Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.

Autor: Kim SY; Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address: ksuny55@gmail.com., Song IC; Division of Hematology/Oncology, Department of Internal Medicine, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Republic of Korea., Kim J; Department of Laboratory Medicine, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Republic of Korea., Kwon GC; Department of Laboratory Medicine, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Republic of Korea.
Jazyk: angličtina
Zdroj: Annals of diagnostic pathology [Ann Diagn Pathol] 2024 Aug; Vol. 71, pp. 152317. Date of Electronic Publication: 2024 Apr 18.
DOI: 10.1016/j.anndiagpath.2024.152317
Abstrakt: We report a series of patients with CSF3R-mutant (CSF3R mut ) atypical chronic myeloid leukemia (aCML), chronic neutrophilic leukemia (CNL) or other hematologic malignancies. We included 25 patients: 5 aCML and 4 CNL CSF3R mut patients; 1 aCML, 2 CNL, and 2 myelodysplastic/myeloproliferative neoplasm, not otherwise specified patients without CSF3R mutation; and 11 CSF3R mut patients with other diseases [8 acute myeloid leukemia (AML), 1 chronic myelomonocytic leukemia (CMML), 1 myelodysplastic syndrome (MDS), and 1 acute lymphoblastic leukemia (ALL)]. Patients with aCML or CNL were tested by Sanger sequencing and pyrosequencing to identify CSF3R T618I. Twenty-two patients underwent gene panel analysis. CSF3R mutations, mostly T618I (8/9), were found at high frequencies in both aCML and CNL patients [5/6 aCML and 4/6 CNL]. Two aCML patients in early adulthood with CSF3R T618I and biallelic or homozygous CEBPA mutations without other mutations presented with increased blasts and exhibited remission for >6 years after transplantation. The other 7 CSF3R mut aCML or CNL patients were elderly adults who all had ASXL1 mutations and frequently presented with SEBP1 and SRSF2 mutations. Five AML patients had CSF3R exon 14 or 15 point mutations, and 6 other patients (3 AML, 1 CMML, 1 MDS, and 1 ALL) had truncating mutations, demonstrating differences in leukocyte counts and mutation status. In conclusion, CSF3R mutations were found at a higher frequency in aCML patients than in previous studies, which might reflect ethnic differences. Additional studies are needed to confirm these findings and the relationship between CSF3R and CEBPA mutations.
Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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