Mast cell leukemia overview

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Mast cell leukemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Staging

History and Symptoms

Physical Examination

Laboratory Findings

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CT

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Treatment

Medical Therapy

Surgery

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Overview

Mast cell leukemia was first described in 1906 by G. Joachim.[1] Mast cell leukemia may be classified into two categories based on prognosis.[1] Based on the duration of symptoms, mast cell leukemia may be classified into either acute or chronic.[2] Genes involved in the pathogenesis of mast cell leukemia include KIT D816V, and non-KIT D816V.[1][3][4] There are no characteristic findings of mast cell leukemia on gross pathology.[5] On microscopic histopathological analysis, multifocal sheets, and clusters of mast cells in bone marrow sections are findings of mast cell leukemia.[6] Common causes of mast cell leukemia include genetic mutations. Common genetic mutations involved in the development of mast cell leukemia can be found here.[1][3][4] Mast cell leukemia must be differentiated from other diseases such as systemic mastocytosis, myelomastocytic leukemia, hairy cell leukemia, reactive mast cell hyperplasia, and peripheral T-cell leukemia.[6][5] The incidence of mast cell leukemia increases with age; the median age at diagnosis is 52 years.[1] Mast cell leukemia commonly affects individuals between 5 to 76 years of age.[1] Females are more commonly affected with mast cell leukemia than males. The female to male ratio is 1.50.[1] Mast cell leukemia usually affects individuals of the white race.[1] The risk factor for malignant transformation of systemic mastocytosis to mast cell leukemia is advanced age, history of weight loss, anemia, thrombocytopenia, hypoalbuminemia, and an excess of bone marrow blasts.[1] According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for mast cell leukemia.[7] If left untreated, patients with mast cell leukemia may progress to develop weight loss, ascites, and bone abnormalities.[3] Common complications of mast cell leukemia include hepatosplenomegaly, lymphadenopathy, and osteoporosis.[3] Prognosis is generally poor, and the median survival time is less than six months.[1] Symptoms of mast cell leukemia include fever, weight loss, weakness, flushes, and pruritis.[3] Common physical examination findings of mast cell leukemia include hepatosplenomegaly, lymphadenopathy, bone abnormalities, and ascites.[1][3] Laboratory findings consistent with the diagnosis of mast cell leukemia include abnormal complete blood count, immunohistochemistry, and flow cytometry.[1][3][8] The mainstay of therapy for symptomatic mast cell leukemia patients is immunochemotherapy.[1][3]

Historical Perspective

Mast cell leukemia was first described in 1906 by G. Joachim.[1]

Classification

Mast cell leukemia may be classified into two categories based on prognosis.[1] Based on the duration of symptoms, mast cell leukemia may be classified into either acute or chronic.[2]

Pathophysiology

Genes involved in the pathogenesis of mast cell leukemia include KIT D816V, and non-KIT D816V.[1][3][4] There are no characteristic findings of mast cell leukemia on gross pathology.[5] On microscopic histopathological analysis, multifocal sheets, and clusters of mast cells in bone marrow sections are findings of mast cell leukemia.[6]

Causes

Common causes of mast cell leukemia include genetic mutations. Common genetic mutations involved in the development of mast cell leukemia can be found here.[1][3][4]

Differentiating Mast cell leukemia from other Diseases

Mast cell leukemia must be differentiated from other diseases such as systemic mastocytosis, myelomastocytic leukemia, hairy cell leukemia, reactive mast cell hyperplasia, and peripheral T-cell leukemia.[6][5]

Epidemiology and Demographics

The incidence of mast cell leukemia increases with age; the median age at diagnosis is 52 years.[1] Mast cell leukemia commonly affects individuals between 5 to 76 years of age.[1] Females are more commonly affected with mast cell leukemia than males. The female to male ratio is 1.50.[1] Mast cell leukemia usually affects individuals of the white race.[1]

Risk Factors

The risk factor for malignant transformation of systemic mastocytosis to mast cell leukemia is advanced age, history of weight loss, anemia, thrombocytopenia, hypoalbuminemia, and an excess of bone marrow blasts.[1]

Screening

According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for mast cell leukemia.[7]

Natural History, Complications and Prognosis

If left untreated, patients with mast cell leukemia may progress to develop weight loss, ascites, and bone abnormalities.[3] Common complications of mast cell leukemia include hepatosplenomegaly, lymphadenopathy, and osteoporosis.[3] Prognosis is generally poor, and the median survival time is less than six months.[1]

Diagnosis

History and symptoms

Symptoms of mast cell leukemia include fever, weight loss, weakness, flushes, and pruritis.[3]

Physical Examination

Common physical examination findings of mast cell leukemia include hepatosplenomegaly, lymphadenopathy, bone abnormalities, and ascites.[1][3]

Laboratory Findings

Laboratory findings consistent with the diagnosis of mast cell leukemia include abnormal complete blood count, immunohistochemistry, and flow cytometry.[1][3][8]

CT

CT scan may be helpful in the diagnosis of mast cell leukemia. Findings on CT scan of the abdomen suggestive of mast cell leukemia include ascites, hepatosplenomegaly, and upper abdominal lymphadenopathy.[9]

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical therapy

The mainstay of therapy for symptomatic mast cell leukemia patients is immunochemotherapy.[1][3]

Surgery

The predominant therapy for mast cell leukemia is immunochemotherapy. Surgical management, such as splenectomy, or bone marrow transplantation may be required in certain cases.[1]

Prevention

There are no primary or secondary preventive measures available for mast cell leukemia.

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 1.22 1.23 1.24 1.25 1.26 Georgin-Lavialle, S.; Lhermitte, L.; Dubreuil, P.; Chandesris, M.-O.; Hermine, O.; Damaj, G. (2012). "Mast cell leukemia". Blood. 121 (8): 1285–1295. doi:10.1182/blood-2012-07-442400. ISSN 0006-4971.
  2. 2.0 2.1 Savini, P.; Rondoni, M.; Poletti, G.; Lanzi, A.; Quercia, O.; Soverini, S.; De Benedittis, C.; Musardo, G.; Martinelli, G.; Stefanini, G. F. (2015). "Serum Total Tryptase Level Confirms Itself as a More Reliable Marker of Mast Cells Burden in Mast Cell Leukaemia (Aleukaemic Variant)". Case Reports in Hematology. 2015: 1–4. doi:10.1155/2015/737302. ISSN 2090-6560.
  3. 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 3.13 3.14 3.15 Joris, Magalie; Georgin-Lavialle, Sophie; Chandesris, Marie-Olivia; Lhermitte, Ludovic; Claisse, Jean-François; Canioni, Danielle; Hanssens, Katia; Damaj, Gandhi; Hermine, Olivier; Hamidou, Mohammed (2012). "Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive". Case Reports in Hematology. 2012: 1–6. doi:10.1155/2012/517546. ISSN 2090-6560.
  4. 4.0 4.1 4.2 4.3 Kristensen, Thomas; Vestergaard, Hanne; Møller, Michael Boe (2011). "Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay". The Journal of Molecular Diagnostics. 13 (2): 180–188. doi:10.1016/j.jmoldx.2010.10.004. ISSN 1525-1578.
  5. 5.0 5.1 5.2 5.3 Horvai AE, Link TM. Bone and Soft Tissue Pathology. Elsevier Health Sciences (2012). http://books.google.com?id=p2DV6VWdXx8C. Accessed on November 30, 2015.
  6. 6.0 6.1 6.2 6.3 Valent, P.; Sotlar, K.; Sperr, W. R.; Escribano, L.; Yavuz, S.; Reiter, A.; George, T. I.; Kluin-Nelemans, H. C.; Hermine, O.; Butterfield, J. H.; Hagglund, H.; Ustun, C.; Hornick, J. L.; Triggiani, M.; Radia, D.; Akin, C.; Hartmann, K.; Gotlib, J.; Schwartz, L. B.; Verstovsek, S.; Orfao, A.; Metcalfe, D. D.; Arock, M.; Horny, H.- P. (2014). "Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal". Annals of Oncology. 25 (9): 1691–1700. doi:10.1093/annonc/mdu047. ISSN 0923-7534.
  7. 7.0 7.1 Mast cell leukemia. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=mast+cell+leukemia
  8. 8.0 8.1 Biochemistry of mast cell leukemia. Wikipedia (2015). https://en.wikipedia.org/wiki/Mast_cell_leukemia. Accessed on December 1, 2015
  9. Systemic mastocytosis. Dr Alexandra Stanislavsky. Radiopaedia (2015). http://radiopaedia.org/cases/systemic-mastocytosis. Accessed on December 1, 2015

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