Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps and characteristic mucocutaneous freckling. PJS is an autosomal prevailing disease, due to genetic mutation on chromosome 19p, manifested by restricted mucocutaneous melanosis in association with gastrointestinal (GI) polyposis. The gene for PJS has recently been shown to be a serine/threonine kinase, known as LKB1 or STK11, which maps to chromosome subband 19p13.3. This gene has a putative coding region of 1302 bp, divided into nine exons, and acts as a tumor suppressor in the hamartomatous polyps of PJS patients and in the other neoplasms that develop in PJS patients. It is probable that these neoplasms develop from hamartomas, but it remains possible that the LKB1 or STK11 locus plays a role in a different genetic pathway of tumor growth in the cancers of PJS patients. This article focuses on the role of LKB1 or STK11 gene expression in PJS and related cancers.

中文翻译：

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丝氨酸/苏氨酸激酶11（STK11）或肝激酶B1（LKB1）基因在Peutz-Jeghers综合征中的作用。

Peutz-Jeghers综合征（PJS）是一种被广泛描述的遗传综合征，其特征是胃肠息肉的发展和粘膜皮肤雀斑的特征。PJS是一种常染色体遗传性疾病，原因是19p号染色体上发生了基因突变，表现为限制性的皮肤粘膜黑素病和胃肠道（GI）息肉病。最近已证明PJS的基因是一种丝氨酸/苏氨酸激酶，称为LKB1或STK11，可映射到19p13.3染色体子带。该基因具有一个1302 bp的假定编码区，分为9个外显子，在PJS患者的错构瘤息肉和PJS患者的其他肿瘤中起抑癌作用。这些肿瘤很可能是由错构瘤形成的，但LKB1或STK11基因座仍可能在PJS患者癌症的不同肿瘤生长遗传途径中起作用。本文重点介绍LKB1或STK11基因表达在PJS和相关癌症中的作用。