30 August 2018 : Case report
Double-Hit Lymphoma (MYC and BCL6) with Involvement of Skull and Adnexal Lesions: A Case Report and a Review of the Literature
Challenging differential diagnosis, Rare diseaseHamza Minhas1AEF, Cherif Abdelmalek1ADEF, Marium Khan2EF, James E. O'Donnell3CDE, Vladimir Gotlieb1ADE, Jen Chin Wang1AD*
Am J Case Rep 2018; 19:1035-1041
BACKGROUND: Double-hit lymphomas (DHL) belong to a category of very aggressive lymphomas characterized by MYC translocation and either BCL2, or less commonly, BCL6 translocations. Those with BCL6 translocations have a predilection for rare extranodal sites such as the gastrointestinal tract, nasopharynx, and tonsils. Involvement of the skull and adnexal structures is rare. Here we report a case of a young female with both skull and adnexal involvement.
CASE REPORT: A 20-year-old female who presented with hypercalcemia was found to have adnexal, skull, and jaw masses. Workup revealed a stage IV high grade B-cell lymphoma (HGBL) with MYC and BCL6 rearrangements. She was subsequently treated with R-EPOCH and attained complete remission 9 months after her initial presentation. To the best of our knowledge, our patient represents the first reported case of skull and adnexal involvement in HGBL with MYC and BCL6 rearrangement.
CONCLUSIONS: Rare extranodal presentations of HGBL with MYC and BCL6 rearrangement should be considered in the differential diagnosis of masses found in unusual sites such as the skull and adnexa. Due to their aggressive nature, early and prompt recognition of these lymphomas is essential for timely administration of appropriate therapy.
Keywords: Genes, myc, Lymphoma, B-Cell, Proto-Oncogene Proteins c-bcl-6
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