Institute of Human Genetics, Ulm University and Ulm University Medical Center, D-89081, Ulm, Germany.
Institute of Human Genetics, Christian-Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, D-24105, Kiel, Germany.
J Med Case Rep. 2020 Dec 18;14(1):245. doi: 10.1186/s13256-020-02526-2.
Whereas lymphoma of the female breast is already rare, lymphoma of the male breast has only anecdotally been reported. Within a study of 32 lymphoma of the breast reported between 1973 and 2014 as Burkitt lymphoma, we observed a single male case, which we report here.
A 72-years-old Caucasian man presented with a mass in his left breast. Clinical history included prior basal cell carcinoma, leiomyosarcoma, and administration of spironolactone. The reference pathology diagnosis at presentation was Burkitt lymphoma according to the Kiel Classification. The present re-investigation using fluorescence in situ hybridization revealed an IGH-MYC translocation and a break in the BCL2 locus in the tumor cells. Thus, in light of the current WHO classification, the diagnosis was revised to high-grade B-cell lymphoma with MYC and BCL2 rearrangement, Burkitt morphology (so-called "double-hit" lymphoma). Genome-wide chromosomal imbalance mapping revealed a complex pattern of aberrations in line with this diagnosis. The aberrations, including copy-number gains in chromosomes 3q and 18 and focal homozygous loss in 9p21.3, resembled typical changes of lymphomas affecting "immune-privileged" sites.
The present case adds to the understanding of the pathogenesis of male breast lymphomas, about which hardly any molecular characterization has been published yet.
尽管女性乳腺淋巴瘤已经较为罕见，但男性乳腺淋巴瘤仅偶有报道。在对 1973 年至 2014 年间报告的 32 例乳腺淋巴瘤（其中包括伯基特淋巴瘤）进行研究时，我们观察到了一例罕见的男性病例，现对此病例进行报告。
一名 72 岁的白人男性因左乳肿块就诊。既往病史包括基底细胞癌、平滑肌肉瘤和螺内酯治疗史。就诊时的参考病理诊断为伯基特淋巴瘤，根据 Kiel 分类。目前采用荧光原位杂交法进行的重新检查显示肿瘤细胞中存在 IGH-MYC 易位和 BCL2 基因座断裂。因此，根据目前的世界卫生组织分类，诊断被修订为伴有 MYC 和 BCL2 重排的高级别 B 细胞淋巴瘤，伯基特形态（所谓的“双打击”淋巴瘤）。全基因组染色体不平衡图谱显示符合该诊断的复杂染色体异常模式。这些异常包括 3q 和 18 号染色体的拷贝数增益以及 9p21.3 处的局部纯合性缺失，类似于影响“免疫特权”部位的淋巴瘤的典型改变。
本病例增加了对男性乳腺淋巴瘤发病机制的理解，目前关于该病的分子特征几乎没有报道。
