Genomic heterogeneity within B/T mixed phenotype acute leukemia in a context of an immunophenotype
Ruifang Zheng, Franklin Fuda, Jeffrey Gagan, Olga K. Weinberg, Prasad Koduru, Miguel D. Cantu, Kathleen Ludwig, Jamie Truscott, Robert H. Collins, Stephen S. Chung, Yazan F. Madanat, Weina Chen
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.