在TP53远端的17p13.3-末端杂合性缺失与散发性乳腺癌的阴性激素表型相关。

Loss of heterozygosity at 17p13.3-ter, distal to TP53, correlates with negative hormonal phenotype in sporadic breast cancer.

作者信息

Roncuzzi Laura, Brognara Irene, Baiocchi Daniela, Amadori Dino, Gasperi-Campani Anna

机构信息

Department of Experimental Pathology, University of Bologna, Via San Giacomo 14, Bologna 40126, Italy.

出版信息

Oncol Rep. 2005 Aug;14(2):471-4.

DOI:
Abstract

Genetic alterations on chromosome 17p are frequent in a variety of human malignancies such as sporadic breast carcinomas. The clinico-pathological significance of it remains to be elucidated. The purpose of this study was to explore whether the allelic loss (LOH) in 17p13.3, which is suggested by the presence of tumour suppressor genes, independent of TP53, are related to current clinico-pathological criteria for characterising breast cancer. A group of sporadic breast carcinomas, with no alteration in TP53 locus, were analysed for the presence of LOH in D17S34 and D17S30/5 loci, mapped to the 17p13.3 region, distinct from and telomeric to TP53. LOH by at least one marker was observed in 13 of 47 informative cases (27.6%). Clinicopathological parameters such as age, menopausal status, histological type, tumour size, nodal status, grading, ploidy, labelling index, S-phase fraction and hormonal phenotype, were evaluated. LOH at distal 17p13.3 significantly correlated with the absence of oestrogen receptors (ER) (P=0.018), progesterone receptors (PgR) (P=0.009) and concordant absence of either ER or PgR (P=0.006). This may provide a basis for speculation as to the function of the putative tumour suppressor genes in 17p13-ter in sporadic breast cancer.

摘要

17号染色体短臂上的基因改变在多种人类恶性肿瘤中很常见,如散发性乳腺癌。其临床病理意义仍有待阐明。本研究的目的是探讨17p13.3区域的等位基因缺失(LOH)(由肿瘤抑制基因的存在提示,独立于TP53)是否与目前用于表征乳腺癌的临床病理标准相关。对一组TP53基因座无改变的散发性乳腺癌进行分析,检测定位于17p13.3区域、与TP53不同且位于其端粒的D17S34和D17S30/5位点的LOH情况。在47例信息充分的病例中,有13例(27.6%)观察到至少一个标记物存在LOH。评估了年龄、绝经状态、组织学类型、肿瘤大小、淋巴结状态、分级、倍体、标记指数、S期分数和激素表型等临床病理参数。17p13.3远端的LOH与雌激素受体(ER)缺失(P=0.018)、孕激素受体(PgR)缺失(P=0.009)以及ER或PgR同时缺失(P=0.006)显著相关。这可能为推测17p13末端假定的肿瘤抑制基因在散发性乳腺癌中的功能提供依据。

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