PDF(Pubmed)
Abstract：
BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation.
OBJECTIVE: To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.
METHODS: A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared.
RESULTS: STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps.
CONCLUSIONS: PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
OBJECTIVE: To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.
METHODS: A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared.
RESULTS: STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps.
CONCLUSIONS: PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
摘要：
背景：Peutz-Jeghers综合征（PJS）是一种常染色体显性遗传性疾病，以皮肤粘膜色素斑和胃肠道（GI）多发性错构瘤息肉为临床特征。目前,认为STK11基因的种系突变是PJS的遗传原因。然而,并非所有PJS患者都能检测到STK11种系突变。这些没有STK11突变的PJS患者的具体临床特征是一个有趣的临床问题。或者，像野生型胃肠道间质瘤一样，这些没有STK11突变的PJS是否也称为PJS值得讨论。因此,本研究旨在了解这些无STK11突变的PJS患者的临床特征.
目的：调查具有已知STK11突变的PJS患者是否比没有的患者具有更严重的临床表型谱。
方法：随机选取空军医疗中心2010-2022年收治的92例PJS患者进行研究。从外周血样本中提取基因组DNA样本，通过高通量下一代基因测序检测STK11的致病种系突变。比较了有和没有STK11/LKB1突变的患者的临床病理表现。
结果：在73例PJS患者中观察到STK11种系突变。在19例未检测到STK11突变的患者中，六个没有其他基因的致病性种系突变，而13个有其他基因突变。与STK11突变的PJS患者相比，那些在初始治疗年龄没有年龄增长的人，首次肠套叠的年龄和初次手术的年龄。他们的肠套叠或肠梗阻住院总数也较低，和较低的小肠息肉负荷。
结论：没有STK11突变的PJS患者的临床病理表现可能比没有STK11突变的PJS患者严重。
目的：调查具有已知STK11突变的PJS患者是否比没有的患者具有更严重的临床表型谱。
方法：随机选取空军医疗中心2010-2022年收治的92例PJS患者进行研究。从外周血样本中提取基因组DNA样本，通过高通量下一代基因测序检测STK11的致病种系突变。比较了有和没有STK11/LKB1突变的患者的临床病理表现。
结果：在73例PJS患者中观察到STK11种系突变。在19例未检测到STK11突变的患者中，六个没有其他基因的致病性种系突变，而13个有其他基因突变。与STK11突变的PJS患者相比，那些在初始治疗年龄没有年龄增长的人，首次肠套叠的年龄和初次手术的年龄。他们的肠套叠或肠梗阻住院总数也较低，和较低的小肠息肉负荷。
结论：没有STK11突变的PJS患者的临床病理表现可能比没有STK11突变的PJS患者严重。
