Sandbox:Hannan
Myeloproliferative neoplasms (MPN) | Clinical manifestations | Diagnosis | Other features | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical examination | CBC & Peripheral smear | Bone marrow biopsy | Gold standard | Other investigations | ||||||||||
WBCs | RBCs | Platelets | |||||||||||||
Leukocytosis | Blasts | Left shift | Basophilia | Eosinophilia | Monocytosis | Others | |||||||||
Chronic myeloid leukemia |
|
|
Absolute leukocytosis (median of 100,000/µL) | Usually <2% but may present with blast crisis | Left shift with classic myelocyte bulge (myelocytes > metamyelocytes on the blood smear)
|
Absolute basophilia is almost always present | Absolute eosinophilia in 90% of patients | Often present | Anemia | Platelet count is usually normal or elevated but thrombocytopenia indicates advanced stage or an alternative diagnosis |
|
Marrow aspirate & unilateral biopsy with cytogenetics and flow cytometry |
|
Granulocytic dysplasia is minimal/absent | |
Chronic neutrophilic leukemia (CNL)[3][4][5] |
|
|
Leukocytosis with chronic neutrophilia | Minimal to none | Significantly less than that of CML | Absent | Absent | Absent | ↑ Lactate dehydrogenase (LDH)
↑ Vitamin B12 levels |
Anemia | Thrombocytopenia | Uniforme and intense hypercellularity with minimal to none fibrosis
Neutrophil toxic granulations and Dohle bodies |
FISH
Imaging for hepatosplenomegaly |
Associationed with polycythemia vera and plasma cell disorders | |
Polycythemia vera (PV)[6][7][8][9] |
|
|
Normal to mild | None | None | May be present | May be present | Usually absent | ↓ Serum ferritin ↓ Folate levels
↑↑B12 levels |
↑↑ Hb and Hct levels (> 16 and 48%) | None to moderate | Hypercellularity for age with tri-lineage growth
Myelofibrosis (in up to 20% of patients) |
JAK2 mutation studies are diagnostic in 95% of patients | Radioisotope studies
Serum EPO levels LFTs RFTs Imaging studies |
May transform into myelofibrosis or leukemia |
Primary myelofibrosis (PMF)[10][11][12][13] |
|
|
Variable with leukocytosis or leukopenia | Erythroblasts may be seen | None | Abset | Absent | Absent | ↑ LAP
↑ LAD ↑ uric acid ↑ vitamin B12 |
Normochromic normocytic anemia | Thrombocytopenia | Variable with fibrosis or hypercellularity | JAK2 mutation
CALR mutation MPL mutation |
Bone marrow aspiration shows a dry tap | |
Essential thrombocythemia (ET)[14][15][16] |
|
|
None/may be |
None |
None |
decreased or absent basophils |
None |
None |
None |
Normocytic, normochrmoic |
Marked thrombocytosis |
Normal/Hypercellular |
JAK2 mutation CALR mutation MPL mutation |
Thrombosis Hemorrhage Pregnancy loss | |
Chronic eosinophilic leukemia, not otherwise specified (NOS)[17][18][19][20] |
|
|
Leukocytosis | Present | Present | Mild basophilia | Severe eosinophilia | Mildly increased
monocytes |
↑ B12 levels
↑ LDH |
Anemia | Thrombocytopenia | Hypercelluar with ↑ eosinophilic precursors, ↑ eosinophils, and atypical mononuclear cells | Biopsy combined with peripheral eosinophilia and absence of Philadelphia chromosome | FISH
Cytogenetic analysis of purified eosinophils and X-chromosome inactivation analysis |
|
MPN, unclassifiable | Similar to other myeloproliferative neoplasms | Similar to other myeloproliferative neoplasms | Leukocytosis | Variable | Variable | Variable | Variable | Variable | May resemble other myeloproliferative neoplasms | Variable | Thrombocytosis in most cases | ↑ megakaryocyte proliferation with variable hypercellularity in granulocytic or erythrocytic cell lines | None | Similar to other myeloprolifeartive neoplasms but do not fulfil the criteria to be classified to a specific type | |
Mastocytosis[21][22][23][24] |
|
|
Leukocytosis | None | None | Eosinophilia | ↑ Alkaline phosphatase
↑ LDH |
Anemia | Thrombocytopenia or thrombocytosis | Multifocal dense infiltrates of mast cells with atypical morphology in >25 % | Bone marrow or lesional (Cutaneous mastocytosis) biopsyand histopathological studies | Cytogenetic analysis for c-KIT receptor mutations
Serum tryptase levels 24-hour urine test for N-methyl histamine and 11-beta-prostaglandine |
|
Myeloproliferative neoplasms (MPN) | Clinical manifestations | Diagnosis | Other features | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical examination | CBC & Peripheral smear | Bone marrow biopsy | Gold standard | Other investigations | |||||||||||
WBCs | RBCs | Platelets | ||||||||||||||
Leukocytosis | Blasts | Left shift | Basophilia | Eosinophilia | Monocytosis | Others | ||||||||||
Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of
PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
|
|
May present or evolve into acute myeloid or lymphoblastic leukemia | ||||||||||||||
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) | Chronic myelomonocytic leukemia (CMML)[25] |
|
|
MD-CMML: WBC ≤ 13 × 109/L
MP-CMML: WBC > 13 × 109/L (FAB) |
< 20% blasts | Eosinophilia | Absolute monocytosis > 1 × 109/L (defining feature) | ↑ LDH | Anemia | Thrombocytopenia | Myelodysplastic and myeloproliferative feature | Exclusion of distinctive rearrangements and translocation i.e; Ph chromosome and presence of monocytosis | Cytogenetic analysis
Flow cytometry |
Overlapping of both, MDS and MPN | ||
Atypical chronic myeloid leukemia (aCML), BCR-ABL1-[28][29] | Similar to chronic myeloid leukemia | Similar to chronic myeloid leukemia | WBC > 13 × 109/L | <20% myeloblats | Present | <2% of leukocytes | Anemia | Thrombocytopenia | Granulocytic hyperplasia with prominent dysplasia | Cytogenetic analysis
Flow cytometry |
Granulocytic dysplasia is prominent
Absence of BCR-ABL or PDGFRA, PDGFRB, or FGFR1 rearrangements | |||||
Juvenile myelomonocytic leukemia (JMML)[30][31] |
|
|
Leukocytosis | Present | Monocytosis | ↓Serum Iron
↑vitamin B12 |
Anemia | Thrombocytopenia | Hypercelluar with ↑ myeloid cells in stages of maturation | Cytogenetic analysis
Flow cytometry |
Polyclonal hypergammaglobulinemia | |||||
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[32][33][34] |
|
Variable | Variable | None or minimal | None | None or minimal absolute basophilia | ↑Serum Iron | Anemia | Thrombocytosis | Hypercellularity with dyserythropoiesis and increased megakaryocytes | Cytogenetic analysis
Flow cytometry |
Large atypical megakaryocytes
Ringed sideroblasts SF3B1 mutation | ||||
MDS/MPN, unclassifiable | ||||||||||||||||
Myelodysplastic syndromes (MDS)[35][36] |
|
|
Leukopenia | None | None | Decreased | Decreased | Decreased |
|
Anemia | Thrombocytosis | Hypercellular
/ normocellular bone marrow with dysplastic changes |
Cytogenetic analysis
Flow cytometry |
Leukemia transformation | ||
Acute myeloid leukemia (AML) and related neoplasms
|
||||||||||||||||
Blastic plasmacytoid dendritic cell neoplasm | ||||||||||||||||
B-lymphoblastic leukemia/lymphoma[37][38] |
|
|
Variable | >25% blasts | Variable | Variable | Variable | Auer bodies | Anemia | Thrombocytopenia | Hypercellular with blast infilteration
with or without myelodysplasia |
Bone marrow aspiration and biopsy | Cytogenetic analysis
Flow cytometry FISH |
May present as extramedullary disease (Myeloid sarcoma) | ||
T-lymphoblastic leukemia/lymphoma
|
T-lymphoblastic leukemia/lymphoma[39][40][41] |
|
|
Variable,
often leukocytosis |
>25% blasts (Leukemia)
<25% blasts (Lymphoma) |
Variable | Variable | Variable | Variable | ↑ LDH
Positivite for TdT |
Variable | Variable | Bone marrow and tissue aspiration and biopsy | Cytogenetic analysis
Flow cytometry FISH |
May involve brain, skin, and testes. | |
Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph | ||||||||||||||||
Provisional entity: Early T-cell precursor lymphoblastic leukemia[42][43] | Similar to T-cell precursor lymphoblastic leukemia but is more aggressive clinically and cell are characterized by cytometry as CD1a−, CD8−, CD5− (dim), and positivity for 1 or more stem cell or myeloid antigens. Gene expression indicates more immature cells as compared to other subtypes of T-cell neoplasms. |
- 50% of patients are asymptomatic
- Clinical features are generally nonspecific such as left upper quadrant pain, early satiety, fatigue & lethargy (most common presenting symptom), weight loss, and night sweats.
- symptoms of anemia
- bleeding
- priapism
- bone pain
- Abdominal mass or fullness
- Infection
- Headache
- Dyspnoea
- Visual disturbances
- Weakness
- Arthralgia
- Cough
- Malaise
- Dizziness
- Nausea/vomiting
- Ankle oedema
- Mental change
References
- ↑ 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.
- ↑ Thompson PA, Kantarjian HM, Cortes JE (October 2015). "Diagnosis and Treatment of Chronic Myeloid Leukemia in 2015". Mayo Clin. Proc. 90 (10): 1440–54. doi:10.1016/j.mayocp.2015.08.010. PMC 5656269. PMID 26434969.
- ↑ 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.
- ↑ 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.
- ↑ Menezes J, Cigudosa JC (2015). "Chronic neutrophilic leukemia: a clinical perspective". Onco Targets Ther. 8: 2383–90. doi:10.2147/OTT.S49688. PMC 4562747. PMID 26366092.
- ↑ Vannucchi AM, Guglielmelli P, Tefferi A (March 2018). "Polycythemia vera and essential thrombocythemia: algorithmic approach". Curr. Opin. Hematol. 25 (2): 112–119. doi:10.1097/MOH.0000000000000402. PMID 29194068.
- ↑ Pillai AA, Babiker HM. PMID 30252337. Missing or empty
|title=
(help) - ↑ Tefferi A, Barbui T (January 2019). "Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management". Am. J. Hematol. 94 (1): 133–143. doi:10.1002/ajh.25303. PMID 30281843.
- ↑ Rumi E, Cazzola M (February 2017). "Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms". Blood. 129 (6): 680–692. doi:10.1182/blood-2016-10-695957. PMC 5335805. PMID 28028026.
- ↑ Cervantes F, Correa JG, Hernandez-Boluda JC (May 2016). "Alleviating anemia and thrombocytopenia in myelofibrosis patients". Expert Rev Hematol. 9 (5): 489–96. doi:10.1586/17474086.2016.1154452. PMID 26891375.
- ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
- ↑ Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W (March 2007). "Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)". Pathol. Biol. 55 (2): 92–104. doi:10.1016/j.patbio.2006.06.002. PMID 16919893.
- ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
- ↑ Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID http://dx.doi.org/10.1182/blood-2007-04-083501 Check
|pmid=
value (help). - ↑ Daniel A. Arber, Attilio Orazi, Robert Hasserjian, Jurgen Thiele, Michael J. Borowitz, Michelle M. Le Beau, Clara D. Bloomfield, Mario Cazzola & James W. Vardiman (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–2405. doi:10.1182/blood-2016-03-643544. PMID 27069254. Unknown parameter
|month=
ignored (help) - ↑ A. Tefferi, R. Fonseca, D. L. Pereira & H. C. Hoagland (2001). "A long-term retrospective study of young women with essential thrombocythemia". Mayo Clinic proceedings. 76 (1): 22–28. doi:10.4065/76.1.22. PMID 11155408. Unknown parameter
|month=
ignored (help) - ↑ Vidyadharan S, Joseph B, Nair SP (2016). "Chronic Eosinophilic Leukemia Presenting Predominantly with Cutaneous Manifestations". Indian J Dermatol. 61 (4): 437–9. doi:10.4103/0019-5154.185716. PMC 4966405. PMID 27512192.
- ↑ Hofmans M, Delie A, Vandepoele K, Van Roy N, Van der Meulen J, Philippé J, Moors I (2018). "A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia". Leuk Res Rep. 9: 45–47. doi:10.1016/j.lrr.2018.04.001. PMC 5993353. PMID 29892549.
- ↑ Yamada Y, Rothenberg ME, Cancelas JA (2006). "Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia". Transl Oncogenomics. 1: 53–63. PMC 3642145. PMID 23662039.
- ↑ Kim TH, Gu HJ, Lee WI, Lee J, Yoon HJ, Park TS (September 2016). "Chronic eosinophilic leukemia with FIP1L1-PDGFRA rearrangement". Blood Res. 51 (3): 204–206. doi:10.5045/br.2016.51.3.204. PMID 27722133.
- ↑ Carter MC, Metcalfe DD, Komarow HD (February 2014). "Mastocytosis". Immunol Allergy Clin North Am. 34 (1): 181–96. doi:10.1016/j.iac.2013.09.001. PMC 3863935. PMID 24262698.
- ↑ Macri A, Cook C. PMID 29494109. Missing or empty
|title=
(help) - ↑ Lladó AC, Mihon CE, Silva M, Galzerano A (2014). "Systemic mastocytosis - a diagnostic challenge". Rev Bras Hematol Hemoter. 36 (3): 226–9. doi:10.1016/j.bjhh.2014.03.003. PMC 4109736. PMID 25031064.
- ↑ Valent P, Akin C, Metcalfe DD (March 2017). "Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts". Blood. 129 (11): 1420–1427. doi:10.1182/blood-2016-09-731893. PMC 5356454. PMID 28031180.
- ↑ Patnaik MM, Tefferi A (June 2016). "Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management". Am. J. Hematol. 91 (6): 631–42. doi:10.1002/ajh.24396. PMID 27185207.
- ↑ Parikh SA, Tefferi A (June 2012). "Chronic myelomonocytic leukemia: 2012 update on diagnosis, risk stratification, and management". Am. J. Hematol. 87 (6): 610–9. doi:10.1002/ajh.23203. PMID 22615103.
- ↑ Benton CB, Nazha A, Pemmaraju N, Garcia-Manero G (August 2015). "Chronic myelomonocytic leukemia: Forefront of the field in 2015". Crit. Rev. Oncol. Hematol. 95 (2): 222–42. doi:10.1016/j.critrevonc.2015.03.002. PMC 4859155. PMID 25869097.
- ↑ Dao KH, Tyner JW (2015). "What's different about atypical CML and chronic neutrophilic leukemia?". Hematology Am Soc Hematol Educ Program. 2015: 264–71. doi:10.1182/asheducation-2015.1.264. PMC 5266507. PMID 26637732.
- ↑ Muramatsu H, Makishima H, Maciejewski JP (February 2012). "Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions". Semin. Oncol. 39 (1): 67–73. doi:10.1053/j.seminoncol.2011.11.004. PMC 3523950. PMID 22289493.
- ↑ Aricò M, Biondi A, Pui CH (July 1997). "Juvenile myelomonocytic leukemia". Blood. 90 (2): 479–88. PMID 9226148.
- ↑ Hasle H (March 1994). "Myelodysplastic syndromes in childhood--classification, epidemiology, and treatment". Leuk. Lymphoma. 13 (1–2): 11–26. doi:10.3109/10428199409051647. PMID 8025513.
- ↑ Patnaik MM, Tefferi A (March 2017). "Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management". Am. J. Hematol. 92 (3): 297–310. doi:10.1002/ajh.24637. PMID 28188970.
- ↑ Alshaban A, Padilla O, Philipovskiy A, Corral J, McAlice M, Gaur S (2018). "Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome". Leuk Res Rep. 10: 37–40. doi:10.1016/j.lrr.2018.08.001. PMID 30186759.
- ↑ Bouchla A, Papageorgiou SG, Tsakiraki Z, Glezou E, Pavlidis G, Stavroulaki G, Bazani E, Foukas P, Pappa V (2018). "Plasmablastic Lymphoma in an Immunocompetent Patient with MDS/MPN with Ring Sideroblasts and Thrombocytosis-A Case Report". Case Rep Hematol. 2018: 2525070. doi:10.1155/2018/2525070. PMC 6247723. PMID 30524760.
- ↑ Germing U, Kobbe G, Haas R, Gattermann N (November 2013). "Myelodysplastic syndromes: diagnosis, prognosis, and treatment". Dtsch Arztebl Int. 110 (46): 783–90. doi:10.3238/arztebl.2013.0783. PMC 3855821. PMID 24300826.
- ↑ Gangat N, Patnaik MM, Tefferi A (January 2016). "Myelodysplastic syndromes: Contemporary review and how we treat". Am. J. Hematol. 91 (1): 76–89. doi:10.1002/ajh.24253. PMID 26769228.
- ↑ Kamiya-Matsuoka C, Garciarena P, Amin HM, Tremont-Lukats IW, de Groot JF (December 2013). "B lymphoblastic leukemia/lymphoma presenting as seventh cranial nerve palsy". Neurol Clin Pract. 3 (6): 532–534. doi:10.1212/CPJ.0b013e3182a78ef0. PMC 6082360. PMID 30107017.
- ↑ Zhang X, Rastogi P, Shah B, Zhang L (September 2017). "B lymphoblastic leukemia/lymphoma: new insights into genetics, molecular aberrations, subclassification and targeted therapy". Oncotarget. 8 (39): 66728–66741. doi:10.18632/oncotarget.19271. PMC 5630450. PMID 29029550.
- ↑ You MJ, Medeiros LJ, Hsi ED (September 2015). "T-lymphoblastic leukemia/lymphoma". Am. J. Clin. Pathol. 144 (3): 411–22. doi:10.1309/AJCPMF03LVSBLHPJ. PMID 26276771.
- ↑ Patel KJ, Latif SU, de Calaca WM (March 2009). "An unusual presentation of precursor T cell lymphoblastic leukemia/lymphoma with cholestatic jaundice: case report". J Hematol Oncol. 2: 12. doi:10.1186/1756-8722-2-12. PMC 2663564. PMID 19284608.
- ↑ Elreda L, Sandhu M, Sun X, Bekele W, Cohen AJ, Shah M (2014). "T-cell lymphoblastic leukemia/lymphoma: relapse 16 years after first remission". Case Rep Hematol. 2014: 359158. doi:10.1155/2014/359158. PMC 4005062. PMID 24822133.
- ↑ 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 (April 2016). "Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) in adolescents and adults: a high-risk subtype". Blood. 127 (15): 1863–9. doi:10.1182/blood-2015-08-661702. PMC 4915808. PMID 26747249.
- ↑ Haydu JE, Ferrando AA (July 2013). "Early T-cell precursor acute lymphoblastic leukaemia". Curr. Opin. Hematol. 20 (4): 369–73. doi:10.1097/MOH.0b013e3283623c61. PMC 3886681. PMID 23695450.