A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.

STK11 基因中的一个新的终止密码子突变与 Peutz - Jeghers 综合征和癌症风险升高相关 ： 一个案例研究。

• 发表时间: 2023
• 来源期刊: Gastroenterol Hepatol Bed Bench
• DOI: 10.22037/ghfbb.v16i2.2751
• PMID: 37767326
• 文章类型: Case Reports
• 作者列表: Khanabadi B,Najafgholizadeh Seyfi D,Rejali L,Taleghani MY,Tavallaei M,Shahrokh S,Daskar Abkenar E,Naderi Noukabadi F,Asadzadeh Aghdaei H,Nazemalhosseini Mojarad E

关键词: Genetic analysis; Novel mutation; Peutz-Jeghers syndrome (PJS); STK11gene; Sequencing

Abstract

Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps. The data released from the sequencing results revealed five alterations in exons 1 to 5. The major mutation in stop codon was reported as converted to the amino acid tryptophan (TRP) to tyrosine (TER). The TGG codon was converted to TAG by mutation. Finally, another novel mutation in STK11 stop codon as a \'de novo\' variant was seen. It is predicted that stop codon mutations make the affected person susceptible to developing colorectal cancer.

摘要

根据Peutz-Jeghers综合征（PJS）患者的分析，丝氨酸苏氨酸激酶11（STK11）是已知的肿瘤抑制基因，这与细胞极化有关，细胞凋亡的调节，和DNA损伤反应。在这个案例报告研究中，我们对一名42岁女性的STK11基因测序进行了检测,该女性患有黏囊性色素沉着和阳性家族史.内窥镜检查和结肠镜检查显示整个胃/结肠有>1000个息肉（PJ型错构瘤）。切除胃中较大的息肉，小肠成像检测到多个空肠/回肠小息肉。从测序结果释放的数据揭示外显子1至5中的5个改变。终止密码子中的主要突变被报道为从氨基酸色氨酸(TRP)转变为酪氨酸(TER)。通过突变将TGG密码子转化为TAG。最后,在STK11终止密码子中发现了另一个新的突变，作为“从头”变体。据预测,终止密码子突变使受影响的人易患结直肠癌。