Molecular characterization of Burkitt lymphoma presenting in the breast and/or the ovary

Abstract

Burkitt lymphoma (BL) of the breast and the ovary were rarely described in the literature. In contrast, the World Health Organization (WHO) of the tumors of hematopoietic and lymphoid tissue described the breast and the ovaries as common sites of involvement by BL. In the following thesis, a historic series of 45 lymphomas of the breast or the ovary diagnosed between 1973 and 2014 as BL were revised. Molecular cytogenetic techniques including fluorescence in situ hybridization was applied to all, and array-based copy number analysis as well as expression profiling to a subset of those cases. Of the 43 cases evaluable for FISH, 20 cases showed an IG::MYC translocation but only 9 of those fulfilled the criteria of the current WHO classification for the diagnosis of BL. Those nine cases resembled other nodal BL with respect to the molecular characteristics. Notably, one male case historically diagnosed as BL was re-diagnosed and EBV-negative high-grade B-cell lymphoma with rearrangements at the MYC and the BCL2 loci , or shortly, as “double hit” lymphoma. These findings along with literature data suggest that breast and ovarian BL (1) seem to be rarer than expected, (2) share typical molecular features with other BL, and (3) pre- dominantly affect women in the fertile age