Double-hit lymphoma of the male breast: a case report

Abstract

Background 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. Case presentation 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. Conclusion The present case adds to the understanding of the pathogenesis of male breast lymphomas, about which hardly any molecular characterization has been published yet.

Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient: case report and literature review

“…Reports describing the molecular features of male PBL are scarce. Only Shaymaa Elgaafary et al [ 17 ] reported a case of male breast high-grade B cell lymphoma with MYC and BCL2 rearrangement, and genome-wide chromosomal imbalance mapping revealed a complex pattern of aberrations, including copy-number gains in chromosomes 3q and 18 and focal homozygous loss in 9p21.3, resembling typical changes of lymphomas affecting “immune-privileged” sites.…”

Primary breast lymphoma in males: Incidence, demographics, prognostic factors, survival, and comparisons with females

“…Wiseman and Liao confirmed the definition of PBL in 1972, including the following criteria: (1) sufficient tumor tissue for histological examination; (2) no previous lymphoid malignancy at regions outside the breast; (3) lymphoma primarily presented within breast regions; and (4) close associations between lymphoma and breast tissue (5). This infrequent tumor was found especially in females, and quite uniquely, there were a few case reports in males in previous literature studies (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23). Due to the extreme rarity and unspecific manifestations, male patients with PBL are easily misdiagnosed clinically, thus delaying the optimal treatment time window and causing great pain to patients during the period of seeking medical advice.…”

“…While females constitute a majority of PBL patients (95%–100%) ( 25 ), male patients are extremely few in number. Less than 50 cases of male patients have been reported, and none of the cohorts of male PBL has been analyzed in previous literature studies ( 11 ). Thus, this study first conducted a comprehensive clinical analysis of PBL with the largest cohort of 122 male patients taken from the SEER database who were diagnosed between 2000 and 2019.…”

Primary Lymphomas of the Breast: A Review

“…It presents histologically as a diffuse infiltrate of medium-sized B cells, with a uniform growth pattern, which forms a characteristic “starry sky” appearance 27 ( Figure 4 A). Immunohistochemically, PB-BL is positive for CD20, as well as for the germinal centre markers CD10 and BCL6 27 , 30 , 31 ( Table 2 ) and are almost exclusively 100% positive for Ki67 ( Figure 4 B), highlighting the high proliferative capacity of PB-BL. 30 Both this high proliferation index and the presence of a chromosomal breakage and translocation of the MYC locus in over 90% of PB-BL cells 27 , 30 are characteristic of all forms of BL, not just those localised to the breast.…”

“…29 , 30 There have been reports, albeit very rarely, of males developing PB-BL; one case described a male with a history of basal cell carcinoma and spironolactone (anti-androgen) treatment presenting with high-grade PB-BL. 31 Interestingly the common denominator in these cases is a history of a significant hormonal alteration, thus suggesting a role for hormonal changes in the development of PB-BL.…”