Acute megakaryoblastic leukemia pathophysiology: Difference between revisions
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== | ==Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
It is associated with [[GATA1]], and risks are increased in individuals with [[Down syndrome]].<ref name="pmid12586620">{{cite journal |author=Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A |title=GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome |journal=Blood |volume=101 |issue=11 |pages=4301–4 |year=2003 |pmid=12586620 |doi=10.1182/blood-2003-01-0013 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12586620}}</ref> However, not all cases are associated with Down syndrome,<ref name="pmid18275433">{{cite journal |author=Hama A, Yagasaki H, Takahashi Y, ''et al'' |title=Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome |journal=Br. J. Haematol. |volume=140 |issue=5 |pages=552–61 |year=2008 |pmid=18275433 |doi=10.1111/j.1365-2141.2007.06971.x |url=http://dx.doi.org/10.1111/j.1365-2141.2007.06971.x}}</ref> and other genes can also be associated with AMKL.<ref name="pmid17360941">{{cite journal |author=Gu TL, Mercher T, Tyner JW, ''et al'' |title=A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia |journal=Blood |volume=110 |issue=1 |pages=323–33 |year=2007 |pmid=17360941 |doi=10.1182/blood-2006-10-052282 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=17360941}}</ref> | It is associated with [[GATA1]], and risks are increased in individuals with [[Down syndrome]].<ref name="pmid12586620">{{cite journal |author=Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A |title=GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome |journal=Blood |volume=101 |issue=11 |pages=4301–4 |year=2003 |pmid=12586620 |doi=10.1182/blood-2003-01-0013 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12586620}}</ref> However, not all cases are associated with Down syndrome,<ref name="pmid18275433">{{cite journal |author=Hama A, Yagasaki H, Takahashi Y, ''et al'' |title=Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome |journal=Br. J. Haematol. |volume=140 |issue=5 |pages=552–61 |year=2008 |pmid=18275433 |doi=10.1111/j.1365-2141.2007.06971.x |url=http://dx.doi.org/10.1111/j.1365-2141.2007.06971.x}}</ref> and other genes can also be associated with AMKL.<ref name="pmid17360941">{{cite journal |author=Gu TL, Mercher T, Tyner JW, ''et al'' |title=A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia |journal=Blood |volume=110 |issue=1 |pages=323–33 |year=2007 |pmid=17360941 |doi=10.1182/blood-2006-10-052282 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=17360941}}</ref> | ||
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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 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.
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.