Genomic heterogeneity within B/T mixed phenotype acute leukemia in a context of an immunophenotype

IF 0.7 Q4 HEMATOLOGY

Leukemia Research Reports Pub Date : 2024-01-01 DOI:10.1016/j.lrr.2023.100410

Ruifang Zheng , Franklin Fuda , Jeffrey R. Gagan , Olga K. Weinberg , Prasad Koduru , Miguel Cantu , Kathleen Ludwig , Jamie M. Truscott , Robert Collins , Stephen Chung , Yazan F. Madanat , Weina Chen

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Abstract

B/T mixed phenotype acute leukemia (MPAL) is a rare aggressive leukemia. Three cases of B/T MPAL were identified with comprehensive immunophenotypic, cytogenetic, and molecular studies. T-lineage predominant B/T MPAL shares a genetic signature with T-ALL whereas B/T lineage co-dominant B/T MPAL lacks such a T-ALL signature. All three patients were treated with lineage-matched-ALL therapy and alive at the last follow-up. Our study is the first to demonstrate molecular heterogeneity within B/T MPAL in a context of an immunophenotype of T-lineage versus B-lineage predominance. The implication of such a phenotype-genotype association on diagnostic classification is briefly discussed.

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免疫表型背景下 B/T 混合表型急性白血病的基因组异质性

B/T 混合表型急性白血病（MPAL）是一种罕见的侵袭性白血病。通过全面的免疫表型、细胞遗传学和分子研究，发现了三例 B/T MPAL。T系占优势的B/T MPAL与T-ALL具有相同的遗传特征，而B/T系共显性的B/T MPAL则缺乏T-ALL特征。这三位患者均接受了线粒体-匹配-ALL疗法，并在最后一次随访时存活。我们的研究首次证明了 B/T MPAL 在免疫表型为 T 系主导与 B 系主导的背景下存在分子异质性。本文简要讨论了这种表型-基因型关联对诊断分类的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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