Huszno Joanna, Fiszer-Kierzkowska Anna, Pigłowski Wojciech, Mazur Magdalena
Clinical and ExperimentalOncologyDepartment, Maria Skłodowska-Curie MemorialCancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Center for TranslationalResearch and MolecularBiology of Cancer, Maria Skłodowska-Curie MemorialCancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Prz Menopauzalny. 2019 Dec;18(4):227-229. doi: 10.5114/pm.2019.93120. Epub 2020 Jan 15.
Male breast cancer (MBC) is a rare disease that occurs in ~0.2% of all neoplasms among men. The risk of developing MBC is higher in men with a genetic mutation (7%). The aim of this study was to evaluate the association between c.2808_2811del ACAA (p.Ala938Profs) mutation in MBC and clinicopathological factors. A 75-year-old patient was admitted to the Genetic Outpatient Clinic with a diagnosis of right breast cancer and with a family history of cancer (two daughters who were diagnosed with breast cancer at ages 46 and 38 years). Postoperative histopathological examination revealed tumor type pT2 N1a Mx, NST NG-3 G-3, Ki-67 (75%), HER2 (+), ER (+++), PR (+++), invasive carcinoma and luminal B subtype. The complete coding sequences of the and genes were analyzed for genomic DNA material using next generation sequencing on the Ion Torrent platform. The c.2808_2811delACAA (p.Ala938Profs) mutation was observed in the gene. The presence of the c.2808_2811delACAA (p.Ala938Profs) mutation in the gene was confirmed using the Sanger method. The same gene mutation was reported in one of the patient's daughters. The detected mutation causes the frameshift mutation, resulting in the creation of an additional translation termination codon and the synthesis of an abnormal protein. This mutation was associated with a later age of disease, a higher histological degree, a higher mitotic index, a positive steroid receptor status and the luminal B subtype HER2- breast cancer.
男性乳腺癌（MBC）是一种罕见疾病，约占男性所有肿瘤的0.2%。发生基因突变的男性患MBC的风险更高（7%）。本研究的目的是评估MBC中c.2808_2811del ACAA（p.Ala938Profs）突变与临床病理因素之间的关联。一名75岁患者因诊断为右乳腺癌且有癌症家族史（两名女儿分别在46岁和38岁时被诊断为乳腺癌）入住遗传门诊。术后组织病理学检查显示肿瘤类型为pT2 N1a Mx、NST NG-3 G-3、Ki-67（75%）、HER2（+）、ER（+++）、PR（+++）、浸润性癌和管腔B亚型。使用Ion Torrent平台上的下一代测序技术对基因组DNA材料分析了和基因的完整编码序列。在基因中观察到c.2808_2811delACAA（p.Ala938Profs）突变。使用桑格法确认了基因中存在c.2808_2811delACAA（p.Ala938Profs）突变。在患者的一名女儿中也报告了相同的基因突变。检测到的突变导致移码突变，从而产生额外的翻译终止密码子并合成异常蛋白质。这种突变与疾病的较晚发病年龄、较高的组织学分级、较高的有丝分裂指数、类固醇受体阳性状态以及管腔B亚型HER2-乳腺癌相关。
