Johns M M, Westra W H, Califano J A, Eisele D, Koch W M, Sidransky D
Department of Otolaryngology, Division of Head and Neck Cancer Research, Johns Hopkins University, Baltimore, Maryland 21205, USA.
Cancer Res. 1996 Mar 1;56(5):1151-4.
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.
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。
