Shridhar R, Shridhar V, Rivard S, Siegfried J M, Pietraszkiewicz H, Ensley J, Pauley R, Grignon D, Sakr W, Miller O J, Smith D I
Department of Internal Medicine, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
Cancer Res. 1996 Dec 15;56(24):5576-8.
Arginine-rich protein (ARP) is a highly conserved gene that maps to human chromosomal band 3p21.1. This gene contains an imperfect trinucleotide repeat which encodes a string of arginines. We previously detected a specific mutation (ATG50-->AGG) within this region of the gene in 10 of 21 sporadic renal cell carcinomas. Here, we report the detection of the same mutation in 5 of 21 squamous cell carcinomas of the head and neck, 1 of 2 small cell lung cancer cell lines, 6 of 18 non-small cell lung carcinomas, 9 of 22 breast tumors, and 5 of 13 prostate tumors. This mutation was seen in several early stage tumors and may thus be an early event in tumorigenesis. We also detected a mutation at codon 53 of this gene in both primary and metastatic tumors from one patient. Other nucleotide changes were observed in a few PCR subclones, but their frequency was the same in both tumor and control samples, suggesting that many of these changes were PCR or subcloning artifacts rather than mutations in the tumor cells themselves.
富含精氨酸蛋白（ARP）是一个高度保守的基因，定位于人类染色体3p21.1带。该基因包含一个不完美的三核苷酸重复序列，编码一串精氨酸。我们之前在21例散发性肾细胞癌中的10例中检测到该基因这一区域内的一个特定突变（ATG50→AGG）。在此，我们报告在21例头颈部鳞状细胞癌中的5例、2个小细胞肺癌细胞系中的1个、18例非小细胞肺癌中的6例、22例乳腺肿瘤中的9例以及13例前列腺肿瘤中的5例中检测到相同突变。该突变在多个早期肿瘤中出现，因此可能是肿瘤发生过程中的一个早期事件。我们还在一名患者的原发性和转移性肿瘤中均检测到该基因第53位密码子的突变。在一些PCR亚克隆中观察到其他核苷酸变化，但它们在肿瘤样本和对照样本中的频率相同，这表明这些变化中的许多是PCR或亚克隆过程中的人为产物，而非肿瘤细胞本身的突变。
