von Herbay A, Arens N, Friedl W, Vogt-Moykopf I, Kayser K, Müller K M, Back W
Institute of Pathology, University of Heidelberg, Heidelberg, Germany.
Lung Cancer. 2005 Feb;47(2):283-8. doi: 10.1016/j.lungcan.2004.06.015.
Besides gastrointestinal hamartomatous polyposis and melanin spots in the skin and mucosa, patients with the Peutz-Jeghers syndrome (PJS) have repeatedly been observed with a variety of tumours, including lung cancer. Available data indicate an increased cancer risk among PJS patients, which suggests that the gene involved in PJS, STK11 on chromosome 19p13.3, may be a tumour suppressor gene. Herein, bronchioloalveolar carcinoma (BAC) of mucinous type is reported in a 22-year old male PJS patient with a novel germline frameshift insertion in exon 2 at codon 118 of the STK11 gene. Molecular studies of his BAC indicated loss of heterozygosity (LOH) in the region of STK11 on chromosome 19p13.3. This observation supports the hypothesis that STK11 is a tumour suppressor gene which is involved in the development of lung adenocarcinoma.
除了胃肠道错构瘤性息肉病以及皮肤和黏膜的黑色素斑外，还反复观察到佩-吉二氏综合征（PJS）患者患有包括肺癌在内的多种肿瘤。现有数据表明PJS患者的癌症风险增加，这表明与PJS相关的位于19号染色体p13.3上的基因STK11可能是一种肿瘤抑制基因。在此报告一名22岁男性PJS患者发生黏液型细支气管肺泡癌（BAC），其STK11基因第2外显子第118密码子处有一个新的种系移码插入。对其BAC的分子研究表明在19号染色体p13.3上的STK11区域存在杂合性缺失（LOH）。这一观察结果支持了STK11是参与肺腺癌发生的肿瘤抑制基因这一假说。
