CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile

Adelaide Kwon; Ibrahim Ibrahim; Tri Le; Jesse Manuel Jaso; Olga Weinberg; Franklin Fuda; Weina Chen

doi:10.1016/j.lrr.2022.100323

CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile

Leuk Res Rep. 2022 May 6:17:100323. doi: 10.1016/j.lrr.2022.100323. eCollection 2022.

Authors

Adelaide Kwon¹, Ibrahim Ibrahim², Tri Le², Jesse Manuel Jaso³, Olga Weinberg³, Franklin Fuda³, Weina Chen³

Affiliations

¹ Medical School, University of Texas Southwestern Medical Center at Dallas, TX, USA.
² Departments of Internal Medicine/Division of Hematology and Oncology, University of Texas Southwestern Medical Center at Dallas, TX, USA.
³ Department of Pathology, University of Texas Southwestern Medical Center at Dallas, 2330 Inwood Rd, TX, 75390-9317 USA.

Abstract

Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in TET2, ASXL1, SRSF2, SETBP1, NRAS, and KRAS. We describe a rare case of CSF3R T618I mutated CMML that has a proliferative phenotype, myelodysplasia, and additional mutations in ASXL1, SETBP1, KRAS, and PTPN11. Comparing the clinicopathologic features of this case to previously reported cases of CSF3R T618I mutated CMML and CSF3R non-T618I mutated CMML, CSF3R T618I seems to define a unique proliferative subtype of CMML with a distinct mutational profile. The diagnostic challenges and molecular pathogenesis associated with this case are also briefly discussed.

Keywords: Atypical chronic myeloid leukemia; CSF3R; Chronic myelomonocytic leukemia; Chronic neutrophilic leukemia.

Publication types

Case Reports