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小叶型乳腺癌中高度频发的der(1;16)(q10;p10)及其他16号染色体长臂改变。

Highly recurrent der(1;16)(q10;p10) and other 16q arm alterations in lobular breast cancer.

作者信息

Flagiello D, Gerbault-Seureau M, Sastre-Garau X, Padoy E, Vielh P, Dutrillaux B

机构信息

UMR 147 CNRS, Institut Curie, Section Recherche, Paris, France.

出版信息

Genes Chromosomes Cancer. 1998 Dec;23(4):300-6.

PMID:9824202
Abstract

Cytogenetic data on infiltrating lobular carcinomas (ILCs) of the breast are described. In addition to 9 tumors, including 2 bilateral ones, with apparently normal chromosomes, recurrent chromosome alterations were found among 18 tumors. A der(1;16)(q10;p10), resulting in 1q gain and 16q loss, was observed in 11 tumors. Chromosome arm 16q was lost by other rearrangements in 3 other tumors. Thus, the deletion of 16q appears to be highly recurrent in ILCs. Compared to infiltrating ductal carcinomas (IDCs), ILCs have fairly simple karyotypes that remain pseudo- or near-diploid in most cases. This finding is confirmed by DNA ploidy studied by flow cytometry, which shows that about half of the tumors are diploid. This makes the der(1;16)(q10;p10) and other alterations of the 16q arm an early alteration of tumor progression, possibly related to the loss of expression of E-cadherin, whose gene is mapped on the 16q arm.

摘要

本文描述了乳腺浸润性小叶癌(ILC)的细胞遗传学数据。除9例肿瘤(包括2例双侧肿瘤)染色体看似正常外,在18例肿瘤中发现了复发性染色体改变。在11例肿瘤中观察到导致1q增益和16q缺失的der(1;16)(q10;p10)。另外3例肿瘤通过其他重排丢失了染色体臂16q。因此,16q缺失在ILC中似乎高度复发。与浸润性导管癌(IDC)相比,ILC的核型相当简单,在大多数情况下保持假二倍体或近二倍体。流式细胞术研究的DNA倍性证实了这一发现,该研究表明约一半的肿瘤为二倍体。这使得der(1;16)(q10;p10)和16q臂的其他改变成为肿瘤进展的早期改变,可能与E-钙黏蛋白表达缺失有关,其基因定位于16q臂。

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