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。

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
{"title":"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。","authors":"Evelina Rogges, Tiberio Corati, Michelina Amato, Domenico Campagna, Juliette Farro, Simona De Toffol, Lucio Fortunato, Leopoldo Costarelli","doi":"10.32074/1591-951X-936","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":null,"pages":null},"PeriodicalIF":4.4000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938273/pdf/","citationCount":"0","resultStr":"{\"title\":\"Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.\",\"authors\":\"Evelina Rogges, Tiberio Corati, Michelina Amato, Domenico Campagna, Juliette Farro, Simona De Toffol, Lucio Fortunato, Leopoldo Costarelli\",\"doi\":\"10.32074/1591-951X-936\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":45893,\"journal\":{\"name\":\"PATHOLOGICA\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938273/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PATHOLOGICA\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32074/1591-951X-936\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-936","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.

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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信