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男性乳腺增生症和乳腺癌的染色体显带分析。

Chromosome banding analysis of gynecomastias and breast carcinomas in men.

作者信息

Teixeira M R, Pandis N, Dietrich C U, Reed W, Andersen J, Qvist H, Heim S

机构信息

Department of Genetics, The Norwegian Radium Hospital and Institute for Cancer Research, Oslo.

出版信息

Genes Chromosomes Cancer. 1998 Sep;23(1):16-20. doi: 10.1002/(sici)1098-2264(199809)23:1<16::aid-gcc3>3.0.co;2-9.

Abstract

Male breast cancer is 100 times less frequent than its female counterpart and accounts for less than 1% of all cancers in men. Although men with breast cancer also often have gynecomastia, it is still unknown whether gynecomastia per se predisposes the male breast to malignant disease. We describe the cytogenetic analysis of three gynecomastias and four breast cancers in men. No chromosome abnormalities were detected in two cases of gynecomastia, with no other concomitant breast disease. The third gynecomastia sample, taken from a site where a breast carcinoma had previously been removed, had a t(2;11)(p24;p13) as the sole chromosome change; this is the first time that an abnormal karyotype has been described in gynecomastia. All four cancers had clonal chromosome abnormalities. Several cytogenetically unrelated clones were found in the breast tumor and in a metastasis from case 1. In the carcinoma of case 2, a single abnormal clone was found, characterized by loss of the Y chromosome, monosomy 17, and a deletion of the long arm of chromosome 18. In the carcinoma of case 3, a clone with loss of the Y chromosome as the sole change dominated, accompanied by the gain of an X chromosome in a subclone. In the lymph node metastasis examined from case 4, a single clone carrying trisomies for chromosomes 5 and 16 was detected. Our findings, especially when collated with data on the six karyotypically abnormal breast carcinomas in men described previously, indicate that gain of the X chromosome, gain of chromosome 5, loss of the Y chromosome, loss of chromosome 17, and del(18)(q21) are nonrandom abnormalities in male breast carcinomas.

摘要

男性乳腺癌的发病率比女性乳腺癌低100倍,占男性所有癌症的比例不到1%。虽然男性乳腺癌患者也常伴有男性乳腺增生,但男性乳腺增生本身是否会使男性乳腺易患恶性疾病仍不清楚。我们描述了对3例男性乳腺增生和4例男性乳腺癌的细胞遗传学分析。在2例无其他伴随乳腺疾病的男性乳腺增生病例中未检测到染色体异常。取自先前已切除乳腺癌部位的第三例男性乳腺增生样本,唯一的染色体变化是t(2;11)(p24;p13);这是首次在男性乳腺增生中描述异常核型。所有4例癌症均有克隆性染色体异常。在病例1的乳腺肿瘤及其转移灶中发现了几个细胞遗传学上不相关的克隆。在病例2的癌组织中,发现了一个单一的异常克隆,其特征为Y染色体缺失、17号染色体单体性和18号染色体长臂缺失。在病例3的癌组织中,以Y染色体缺失为唯一变化的克隆占主导,亚克隆中伴有X染色体增加。在病例4检查的淋巴结转移灶中,检测到一个携带5号和16号染色体三体性的单一克隆。我们的研究结果,特别是与先前描述的6例核型异常的男性乳腺癌数据整理后表明,X染色体增加、5号染色体增加、Y染色体缺失、17号染色体缺失和del(18)(q21)是男性乳腺癌中的非随机异常。

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