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涎腺黏液表皮样癌中的多个相互易位

Multiple reciprocal translocations in salivary gland mucoepidermoid carcinomas.

作者信息

Tonon Giovanni, Gehlhaus Kristen Stover, Yonescu Raluca, Kaye Frederic J, Kirsch Ilan R

机构信息

Genetics Branch, National Cancer Institute, NNMC, 8901 Wisconsin Avenue, Bldg. 8, Room 5101, Bethesda, MD 20889-5105, USA.

出版信息

Cancer Genet Cytogenet. 2004 Jul 1;152(1):15-22. doi: 10.1016/j.cancergencyto.2003.10.007.

Abstract

Mucoepidermoid carcinoma, the most common human malignant salivary gland tumor, can arise from both major and minor salivary glands, including sites within the pulmonary tracheobronchial tree. We performed comparative genomic hybridization (CGH) and spectral karyotyping (SKY) on two tumor cell lines: H3118, derived from tumor originating in the parotid gland, and H292, from tumor in the lung. In both cell lines, CGH showed a partial gain within the short arm of chromosome 7 and SKY revealed the presence of the previously reported reciprocal translocation t(11;19)(q21;p12). Additional chromosomal rearrangements were found in both cell lines, including three more reciprocal translocations in cell line H292 [t(1;16), t(6;8)x2] and three other reciprocal translocations in cell line H3118 [t(1;7), t(3;15), and t(7;15)]. A review of the literature of other reported cases of mucoepidermoid carcinomas analyzed with standard G-banding techniques, as well as distinct benign salivary gland tumors, such as pleomorphic adenomas and Warthin tumor, confirmed the presence of a karyotype dominated by reciprocal translocations. Four chromosomal bands were involved in chromosomal translocations in both cell lines: 1q32, 5p15, 7q22, and 15q22. Fluorescence in situ hybridization studies showed that the breakpoints in these four bands were often within a few megabases of each other. The involvement of similar chromosomal bands in breakpoints in these two cell lines suggests that these regions may be predisposed or selected for chromosomal rearrangements in this tumor type. The presence of multiple reciprocal translocations in both benign and malignant salivary gland tumors may also suggest a particular mechanism within mucous or serous glands mediating chromosomal rearrangements.

摘要

黏液表皮样癌是人类最常见的恶性唾液腺肿瘤,可发生于大唾液腺和小唾液腺,包括肺气管支气管树内的部位。我们对两个肿瘤细胞系进行了比较基因组杂交(CGH)和光谱核型分析(SKY):H3118源自腮腺肿瘤,H292源自肺肿瘤。在这两个细胞系中,CGH显示7号染色体短臂存在部分增益,SKY显示存在先前报道的相互易位t(11;19)(q21;p12)。在这两个细胞系中还发现了其他染色体重排,包括H292细胞系中的另外三个相互易位[t(1;16)、t(6;8)×2]和H3118细胞系中的另外三个相互易位[t(1;7)、t(3;15)和t(7;15)]。回顾其他用标准G带技术分析的黏液表皮样癌报道病例以及不同的良性唾液腺肿瘤,如多形性腺瘤和沃辛瘤,证实了核型以相互易位为主。两个细胞系的染色体重排涉及四个染色体带:1q32、5p15、7q22和15q22。荧光原位杂交研究表明,这四个带中的断点通常彼此相距几个兆碱基。这两个细胞系中相似染色体带参与断点提示这些区域可能在这种肿瘤类型中易发生或被选择发生染色体重排。良性和恶性唾液腺肿瘤中均存在多个相互易位也可能提示黏液或浆液性腺体内介导染色体重排的特定机制。

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