{"doi":"10.1111/ijlh.13840","title":"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","abstract":"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.","journal":"International Journal of Laboratory Hematology","year":2022,"id":287286,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8964,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":52767,"name":"Stephen Hyter","orcid":"0000-0001-8176-9644","position":1,"is_corresponding":false},{"id":647686,"name":"Da Zhang","orcid":"0000-0002-2613-1354","position":2,"is_corresponding":false},{"id":967336,"name":"Sarah Kelting","orcid":null,"position":3,"is_corresponding":false},{"id":966922,"name":"Janet Woodroof","orcid":"0000-0002-0949-2836","position":4,"is_corresponding":false},{"id":966923,"name":"Al‐Ola Abdallah","orcid":"0000-0002-6603-185X","position":5,"is_corresponding":false},{"id":846485,"name":"Abdulraheem Yacoub","orcid":"0000-0001-5293-4620","position":6,"is_corresponding":false},{"id":108400,"name":"Joseph P. McGuirk","orcid":"0000-0002-0539-4796","position":7,"is_corresponding":false},{"id":436760,"name":"Haitham Abdelhakim","orcid":null,"position":8,"is_corresponding":false},{"id":34241,"name":"Andrew K. Godwin","orcid":"0000-0002-3987-9580","position":9,"is_corresponding":false},{"id":456089,"name":"Wei Cui","orcid":"0000-0002-8177-0538","position":10,"is_corresponding":false},{"id":966921,"name":"Linlin Gao","orcid":"0000-0003-1556-8427","position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":null,"created_at":"2026-07-19T00:29:56.781756Z","pmid":"35352484","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}