Background: Several particular kinds of typical morphology characteristics of leukemic blasts associated with the specific subtypes of leukemia have been reported. However, B acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) has rarely been reported. The purpose of this study was to investigate the correlation of TCF3::PBX1 fusion with multiple clefts nuclei of blasts in patients with B-ALL/LBL.

Methods: We retrospectively reviewed peripheral blood (PB) and bone marrow (BM) smears of 145 patients prepared at the time of initial diagnosis of B-ALL/LBL based on the results of testing for the TCF3::PBX1 fusion.

Results: We investigated the association among this morphological phenotype and hematologic findings, disease markers, fusions of TCF3::PBX1, BCR::ABL1, and ETV6::RUNX1, KMT2A rearrangement, and no such fusions and rearrangements. Multiple clefts nuclei of blasts were found in 13 patients (8.97%) diagnosed with B-ALL/ LBL. Positive association between multiple clefts nuclei of blasts and TCF3::PBX1 fusion in patients with B-ALL/ LBL was observed after full adjustment for all the confounding variables (p < 0.05).

Conclusions: The morphology of multiple clefts nuclei in blasts was strongly correlated with TCF3::PBX1 fusion in patients with B-ALL/LBL. Therefore, testing for TCF3::PBX1 fusions is recommended for patients with the morphology of multiple clefts nuclei in blasts.

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http://dx.doi.org/10.7754/Clin.Lab.2024.240904DOI Listing

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