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乳腺上皮和间质良性增殖性疾病中的染色体异常。

Chromosome abnormalities in benign hyperproliferative disorders of epithelial and stromal breast tissue.

作者信息

Dietrich C U, Pandis N, Teixeira M R, Bardi G, Gerdes A M, Andersen J A, Heim S

机构信息

Department of Medical Genetics, Odense University, Denmark.

出版信息

Int J Cancer. 1995 Jan 3;60(1):49-53. doi: 10.1002/ijc.2910600107.

Abstract

Cytogenetic analysis of short-term cultures from 15 cases of benign proliferative breast disease (PBD), 10 diffuse PBD and 5 papillomas, and 15 fibroadenomas of the breast revealed clonal chromosome abnormalities in 7 diffuse PBD lesions, 4 papillomas and 5 fibroadenomas. The remaining 14 cases had a normal female chromosome complement. Cytogenetically unrelated abnormal clones were seen in 4 fibroadenomas and 2 PBDs. A single abnormal clone was found in 9 PBDs and 1 fibroadenoma. Three clonal abnormalities were seen as recurrent changes in 6 cases, namely interstitial deletions of 3p with 3p 12-14 as the minimally common deleted segment (in 1 papilloma, 1 diffuse PBD with atypia and 1 mixed-pattern lesion with both papilloma and atypical diffuse PBD features), r(9)(p24q34) (in 1 diffuse PBD and 1 fibroadenoma), and del(1)(q12)(again in 1 diffuse PBD and 1 fibroadenoma). Intriguingly, 6 of the 16 abnormal cases had chromosome changes that have been seen repeatedly as primary abnormalities in breast carcinomas: der(16)t(1;16)(q10;p10), del(3)(p12p14), and del(1)(q12). We conclude that some of the chromosome anomalies frequently found in breast carcinomas are also present in PBD and fibroadenomas. These aberrations may be accepted as early, neoplasia-relevant mutations. However, they do not seem to be sufficient by themselves to unleash a malignant process.

摘要

对15例乳腺良性增生性疾病(PBD)、10例弥漫性PBD和5例乳头状瘤以及15例乳腺纤维腺瘤的短期培养物进行细胞遗传学分析,结果显示,在7例弥漫性PBD病变、4例乳头状瘤和5例纤维腺瘤中存在克隆性染色体异常。其余14例具有正常的女性染色体组成。在4例纤维腺瘤和2例PBD中发现了细胞遗传学上不相关的异常克隆。在9例PBD和1例纤维腺瘤中发现了单个异常克隆。在6例病例中观察到3种克隆性异常为复发性改变,即3p的间质缺失,以3p12 - 14作为最小常见缺失片段(在1例乳头状瘤、1例伴有非典型性的弥漫性PBD和1例具有乳头状瘤和非典型弥漫性PBD特征的混合模式病变中),r(9)(p24q34)(在1例弥漫性PBD和1例纤维腺瘤中),以及del(1)(q12)(再次出现在1例弥漫性PBD和1例纤维腺瘤中)。有趣的是,16例异常病例中有6例具有在乳腺癌中反复出现的原发性异常的染色体改变:der(16)t(1;16)(q10;p10)、del(3)(p12p14)和del(1)(q12)。我们得出结论,在乳腺癌中经常发现的一些染色体异常也存在于PBD和纤维腺瘤中。这些畸变可能被视为早期的、与肿瘤形成相关的突变。然而,它们自身似乎不足以引发恶性过程。

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