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]
This category of AML(M7 subtype) is associated with 30% or more blasts in the marrow. Blasts are identified as being of megakaryocyte lineage by; expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy or by conducting tests that detect platelet-specific antibodies.[4] Transient leukemia (TL) occurs in approximately10% of Down syndrome infants, which is also attributed as transient myeloproliferative disorder.[5][6] In most cases, TL spontaneously resolves; however, during the first four year of life, it progresses to acute megakaryoblastic leukemia in 13% to 33% of patients.[7]
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.
- ↑ Zipursky, Alvin (2003). "Transient leukaemia - a benign form of leukaemia in newborn infants with trisomy 21". British Journal of Haematology. 120 (6): 930–938. doi:10.1046/j.1365-2141.2003.04229.x. ISSN 0007-1048.
- ↑ Pine, Sharon R.; Guo, Qianxu; Yin, Changhong; Jayabose, Somasundaram; Druschel, Charlotte M.; Sandoval, Claudio (2007). "Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome". Blood. 110 (6): 2128–2131. doi:10.1182/blood-2007-01-069542. ISSN 0006-4971.
- ↑ Klusmann, Jan-Henning; Creutzig, Ursula; Zimmermann, Martin; Dworzak, Michael; Jorch, Norbert; Langebrake, Claudia; Pekrun, Arnulf; Macakova-Reinhardt, Katarina; Reinhardt, Dirk (2008). "Treatment and prognostic impact of transient leukemia in neonates with Down syndrome". Blood. 111 (6): 2991–2998. doi:10.1182/blood-2007-10-118810. ISSN 0006-4971.