Morphologic, immunophenotypic, and molecular genetic comparison study in patients with clonal cytopenia of undetermined significance, myelodysplastic syndrome, and acute myeloid leukemia with myelodysplasia‐related changes: A single institution experience

Autor: Gao, Linlin, Hyter, Stephen, Zhang, Da, Kelting, Sarah, Woodroof, Janet, Abdallah, Al‐Ola, Yacoub, Abdulraheem, McGuirk, Joseph, Abdelhakim, Haitham, Godwin, Andrew K., Cui, Wei
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Zdroj: International Journal of Laboratory Hematology; Aug2022, Vol. 44 Issue 4, p738-749, 12p
Abstrakt: Introduction: Next‐generation sequencing (NGS) analysis showed clonal cytopenia of undetermined significance (CCUS) as an immediate precursor to myelodysplastic syndrome (MDS). Methods: We evaluated and compared morphologic, multiparametric flow cytometry (MFC), and molecular genetic findings in patients with CCUS (n = 37), MDS (n = 75), and acute myeloid leukemia with myelodysplasia‐related changes (AML‐MRC, n = 24). Results: CCUS patients showed variable MFC abnormalities including >2% CD34+ myeloblasts (5.8%), altered antigen expression on myeloblasts, monocytes, and granulocytes (1.2, 1.5, and 0.2/case), abnormal maturation of myeloblasts (45.8%), decreased hematogones (17.6%), and decreased side scatter (SSC) of granulocytes (11.4%). CCUS patients with high‐risk mutations showed significantly more MFC abnormalities. However, CCUS patients with >20% variant allelic fraction (VAF) did not show more MFC aberrations than the rest of the group. MDS patients showed significantly more MFC abnormalities compared with CCUS patients (p = 7.8E‐05–0.047). Low‐grade MDS patients showed significantly fewer MFC abnormalities compared with high‐grade MDS or AML‐MRC patients (p = 1.89E‐05–0.04). AML‐MRC patients showed significantly elevated blast counts, more antigen aberrations, decreased hematogones, and decreased SSC of granulocytes compared with CCUS patients (p = 2.0E‐05–0.01). CCUS patients carried predominantly TET2/DNMT3A/ASXL1 mutations. They harbored fewer mutations in gene coding splicing factors compared with MDS patients (p =.0001–.02) and fewer mutations in tumor suppressor and transcription factor genes compared with AML‐MRC patients (p =.0006–.02). Conclusions: CCUS is an immediate precursor to low‐grade MDS. The progression from CCUS to MDS to AML‐MRC is a stepwise process that requires acquisition of mutations in splicing, transcription factor, and tumor suppressor genes with accumulations of additional MFC abnormalities. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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