在MINAS早期发作的乳腺癌中同时出现的四种致病变体
Davide Bondavalli1, Mario Urtis1, Maurizia Grasso1
1Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Tumori
|December 12, 2024
概括
多位遗传性新生代基因综合征 (MINAS) 涉及多种癌症易感基因变异. 这一案例突显出一种罕见的侵袭性乳腺癌的表现,强调了对MINAS患者及其家人更好的风险预测和监测策略的需要.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 医学遗传学 医学遗传学
背景情况:
- 多位遗传性新生代基因综合征 (MINAS) 的特点是多个癌症易感性基因 (CSG) 中的生殖系病原体变异.
- 据报道,MINAS的报道不足,与其相关的表型难以预测.
- 详细的病例描述对于改善MINAS患者及其亲属的风险评估,治疗和监测至关重要.
研究的目的:
- 报告一个独特的早期发病,双焦,非三阴性乳腺癌的病例,患有MINAS的患者.
- 为了突出这一患者的快速转移性进展和致命结局.
- 强调遗传检测和家庭查在管理MINAS中的重要性.
主要方法:
- 对该患者进行了多基因小组测试.
- 在 *PALB2*, *ATM*, *PMS2* 和 *MUTYH* 中发现了生殖系变异.
- 对患者的父母和兄弟进行了包括成像在内的家庭查.
主要成果:
- 患者出现了早期发病的,双焦的,非三阴性乳腺癌和快速大脑转移.
- 基因检测发现了同时发生的致病变体: *PALB2* (c.1221del; p.Thr408fs*40), *ATM* (c.8545C>T; p.Arg2849*), *PMS2* (c.1919C>A; p.Ser640*),和 *MUTYH* (c.1103G>A; p.Gly368Asp).
- 家庭分离分析显示了这些变体的遗传模式,兄弟继承了*ATM*和*PMS2*变体. 家庭查排除了亲属的恶性瘤.
结论:
- 在MINAS患者中,对特定器官的癌症风险缺乏预测工具.
- 与多个CSG变异相关的表型不确定性需要持续的临床监测.
- 从复杂的MINAS案例中共享数据对于加强风险分层和管理策略至关重要.
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