TY - JOUR
T1 - CSF3R T618I mutated chronic myelomonocytic leukemia
T2 - A proliferative subtype with a distinct mutational profile
AU - Kwon, Adelaide
AU - Ibrahim, Ibrahim
AU - Le, Tri
AU - Jaso, Jesse Manuel
AU - Weinberg, Olga
AU - Fuda, Franklin
AU - Chen, Weina
N1 - Publisher Copyright:
© 2022
PY - 2022/1
Y1 - 2022/1
N2 - 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.
AB - 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.
KW - Atypical chronic myeloid leukemia
KW - CSF3R
KW - Chronic myelomonocytic leukemia
KW - Chronic neutrophilic leukemia
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UR - http://www.scopus.com/inward/citedby.url?scp=85129987052&partnerID=8YFLogxK
U2 - 10.1016/j.lrr.2022.100323
DO - 10.1016/j.lrr.2022.100323
M3 - Article
C2 - 35586707
AN - SCOPUS:85129987052
SN - 2213-0489
VL - 17
JO - Leukemia Research Reports
JF - Leukemia Research Reports
M1 - 100323
ER -