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

Liam Donnelly; Casey Rankins; Ximena Jordan Bruno; Wendy McKinnon; Katherine Devitt; Juli-Anne Gardner

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

J Assoc Genet Technol. 2020;46(3):135-139.

Authors

Liam Donnelly¹, Casey Rankins¹, Ximena Jordan Bruno², Wendy McKinnon³, Katherine Devitt¹, Juli-Anne Gardner¹

Affiliations

¹ Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.
² Department of Hematology and Medical Oncology, University of Vermont Medical Center, Burlington, VT.
³ Department of Medicine Familial Cancer Program, University of Vermont Medical Center, Burlington, VT.

PMID: 32889804

Abstract

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.