Systemic mastocytosis (SM) is a disorder characterized by abnormal proliferation of mast cells with KIT mutations, especially in codon 816. The prognosis of patients developing acute myeloid leukemia (AML) from SM is extremely poor, and hematopoietic cell transplantation is recommended. Herein, we describe a case of an 8-year-old female diagnosed with SM developing AML. A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. The patient has remained in complete remission for 39 months after completion of chemotherapy. SM developing AML without a KIT D816 mutation may be not necessarily associated with a poor prognosis.
*Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki
†Department of Laboratory Medicine, Tokai University School of Medicine, Kanagawa, Japan
The authors declare no conflict of interest.
Reprints: Hiroshi Moritake, MD, PhD, Division of Pediatrics, Faculty of Medicine, University of Miyazaki, 5200, Kihara, Kiyotake, Miyazaki 889-1692, Japan (e-mail: firstname.lastname@example.org).
Received February 27, 2018
Accepted June 16, 2018