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BCR-ABL1 -like B-acute lymphoblastic leukemia (B-ALL) is a genetically heterogeneous group of high-risk B-ALL that benefits from targeted tyrosine kinase inhibitor (TKI) therapy. The incidence of this high-risk B-ALL is relatively low and screening with surrogate markers will be useful to identify patients for further genetic testing. Here we demonstrate that widely available MUC4 protein immunohistochemistry (IHC) is predictive of a  BCR-ABL1 -like genotype for a subset of patients. Overall, MUC4 expression was observed in 36% (9/25)  BCR-ABL1 -like, 43% (3/7)  BCR-ABL1 + and 9% (2/22) B-ALL other cases ( p =.019 for  BCR-ABL1  like and  BCR-ABL1 +  versus  B-ALL others). Furthermore, 83% (5/6) of patients with  ABL  class fusions showed MUC4 expression when compared to 25% (4/16,  p =.006) patients with  JAK  class fusions. Overall, the study demonstrates that MUC4 expression is highly specific (90.9%) for  BCR-ABL1 + and  BCR-ABL1 -like B-ALL with high sensitivity for cases with ABL class fusions.

MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1 -like B-lymphoblastic leukemia