Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation

Maki Hirao; Kentaro Watanabe; Yuiko Tsukada; Hisako Kunieda; Makoto Osada; Kohei Yamazaki; Ryunosuke Denda; Shinichiro Okamoto; Takahide Kikuchi

doi:10.1016/j.lrr.2022.100311

Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation

Leuk Res Rep. 2022 Apr 12:17:100311. doi: 10.1016/j.lrr.2022.100311. eCollection 2022.

Authors

Maki Hirao¹, Kentaro Watanabe¹, Yuiko Tsukada¹, Hisako Kunieda¹, Makoto Osada¹, Kohei Yamazaki¹, Ryunosuke Denda¹, Shinichiro Okamoto¹, Takahide Kikuchi¹

Affiliation

¹ Division of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, Japan.

Abstract

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disease accompanied by mutations in CSF3R. Here, we present a patient with CNL who developed to acute myeloid leukemia (AML) at the same time that a t(4;12)(q12;p13) translocation appeared. The uniqueness of this cytogenetic abnormality led us to delineate the molecular aberrations relevant for clonal evolution. While the CSF3R mutation was present throughout the course of the disease, the SETBP1 mutation was newly acquired at the AML transformation. The present case suggests that careful monitoring of t(4;12)(q12;p13) and SETBP1 is crucial to predict AML evolution in CNL patients.

Keywords: Acute myeloid leukemia; Chronic neutrophilic leukemia; SETBP1; t(4 ； 12)(q12 ； p13).

Publication types

Case Reports