Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3)/ KAT6A-CREBBP in a Patient with an NF1 Germline Mutation and Clinical Presentation Mimicking Acute Promyelocytic Leukemia.

Abstract

OBJECTIVES:

Acute myeloid leukemia (AML) with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP is an uncommon subtype of AML accounting for less than 0.5% of AML cases. AML with t(8;16)/KAT6A-CREBBP has characteristic clinical and pathologic features including disseminated intravascular coagulation (DIC), leukemia cutis, hemophagocytosis, monocytic or myelomonocytic differentiation, is frequently associated with therapy-related AML and has a poor prognosis. We present a classic case of AML with t(8;16)/KAT6A-CREBBP occurring in a patient with both a germline NF1 mutation and recent cytotoxic therapy for embryonal rhabdomyosarcoma.

• Authors: Liam Donnelly, Casey Rankins, Ximena Jordan Bruno, Wendy McKinnon, Katherine Devitt, Juli-Anne Gardner
• Journal: Journal of the Association of Genetic Technologists (J Assoc Genet Technol) Vol. 46 Issue 3 Pg. 135-139 ( 2020) ISSN: 1523-7834 [Print] United States
• PMID: 32889804 (Publication Type: Journal Article)
• Copyright: Copyright© by the Association of Genetic Technologists.