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唾液腺肿瘤的等位基因型

Allelotype of salivary gland tumors.

作者信息

Johns M M, Westra W H, Califano J A, Eisele D, Koch W M, Sidransky D

机构信息

Department of Otolaryngology, Division of Head and Neck Cancer Research, Johns Hopkins University, Baltimore, Maryland 21205, USA.

出版信息

Cancer Res. 1996 Mar 1;56(5):1151-4.

PMID:8640776
Abstract

To elucidate the genetic alterations that occur in salivary gland tumors, we screened every autosomal arm (and the X-chromosome) of 29 primary human salivary gland neoplasms (11 pleomorphic adenomas, 10 adenoid cystic carcinomas, 5 mucopidermoid carcinomas, and 3 carcinomas ex-mixed tumors) for allelic loss using 86 microsatellite markers. A minimum of two microsatellite markers were used per chromosomal arm to achieve informativity of at least 60% (excluding X). The pleomorphic adenomas demonstrated few areas of allelic loss; the most prominent chromosomal arm involved was 12q, lost in more than 35% of informative cases. The most significant allelic losses in adenoid cystic carcinoma were 1p, 2p, 6q, 17p, and 20p (>20% of informative cases) and 19q (40% of informative cases). Mucoepidermoid carcinoma showed 50% or greater loss at 2q, 5p, 12p, and 16q. Although losses at 9p, 3p, and 17p are common in squamous cell carcinoma of the head and neck, only the carcinoma ex-mixed tumors demonstrated loss at these loci, consistent with progression to a more aggressive phenotype. Salivary gland tumors display allelic loss patterns different from many other tumor types, suggesting distinct genetic pathways in the progression of these tumors.

摘要

为了阐明涎腺肿瘤中发生的基因改变,我们使用86个微卫星标记物,对29例原发性人类涎腺肿瘤(11例多形性腺瘤、10例腺样囊性癌、5例黏液表皮样癌和3例混合瘤恶变癌)的每一条常染色体臂(以及X染色体)进行等位基因缺失筛查。每个染色体臂至少使用两个微卫星标记物,以实现至少60%的信息性(不包括X染色体)。多形性腺瘤显示出很少的等位基因缺失区域;涉及最显著的染色体臂是12q,在超过35%的信息性病例中发生缺失。腺样囊性癌中最显著的等位基因缺失是1p、2p、6q、17p和20p(>20%的信息性病例)以及19q(40%的信息性病例)。黏液表皮样癌在2q、5p、12p和16q显示出50%或更高的缺失。虽然9p、3p和17p的缺失在头颈部鳞状细胞癌中很常见,但只有混合瘤恶变癌在这些位点显示缺失,这与向更具侵袭性的表型进展一致。涎腺肿瘤显示出与许多其他肿瘤类型不同的等位基因缺失模式,提示这些肿瘤进展过程中有不同的遗传途径。

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