bekele W, Cohen AJ, Shah M |title=T-cell lymphoblastic leukemia/lymphoma: relapse 16 years after first remission |journal=Case Rep Hematol |volume=2014 |issue= |pages=359158 |date=2014 |pmid=24822133 |pmc=4005062 |doi=10.1155/2014/359158 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] Related</small>
* <small>[[Bleeding]]</small>
* <small>[[Superior vena cava syndrome]]</small>
|
* <small>[[Lymphadenopathy]]</small>
* <small>[[Mediastinal mass]]</small>
*  <small>[[Pleural effusions]]</small>
* <small>[[Trachea|Tracheal]] obstruction</small>
* <small>[[Pericardial effusions]]</small>
|<small>↑</small>
|<small>>25% [[Blast|blasts]] ([[Leukemia]])</small>


<small><25% [[Blast|blasts]] ([[Lymphoma]])</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
* ↑ <small>[[LDH]]</small>
* <small>Positive for TdT</small>
|<small>↓</small>
|<small>↓</small>
|
* <small>Hypercelluarity with increased [[T cells]] precursors</small>
|
* <small>[[Cytogenetic analysis]]</small><small>[[Flow cytometry]]</small>
* <small>[[FISH]]</small>
|
* <small>May involve [[brain]], [[skin]], and [[testes]].</small>
|-
|<small>Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph</small><ref name="pmid28868017">{{cite journal |vauthors=Sedick Q, Alotaibi S, Alshieban S, Naheet KB, Elyamany G |title=Natural Killer Cell Lymphoblastic Leukaemia/Lymphoma: Case Report and Review of the Recent Literature |journal=Case Rep Oncol |volume=10 |issue=2 |pages=588–595 |date=2017 |pmid=28868017 |doi=10.1159/000477843 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] Related</small>
* <small>[[Bleeding]]</small>
* <small>[[Superior vena cava syndrome]]</small>
|
* <small>[[Lymphadenopathy]]</small>
* <small>[[Mediastinal mass]]</small>
*  <small>[[Pleural effusions]]</small>
* <small>[[Trachea|Tracheal]] obstruction</small>
* <small>[[Pericardial effusions]]</small>
|<small>↑</small>
|<small>↑</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
* ↑ <small>[[LDH]]</small>
|<small>↓</small>
|<small>↓</small>
|
* <small>N/A</small>
|
* <small>[[Cytogenetic analysis]]</small>


:<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051  }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015 }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196  }} </ref>
* <small>[[FISH]]</small>
*[[Chronic myelogenous leukemia]]
* <small>[[Flow cytometry]]</small>
*[[Essential thrombocythemia]]
|
*[[Primary myelofibrosis]]
* <small>Similar to [[T-cell]] lymphoblastic [[leukemia]] but may have more aggressive clinical course.</small>
* <small>[[Diagnosis]] is usually based on presence of [[CD56]] expression, and  [[T-cell]]-associated markers such as [[CD2]] and [[CD7]].</small>
*  <small>[[B cell|B-cell]] markers are absent.</small>
|-
|<small>Provisional entity: Early T-cell precursor lymphoblastic leukemia</small><ref name="pmid26747249">{{cite journal |vauthors=Jain N, Lamb AV, O'Brien S, Ravandi F, Konopleva M, Jabbour E, Zuo Z, Jorgensen J, Lin P, Pierce S, Thomas D, Rytting M, Borthakur G, Kadia T, Cortes J, Kantarjian HM, Khoury JD |title=Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) in adolescents and adults: a high-risk subtype |journal=Blood |volume=127 |issue=15 |pages=1863–9 |date=April 2016 |pmid=26747249 |pmc=4915808 |doi=10.1182/blood-2015-08-661702 |url=}}</ref><ref name="pmid23695450">{{cite journal |vauthors=Haydu JE, Ferrando AA |title=Early T-cell precursor acute lymphoblastic leukaemia |journal=Curr. Opin. Hematol. |volume=20 |issue=4 |pages=369–73 |date=July 2013 |pmid=23695450 |pmc=3886681 |doi=10.1097/MOH.0b013e3283623c61 |url=}}</ref>
|
* <small>Constitutional</small>
* <small>[[Anemia]] Related</small>
* <small>[[Bleeding]]</small>
* <small>[[Superior vena cava syndrome]]</small>
|
* <small>[[Lymphadenopathy]]</small>
* <small>[[Mediastinal mass]]</small>
* <small>[[Pleural effusions]]</small>
* <small>[[Trachea|Tracheal]] obstruction</small>
* <small>[[Pericardial effusions]]</small>
|<small>↑</small>
|<small>↑</small>
|±
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|<small>↑ or ↓</small>
|
* ↑ <small>[[LDH]]</small>
|<small>↓</small>
|<small>↓</small>
|
* <small>Hypercelluarity with increased [[T cells]] precursors</small>
|
* <small>[[Cytogenetic analysis]]</small>
* <small>[[FISH]]</small>
* <small>[[Flow cytometry]]</small>
|
* <small>Similar to [[T cell|T-cell]] lymphoblastic [[leukemia]] but is more aggressive clinically and cell are characterized by [[Flow cytometry|cytometry]] as [[CD1a]]<sup>−</sup>, [[CD8]]<sup>−</sup>, [[CD5]]<sup>−</sup> (dim), and positivity for 1 or more stem cell or [[myeloid]] [[antigens]].</small>  
* <small>[[Gene expression]] indicates more immature [[cells]] as compared to other subtypes of [[T cell|T-cell]] [[neoplasms]].</small>
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


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Latest revision as of 20:30, 27 February 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2] Zahir Ali Shaikh, MD[3] Mohamad Alkateb, MBBCh [4]; Shyam Patel [5]

Overview

Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions include:[1][2][3]

Differentiating Myeloproliferative Disorders

ABBREVIATIONS

N/A: Not available, NL: Normal, FISH: Fluorescence in situ hybridization, PCR: Polymerase chain reaction, LDH: Lactate dehydrogenase, PUD: Peptic ulcer disease, EPO: Erythropoietin, LFTs: Liver function tests, RFTs: Renal function tests, LAP: Leukocyte alkaline phosphatase, LAD: Leukocyte alkaline dehydrgenase, WBCs: White blood cells.

Myeloproliferative neoplasms (MPN) Clinical manifestations Diagnosis Other features
Symptoms Physical examination CBC & Peripheral smear Bone marrow biopsy Other investigations
WBCs Hb Plat-
elets
Leuko-cytes Blasts Left
shift
Baso-
phils
Eosino-
phils
Mono-
cytes
Others
Chronic myeloid leukemia
(CML), BCR-ABL1+[4][5]
<2% + N/A NL
Chronic neutrophilic leukemia (CNL)[6][7][8] Minimal + NL NL NL
Polycythemia vera
(PV)[9][10][11][12]
  • Constitutional
NL or ↑ None - ↑ or ↓ NL or ↑ NL ↑↑ NL
  • Hypercellularity for age with tri-lineage growth
Primary myelofibrosis (PMF)[13][14][15][16] Erythroblasts - Absent NL NL
  • Variable with fibrosis or hypercellularity
Essential thrombocythemia (ET)[17][18][19]

NL or ↑

None

-

↓ or absent

NL

NL

  • N/A

↑↑

  • Normal/Hypercellular
Chronic eosinophilic leukemia,
not otherwise specified
(NOS)[20][21][22][23]
Present + ↑↑
MPN,
unclassifiable
Variable ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • N/A
Mastocytosis[24][25][26][27]
  • Constitutional
None - NL NL ↓ or ↑
Myeloid/lymphoid neoplasms
with eosinophilia and rearrangement
of PDGFRA, PDGFRB, or FGFR1,
or with PCM1-JAK2[28][29][30][31]
NL - NL
  • None
NL
  • FISH shows t(8;13) and t(8;22)
B-lymphoblastic leukemia/lymphoma[32][33] NL or ↑ >25% N/A ↑ or ↓ ↑ or ↓ ↑ or ↓
Myelodysplastic syndromes
(MDS)[34][35]
Variable -
  • Leukemia transformation
  • Acquired pseudo-Pelger-Huët anomaly
Acute myeloid leukemia (AML)
and related neoplasms[36][37]
NL or ↑ N/A ↑ or ↓ ↑ or ↓ ↑ or ↓

with dysplasia

Blastic plasmacytoid
dendritic cell neoplasm
[38][39][40][41]
NL NL NL NL
Myelodysplastic
/myeloproliferative
neoplasms
(MDS/MPN)
Chronic myelomonocytic leukemia (CMML)[42]
[43][44]
< 20% NL ↑↑
  • Overlapping of both, MDS and MPN
  • Absolute monocytosis > 1 × 109/L (defining feature)
  • MD-CMML:WBC ≤ 13 × 109/L (FAB)
  •  MP-CMML:WBC > 13 × 109/L (FAB)
Atypical chronic myeloid leukemia (aCML), BCR-ABL1-[45][46] <20% + <2% of WBCs N/A N/A
  • N/A
Juvenile myelomonocytic leukemia (JMML)[47][48] N/A N/A N/A
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[49][50][51]
  • Variable
NL or ↑ NL - NL N/A N/A
T-lymphoblastic leukemia/
lymphoma
T-lymphoblastic leukemia/
lymphoma
[52][53][54]
>25% blasts (Leukemia)

<25% blasts (Lymphoma)

± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • LDH
  • Positive for TdT
  • Hypercelluarity with increased T cells precursors
Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph[55] ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • N/A
Provisional entity: Early T-cell precursor lymphoblastic leukemia[56][57] ± ↑ or ↓ ↑ or ↓ ↑ or ↓
  • Hypercelluarity with increased T cells precursors

References

  1. Tefferi A, Barbui T (2015). "Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management". Am J Hematol. 90 (2): 162–73. doi:10.1002/ajh.23895. PMID 25611051.
  2. Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
  3. Jabbour E, Kantarjian H (2014). "Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management". Am J Hematol. 89 (5): 547–56. doi:10.1002/ajh.23691. PMID 24729196.
  4. Savage DG, Szydlo RM, Goldman JM (January 1997). "Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period". Br. J. Haematol. 96 (1): 111–6. PMID 9012696.
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  6. Szuber N, Tefferi A (February 2018). "Chronic neutrophilic leukemia: new science and new diagnostic criteria". Blood Cancer J. 8 (2): 19. doi:10.1038/s41408-018-0049-8. PMC 5811432. PMID 29440636.
  7. Maxson JE, Tyner JW (February 2017). "Genomics of chronic neutrophilic leukemia". Blood. 129 (6): 715–722. doi:10.1182/blood-2016-10-695981. PMC 5301820. PMID 28028025.
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