IGJ and SPATS2L immunohistochemistry sensitively and specifically identify BCR::ABL1+ and BCR::ABL1‐like B‐acute lymphoblastic leukaemia

Abstract

SummaryTherapeutic management and prognostication for patients with B‐acute lymphoblastic leukaemia (B‐ALL) require appropriate disease subclassification. BCR::ABL1‐like B‐ALL is unique in that it is defined by a gene expression profile similar to BCR::ABL1+ B‐ALL rather than a unifying recurrent translocation. Current molecular/cytogenetic techniques to identify this subtype are expensive, not widely accessible, have long turnaround times and/or require an adequate liquid biopsy. We have studied a total of 118 B‐ALL cases from three institutions in two laboratories to identify surrogates for BCR::ABL1+/like B‐ALL. We report that immunoglobulin joining chain (IGJ) and spermatogenesis associated serine‐rich 2‐like (SPATS2L) immunohistochemistry (IHC) sensitively and specifically identify BCR::ABL1+/like B‐ALL. IGJ IHC positivity has a sensitivity of 83%, a specificity of 95%, a positive predictive value (PPV) of 89% and a negative predictive value (NPV) of 90%. SPATS2L staining has similar sensitivity and NPV but lower specificity (85%) and PPV (70%). The presence of either IGJ or SPATS2L staining augments the sensitivity (93%) and NPV (95%). While these findings would need to be validated in larger studies, they suggest that IGJ and/or SPATS2L IHC may be utilized in identifying BCR::ABL1‐like B‐ALL or in selecting B‐ALL cases for confirmatory molecular/genetic testing, particularly in resource‐limited settings.