Abstract
Classification of DLBCL relies on clinical, immunohistochemical, and genetic information. We report a case of primary testicular diffuse large B-cell lymphoma (PT-DLBCL) with a hitherto unreported constellation of pathologic findings to illustrate the challenges of DLBCL classification. A standard hematopathology workup was followed by gene expression profiling (GEP) to determine the DLBCL cell of origin (COO). A 75-year-old man presented with a unilateral testicular mass that had developed over the course of 1 month. Pathologic examination demonstrated involvement by DLBCL. Clinical staging revealed no systemic disease. Genetic testing showed an MYD88 mutation, as well as IGH::MYC and IRF4- and BCL6-rearrangements. Gene expression profiling demonstrated an activated B-cell expression profile. This case highlights the genetic complexity of DLBCL arising in the testis and questions the clinical significance of the identified genetic abnormalities.
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The authors thank Cody Artymiuk and David Viswanatha for technical assistance.
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Dr. L. Rimza is a named inventor on intellectual property associated with the PM3CX assay. The remaining authors declare no conflict of interest.
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Bruehl, F.K., Ketterling, R.P., Rimsza, L.M. et al. “Quadruple-hit” primary testicular diffuse large B-cell lymphoma with MYD88 L265P mutation, IGH::MYC, and IRF4- and BCL6-rearrangements. J Hematopathol 16, 161–165 (2023). https://doi.org/10.1007/s12308-023-00556-5
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DOI: https://doi.org/10.1007/s12308-023-00556-5