Acute megakaryoblastic leukemia pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
It is associated with GATA1, and risks are increased in individuals with Down syndrome.[1] However, not all cases are associated with Down syndrome,[2] and other genes can also be associated with AMKL.[3]
- According to the report of the French-American-British Cooperative Group, this category of AML (M7 subtype) is associated with 30% or more blasts in the bone marrow. Blasts are identified as being of megakaryocyte lineage by; expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy.[4]
- Myelofibrosis is usually associated with AMKL; however, the exact underlying pathophysiology is controversial. The investigators did not find any direct correlation between acute myelofibrosis and the fibroblasts obtained from the bone marrow of patients with AMKL. Nevertheless, it was proposed that some humoral factors may play a key role in developing bone marrow fibrosis.[5]
- Transforming Growth Factor-β (TG-β) was identified to be the significant contributor in AMKL associated myelofibrosis in addition to some other unknown factors due to the strong stimulatory effects on collagen.[6]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Bennett, John M. (1985). "Criteria for the Diagnosis of Acute Leukemia of Megakaryocyte Lineage (M7)". Annals of Internal Medicine. 103 (3): 460. doi:10.7326/0003-4819-103-3-460. ISSN 0003-4819.
- ↑ Clare, Nanette; Elson, David; Manhoff, Louis (1982). "Cytogenetic Studies of Peripheral Myeloblasts and Bone Marrow Fibroblasts in Acute Myelofibrosis". American Journal of Clinical Pathology. 77 (6): 762–766. doi:10.1093/ajcp/77.6.762. ISSN 0002-9173.
- ↑ Terui, T; Niitsu, Y; Mahara, K; Fujisaki, Y; Urushizaki, Y; Mogi, Y; Kohgo, Y; Watanabe, N; Ogura, M; Saito, H (1990). "The production of transforming growth factor-beta in acute megakaryoblastic leukemia and its possible implications in myelofibrosis". Blood. 75 (7): 1540–1548. doi:10.1182/blood.V75.7.1540.1540. ISSN 0006-4971.