CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile. (2022)

• Record Type: Journal Article
• Authors: Kwon, Adelaide; Ibrahim, Ibrahim; Le, Tri; Jaso, Jesse Manuel; Weinberg, Olga; Fuda, Franklin; Chen, Weina
• Is Part Of: Leukemia research reports. Volume 17(2022)
• Publication Date: 2022
• Subjects: CSF3R -- Chronic myelomonocytic leukemia -- Chronic neutrophilic leukemia -- Atypical chronic myeloid leukemia; Leukemia -- Periodicals; Lymphomas -- Periodicals; Multiple myeloma -- Periodicals; Leukemia -- Periodicals; Lymphoma -- Periodicals; Multiple Myeloma -- Periodicals; Hematologic Neoplasms -- Periodicals; Leukemia; Lymphomas; Multiple myeloma; Electronic journals; Periodicals; 616.9941905
• DOI: 10.1016/j.lrr.2022.100323
• Languages: English
• ISSNs: 2213-0489

Abstract

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.