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Unique morphologic and genetic characteristics of acute myeloid leukemia with chromothripsis: a clinicopathologic study from a single institution

Human Pathology Mar 18, 2020

Gao J, Chen YH, Mina A, et al. - Researchers distinguished chromothripsis in 11 cases of myeloid neoplasms (9 acute myeloid leukemia [AML] and 2 myelodysplastic syndrome [MDS] cases) and recorded that all chromothripsis-positive AML cases were AML with myelodysplasia-related changes (AML-MRC). A comparative clinicopathologic and genetic characterization of AML-MRC cases with and without chromothripsis were conducted. The outcomes indicated that AML-MRC with chromothripsis is correlated with lower white blood cell and platelet counts and higher degree of karyotypic complexity. The data indicated that comparative morphologic evaluation of blast morphology showed unique features characteristic of AML-MRC with chromothripsis: a variable degree of cytoplasmic vacuolization, granulation, and blebbing. In the context of AML-MRC, these morphologic markers may prompt further research to identify cases with chromothripsis.

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