Integrative immunophenotypic and genetic characterization of acute myeloid leukemia with CBFB rearrangement

作者：Fnu Sameeta, Sa A. Wang, Zhenya Tang, Joseph D. Khoury, Hong Fang, Dylan Wang, Jie Xu, Shaoying Li, Zhihong Hu, Shimin Hu, Jeffrey L. Jorgensen, L. Jeffrey Medeiros, Wei Wang · 发表于：American Journal of Clinical Pathology · 年份：2024 · DOI：10.1093/ajcp/aqae060 · 被引用次数：6 · 研究领域：Acute Myeloid Leukemia Research、Blood disorders and treatments、Myeloproliferative Neoplasms: Diagnosis and Treatment

OBJECTIVES: We sought to characterize the immunophenotype of acute myeloid leukemia (AML) with CBFB rearrangement and correlate the results with cytogenetic and molecular data. METHODS: Sixty-one cases of AML with CBFB rearrangement were evaluated. RESULTS: The sample population consisted of 33 men and 28 women, with a median age of 49 years. Flow cytometry immunophenotypic analysis showed that myeloblasts were positive for CD34 and CD117 in all cases, and myeloperoxidase was positive in 52 of 55 (95%) cases. The most common abnormalities included decreased CD38 in 90%, increased CD13 in 85%, increased CD123 in 84%, and decreased HLA-DR in 84% of cases. Monocytes were increased, with a mature immunophenotype, and accounted for 23.7% of total cells. Among 60 cases with available karyotype, inv(16)(p13.1q22) was most common in 50 (83%) cases, followed by t(16;16) (p13.1;q22) in 6 (10%). Type A CBFB::MYH11 transcript was most common, detected in 84% of cases. Mutational analysis showed mutations of NRAS in 37%, FLT3 in 25%, and KIT in 24% of cases. Comparing cases with type A vs non-type A transcripts, blasts in type A cases more frequently exhibited CD64 positivity and increased CD13 levels while showing a lower frequency of CD7 and CD56 expression. Trisomy 22 and mutations in KIT, NF1, and TET2 were identified only in cases with type A transcript. CONCLUSIONS: Myeloblasts of AML with CBFB rearrangement are positive for CD34, CD117, and myeloperoxidase. These neoplasms most fre...