Maru Dipen, Wu Tsung-Teh, Canada Amanda, Houlihan Patrick S, Hamilton Stanley R, Rashid Asif
Department of Pathology, the University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA.
Oncogene. 2004 Jan 22;23(3):859-64. doi: 10.1038/sj.onc.1207194.
Appendiceal adenocarcinomas are uncommon, and the genetic alterations present in these tumors are not well characterized. We studied genetic alterations including loss of chromosome 18q (location of DCC, DPC4, and JV-18 genes), and mutations of the DPC4 (SMAD4) and beta-catenin genes in 28 appendiceal adenocarcinomas, consisting of 17 mucinous and 11 nonmucinous carcinomas. Chromosome 18q loss was present in 57% (12/21) of appendiceal carcinomas including 54% (7/13) of mucinous and 63% (5/8) of nonmucinous carcinomas. Mutation of the DPC4 gene was present in 14% (three of 22) of the carcinomas occurring in one tumor with chromosome 18q loss and in two with unassessed chromosome 18q status. beta-catenin gene mutation was present in 0% (0 of 25) of the carcinomas. Chromosome 18q loss status was not associated with any clinicopathological features. The presence of chromosome 18q loss and DPC4 mutations in appendiceal adenocarcinomas suggests involvement of DPC4 and nearby genes on chromosome 18q (DCC and/or JV-18) in the pathogenesis of appendiceal adenocarcinomas.
阑尾腺癌并不常见，这些肿瘤中存在的基因改变尚未得到充分表征。我们研究了28例阑尾腺癌中的基因改变，包括18号染色体长臂缺失（DCC、DPC4和JV-18基因所在位置），以及DPC4（SMAD4）和β-连环蛋白基因的突变，其中包括17例黏液性癌和11例非黏液性癌。18号染色体长臂缺失存在于57%（12/21）的阑尾癌中，包括54%（7/13）的黏液性癌和63%（5/8）的非黏液性癌。DPC4基因突变存在于14%（22例中的3例）的癌中，其中1例肿瘤存在18号染色体长臂缺失，2例18号染色体长臂状态未评估。β-连环蛋白基因突变存在于0%（25例中的0例）的癌中。18号染色体长臂缺失状态与任何临床病理特征均无关联。阑尾腺癌中18号染色体长臂缺失和DPC4突变的存在提示DPC4及18号染色体长臂上的附近基因（DCC和/或JV-18）参与了阑尾腺癌的发病机制。
