Gastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguay.
PLoS One. 2013 Nov 19;8(11):e79639. doi: 10.1371/journal.pone.0079639. eCollection 2013.
Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients.
Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed.
25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000.
The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation.
Peutz-Jeghers 综合征（PJS）的特征为肠道息肉、黏膜皮肤色素沉着和癌症风险增加，通常由 STK11 基因突变引起。本研究收集了所有乌拉圭 PJS 患者的流行病学、临床和遗传数据。
从公立和私立医疗中心获取临床数据，并每年更新。对每个家族的一名成员进行 STK11 基因测序。
在 11 个无血缘关系的家族中登记了 25 例（男性 15 例，女性 10 例）。诊断和死亡的平均年龄分别为 18 岁和 41 岁。所有患者均有特征性的 PJS 色素沉着和胃肠道息肉。由于肠梗阻，72%的患者需要紧急手术。3 个家族有多个癫痫发作病例，占 20%。28%的患者发生癌症，2 名患者有不止一种癌症。分析的 9 个家族中有 8 个发现 STK11 基因突变。在一个家族中发现了一个独特的 M136K 错义突变。比较 1970 年至 2009 年的每年活产数和 PJS 出生记录，发病率为每 155000 例活产 1 例。
乌拉圭 PJS 患者登记处显示出紧急手术、癫痫、癌症和预期寿命缩短的高几率。M136K 错义突变是新报道的 STK11 突变。
