Faculty, Staff and Student Publications
Publication Date
8-1-2025
Journal
Archives of Pathology & Laboratory Medicine
DOI
10.5858/arpa.2024-0228-OA
PMID
39711284
Abstract
Context.—: Blasts in myelodysplastic syndromes (MDSs) typically have a primitive myeloid immunophenotype (CD34+CD117+CD13+CD33+HLA-DR+). On rare occasions, blasts were found to be CD34 negative or minimally expressed in a presumptive MDS.
Objective.—: To investigate the occurrence of these cases, and to examine any unique molecular genetic features, and clinical relevance.
Design.—: More than 2000 flow cytometry immunophenotyping tests for MDS performed during a 5-year period were retrospectively reviewed. Chronic myelomonocytic leukemia and overt acute myeloid leukemia (AML) (≥20% blasts) were excluded.
Results.—: Approximately 800 cases had abnormal myeloblasts consistent with myeloid neoplasms; 96% of cases showed a typical primitive phenotype, but 31 patients (4%) had unusual blasts that were either completely or partially negative for CD34. Of the latter, recurrent genetic abnormalities were identified in 13 (42%) including 10 with nucleophosmin 1 (NPM1) mutation, 1 with lysine methyltransferase 2A (KMT2A) rearrangement, and 2 with t(3;5)(q25.3;q35.1)/NPM1::myeloid leukemia factor 1 (MLF1). These cases were classified as MDS prior to the 2022 classifications, but 9 of 13 (69%) and 7 of 13 (54%) cases would be reclassified as AML according to the 5th edition of the World Health Organization classification and the International Consensus Classification, respectively. Eight cases (26%) had multihit tumor protein p53 (TP53) mutation, and 6 of them were ultimately diagnosed as or quickly evolved to pure erythroid leukemia. Of the remaining 10 cases, 4 uncharacteristically had no detectable molecular genetic abnormalities.
Conclusions.—: Our data show that if a presumptive MDS shows a nonprimitive blast phenotype, caution is needed to rule out AML with recurrent genetic abnormality with an oligoblastic presentation, high-risk myeloid neoplasms with double-hit TP53 mutation with abnormal erythroid proliferation, and MDS with molecular-genetic and clinical features more akin to AML.
Keywords
Humans, Myelodysplastic Syndromes, Nucleophosmin, Immunophenotyping, Male, Aged, Female, Middle Aged, Retrospective Studies, Aged, 80 and over, Adult, Mutation, Histone-Lysine N-Methyltransferase, Granulocyte Precursor Cells, Flow Cytometry, Nuclear Proteins, Antigens, CD34, Myeloid-Lymphoid Leukemia Protein
Published Open-Access
yes
Recommended Citation
Sameeta, Fnu; Wang, Wei; Jelloul, Fatima Zahra; et al., "The Significance of Detecting an Unusual Myeloblast Immunophenotype in a Presumptive Clinical Diagnosis of Myelodysplastic Syndromes" (2025). Faculty, Staff and Student Publications. 5105.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/5105
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