Resta N, Simone C, Mareni C, Montera M, Gentile M, Susca F, Gristina R, Pozzi S, Bertario L, Bufo P, Carlomagno N, Ingrosso M, Rossini F P, Tenconi R, Guanti G
Dipartimento di Medicina Interna e del Lavoro, Sezione di Genetica Medica, Bari, Italy.
Cancer Res. 1998 Nov 1;58(21):4799-801.
A potential tumor suppressor gene, STK11 , encoding a serine threonine kinase, has recently been identified on chromosome 19p13. Germ-line mutations of this gene have been found in patients with Peutz-Jeghers syndrome (PJS). To further investigate the relevance of STK11 mutations in PJS, we analyzed its coding sequence in nine patients and identified two deletions and three missense mutations. Because intestinal carcinomas have been observed to develop in association with PJS, we analyzed tumors from 71 patients for allelic deletions (loss of heterozygosity) and STK11 gene mutations, to elucidate the etiological role of STK11 gene in sporadic colorectal cancer. Loss of heterozygosity, evaluated using the microsatellite D19S886, was observed in 10 of 52 informative cases. No somatic mutations were detected except for a missense alteration in one tumor. Our data indicate the heterogeneity of PJS and the infrequent involvement of the STK11 gene in colorectal cancer.
一个潜在的肿瘤抑制基因STK11，编码一种丝氨酸苏氨酸激酶，最近在19号染色体p13上被鉴定出来。该基因的种系突变已在黑斑息肉综合征（PJS）患者中被发现。为了进一步研究STK11突变在PJS中的相关性，我们分析了9例患者的编码序列，鉴定出2个缺失和3个错义突变。由于已观察到与PJS相关的肠道癌的发生，我们分析了71例患者肿瘤中的等位基因缺失（杂合性缺失）和STK11基因突变，以阐明STK11基因在散发性结直肠癌中的病因学作用。使用微卫星D19S886评估杂合性缺失，在52例信息性病例中有10例观察到。除了一个肿瘤中的一个错义改变外，未检测到体细胞突变。我们的数据表明PJS的异质性以及STK11基因在结直肠癌中的罕见参与。
