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

Pathologica. 2024 Feb;116(1):62-68. doi: 10.32074/1591-951X-936.ABSTRACTMale 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.PMID:38482676 | PMC:PMC10938273 | DOI:10.32074/1591-951X-936

Source: Pathologica - March 14, 2024 Category: Pathology Authors: Evelina Rogges Tiberio Corati Michelina Amato Domenico Campagna Juliette Farro Simona De Toffol Lucio Fortunato Leopoldo Costarelli Source Type: research