Leukemia Research Reports (Jan 2022)

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

Journal volume & issue
Vol. 17
p. 100323

Abstract

Read online

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