Tian Ling-Lin, Guo Jun-Zhi, Yin Yun-Qin, Dang Xiao-Hong, Huo Li-Juan
Department of Gastroenterology, First Hospital of Shanxi Medical University, Taiyuan 030001, China.
Transl Cancer Res. 2020 Apr;9(4):3007-3011. doi: 10.21037/tcr.2020.02.64.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterised by gastrointestinal (GI) hamartomatous polyposis and mucocutaneous pigmentations. PJS is associated with an increased cancer risk, including GI and various extra-GI malignancies. In this study, we tracked this family for 8 years, and analyzed the clinical data of the PJS pedigree including two generations. In our research, the studied family members, including the proband, older daughter and younger daughter, all detected to have three heterozygous mutations in the gene that were inherited from the proband. The existed three mutant spots included exon 5 (GTG>ATG, Val292Met), exon 2 (CGC>CAC, Arg67His) and exon 18 (CGC>TGC, Arg982Cys) in RET. Our study provides an observation of the genetic heterogeneity of PJS. This pedigree investigation showed that it is critical to establish a long-term follow-up system for PJS patients and their families.
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传疾病，其特征为胃肠道（GI）错构瘤性息肉病和黏膜皮肤色素沉着。PJS与癌症风险增加有关，包括胃肠道和各种胃肠道外恶性肿瘤。在本研究中，我们对这个家族进行了8年的跟踪，并分析了包括两代人的PJS家系的临床数据。在我们的研究中，所研究的家庭成员，包括先证者、大女儿和小女儿，均检测到从先证者遗传而来的该基因中的三个杂合突变。存在的三个突变位点包括RET基因的外显子5（GTG>ATG，Val292Met）、外显子2（CGC>CAC，Arg67His）和外显子18（CGC>TGC，Arg982Cys）。我们的研究提供了对PJS基因异质性的观察。该家系调查表明，为PJS患者及其家族建立长期随访系统至关重要。
