Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2024-02-01 DOI:10.32074/1591-951X-936
Evelina Rogges, Tiberio Corati, Michelina Amato, Domenico Campagna, Juliette Farro, Simona De Toffol, Lucio Fortunato, Leopoldo Costarelli
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Abstract

Male breast cancer (MBC) accounts for approximately 1% of all breast cancers and among these infiltrating lobular carcinomas (ILC) represents only 1-2% of all MBC cases. Pleomorphic invasive lobular carcinoma (PILC) is an aggressive variant of ILC with only eight cases reported until now in males. Up to 10% of MBC cases have a germline pathogenic variant in a predisposing gene such as BRCA1 and BRCA2 genes. Mutations in PALB2 (partner and localizer of BRCA2) have been reported in men with breast cancer, with a frequency that ranges from 0.8 to 6.4%, but it has never been reported in male ILC. Here, we report a rare and interesting case of an invasive pleomorphic/solid lobular carcinoma, which carries a pathogenic variant in PALB2 gene, and a family history of breast cancer without other well defined risk factors for developing this type of neoplasia. In addition, we review the current literature.

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伴有 PALB2 基因突变的男性乳腺多形性/实性小叶癌:病例报告和文献综述。
男性乳腺癌(MBC)约占所有乳腺癌的 1%,其中浸润性小叶癌(ILC)仅占所有 MBC 病例的 1-2%。多形浸润性小叶癌(PILC)是浸润性小叶癌的一种侵袭性变异,迄今为止仅有八例男性病例报道。多达10%的MBC病例的易感基因(如BRCA1和BRCA2基因)存在种系致病变异。在男性乳腺癌患者中,PALB2(BRCA2 的伴侣和定位基因)的突变也有报道,其发生率从 0.8% 到 6.4% 不等,但在男性 ILC 中却从未有过报道。在此,我们报告了一例罕见而有趣的浸润性多形性/实性小叶癌病例,该病例携带 PALB2 基因的致病变体,且有乳腺癌家族史,没有其他明确的罹患此类肿瘤的危险因素。此外,我们还回顾了目前的文献。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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