一名患有黑斑息肉综合征并伴有早期胃癌的患者中LKB1基因的一种新型种系突变。

A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer.

作者信息

Takahashi Masanobu, Sakayori Masato, Takahashi Shin, Kato Taku, Kaji Mitsuji, Kawahara Masanori, Suzuki Takao, Kato Satoshi, Kato Shunsuke, Shibata Hiroyuki, Murakawa Yasuko, Yoshioka Takashi, Ishioka Chikashi

机构信息

Department of Clinical Oncology, Institute of Development, Aging and Cancer, and Tohoku University Hospital, Tohoku University, 4-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.

出版信息

J Gastroenterol. 2004 Dec;39(12):1210-4. doi: 10.1007/s00535-004-1474-y.

DOI:10.1007/s00535-004-1474-y

PMID:15622488

Abstract

The gene responsible for Peutz-Jeghers syndrome (PJS), LKB1 (also called STK11) was mapped to chromosome 19p13.3 and was found to encode a putative serine/threonine protein kinase, LKB1. As only a limited number (approximately 100) of germline mutations of the gene have been reported, and because the protein function is still unclear, information about LKB1 mutations and their expression should be accumulated to understand the phenotype-genotype correlation of this disease. Here we report a patient with sporadic PJS with early-onset gastric cancer. We found a novel germline frameshift mutation (757-758insT) in the LKB1 gene and a marked reduction in LKB1 protein expression in the carcinoma cells, suggesting that the loss of LKB1 function may have led to the carcinogenesis of the gastric cancer.

摘要

导致黑斑息肉综合征（PJS）的基因LKB1（也称为STK11）被定位到19号染色体短臂1区3带，并被发现编码一种假定的丝氨酸/苏氨酸蛋白激酶LKB1。由于该基因的种系突变仅报道了有限数量（约100个），且蛋白质功能仍不清楚，因此应积累有关LKB1突变及其表达的信息，以了解该疾病的表型-基因型相关性。在此，我们报告一名患有散发性PJS并伴有早发性胃癌的患者。我们在LKB1基因中发现了一个新的种系移码突变（757-758insT），并且癌细胞中LKB1蛋白表达显著降低，这表明LKB1功能丧失可能导致了胃癌的发生。