Kuroda Naoto, Alvarado-Cabrero Isabel, Sima Radek, Hes Ondrej, Michal Michal, Kinoshita Hidefumi, Matsuda Tadashi, Ohe Chisato, Sakaida Noriko, Uemura Yoshiko, Lee Gang-Hong
Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi 780-8562, Japan.
Oncol Lett. 2010 Jan;1(1):87-90. doi: 10.3892/ol_00000015. Epub 2010 Jan 1.
Few genetic studies of renal carcinoid tumor have been conducted thus far. We performed immunohistochemical and genetic examinations on four renal carcinoid tumors. Histologically, the tumors consisted of neoplastic cells with round to oval nuclei. Various growth patterns such as tightly packed cords and trabeculae, ribbon-like, trabecular, sheet-like or solid growth were observed. Nuclear chromatin showed a coarse and granular pattern. Immunohistochemically, tumors were positive for chromogranin A and synaptophysin. In the fluorescence in situ hybridization study, three of four tumors revealed monosomy of chromosome 3 (D3Z1), but one tumor showed monosomy of chromosome 13 (D13S319/13q34). Using PCR amplification and fragment analysis of three microsatellite markers (D3S1300, D3S666 and D3S1768) of chromosome arm 3p, one tumor showed loss of heterozygosity at D3S1300 and D3S1768, one tumor was not informative and the analysis of two tumors failed due to low DNA quality. In three cases, the VHL gene status was tested. Two tumors showed wild-type, but the analysis of one tumor failed to provide adequate results. In conclusion, we suggest that the abnormality of chromosome 3 is involved in the pathogenesis of renal carcinoid tumor.
迄今为止，针对肾类癌肿瘤的遗传学研究很少。我们对4例肾类癌肿瘤进行了免疫组织化学和遗传学检查。组织学上，肿瘤由核呈圆形至椭圆形的肿瘤细胞组成。观察到多种生长模式，如紧密排列的条索状和小梁状、带状、小梁状、片状或实性生长。核染色质呈粗糙颗粒状。免疫组织化学检查显示，肿瘤嗜铬粒蛋白A和突触素呈阳性。在荧光原位杂交研究中，4例肿瘤中有3例显示3号染色体单体性（D3Z1），但1例肿瘤显示13号染色体单体性（D13S319/13q34）。使用3号染色体短臂的3个微卫星标记（D3S1300、D3S666和D3S1768）进行PCR扩增和片段分析，1例肿瘤在D3S1300和D3S1768处显示杂合性缺失，1例肿瘤结果无信息价值，2例肿瘤因DNA质量低未能进行分析。3例检测了VHL基因状态。2例肿瘤显示野生型，但1例肿瘤的分析未能得出充分结果。总之，我们认为3号染色体异常参与了肾类癌肿瘤的发病机制。
