Acute megakaryoblastic leukemia

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Acute megakaryoblastic leukemia
ICD-O: Template:ICDO
MeSH D007947

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic.[1]

It is classified under M7 in the French-American-British classification.[2]

In the first three years of life megakaryoblastic leukemia is the most common type of leukemia in patients with Downs syndrome.[3]

Pathophysiology

It is associated with GATA1, and risks are increased in individuals with Down syndrome.[4] However, not all cases are associated with Down syndrome,[5] and other genes can also be associated with AMKL.[6]

This category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by; Expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy.

Diagnosis

  • In adults, the features include
    • Pancytopenia with low blast counts in the blood
    • Myelofibrosis
    • An absence of lymphadenopathy and hepatosplenomegaly
    • Poor response to chemotherapy,and short clinical course.
  • In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7. Complete remission and long term survival are more common in children than adults.
  • In blood and bone marrow smears megakaryoblasts are usually medium sized to large cells with a high nuclear- cytoplasmic ratio. Nuclear chromatin is dense and homogeneous. There is scanty, variable basophilic cytoplasm which may be vacuolated. An irregular cytoplasmic border is often noted in some of the megakaryoblasts and occasionally projections resembling budding atypical platelets are present. Megakaryoblasts lack myeloperoxidase activity and stain negatively with sudan black B.
  • They are alpha naphthyl butyrate esterase negative and manifest variable alpha naphythyl acetate esterase activity usually in scattered clumps or granules in the cytoplasm. PAS staining also varies from negative to focal or granular positivity, to strongly positive staining.
  • A marrow aspirate is difficult to obtain in many cases because of variable degree of myelofibrosis.

References

  1. "Final Diagnosis -- Case 439". Retrieved 2008-03-08.
  2. "Acute Myeloid Leukemia - Signs and Symptoms".
  3. Hitzler JK. (2007) Acute megakaryoblastic leukemia in Down syndrome. Pediatr Blood Cancer. Dec;49(7 Suppl):1066-9. PMID: 17943965.
  4. Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A (2003). "GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome". Blood. 101 (11): 4301–4. doi:10.1182/blood-2003-01-0013. PMID 12586620.
  5. Hama A, Yagasaki H, Takahashi Y; et al. (2008). "Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome". Br. J. Haematol. 140 (5): 552–61. doi:10.1111/j.1365-2141.2007.06971.x. PMID 18275433.
  6. Gu TL, Mercher T, Tyner JW; et al. (2007). "A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia". Blood. 110 (1): 323–33. doi:10.1182/blood-2006-10-052282. PMID 17360941.
  7. Lei Q, Liu Y, Tang SQ (2007). "[Childhood acute megakaryoblastic leukemia]". Zhongguo Shi Yan Xue Ye Xue Za Zhi (in Chinese). 15 (3): 528–32. PMID 17605859.
  8. Vardiman JW, Harris NL, Brunning RD (2002). "The World Health Organization (WHO) classification of the myeloid neoplasms". Blood. 100 (7): 2292–302. doi:10.1182/blood-2002-04-1199. PMID 12239137.

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