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De novo monocytic-M5b AML with t(8;16) (p11.2; p13.3) KAT6A/CREBBP fusion and FLT3-TKD mutation complicated by chemotherapy-induced Takotsubo cardiomyopathy.

Anil A KumarTaras BenzarNazar HafizHugo Akabane
Published in: BMJ case reports (2023)
Acute myeloid leukemia (AML) with t(8;16) is a rare cytogenetic abnormality that presents unique characteristics such as hemophagocytosis, disseminated intravascular coagulation, leukemia cutis and varying levels of CD45 expression. It is more common in women and usually associated with prior cytotoxic therapies, accounting for <0.5% of all AML cases. We present a case of de novo t(8;16) AML with FLT3-TKD mutation who relapsed after initial induction and consolidation. Mitelman database analysis reveals only 175 cases with this translocation, majority of which are M5 (54.3%) and M4 (21.1%) AML. Our review reveals very poor prognosis with overall survival ranging from 4.7 to 18.2 months. She also developed Takotsubo cardiomyopathy after receiving 7+3 induction regimen. Our patient died in 6 months from the date of diagnosis. Although a rare occurrence, it has been discussed in literature to identify t(8;16) as a separate subtype of AML due to unique characteristics.
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