Zhang Xi-Wen, Jia Zan-Hui, Zhao Li-Ping, Wu Yi-Shi, Cui Man-Hua, Jia Yan, Xu Tian-Min
Department of Gynecology, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China.
World J Clin Cases. 2022 Jul 16;10(20):7105-7115. doi: 10.12998/wjcc.v10.i20.7105.
Lynch syndrome (LS) is an autosomal dominant hereditary disorder because of germline mutations in DNA mismatch repair genes, such as MutL homolog 1 (), PMS1 homolog 2, MutS homolog 2, and MutS homolog 6. Gene mutations could make individuals and their families more susceptible to experiencing various malignant tumors. In Chinese, germline mutation c.(453+1_454-1)_(545+1_546-1)del-related LS has been infrequently reported. Therefore, we report a rare LS patient with colorectal and endometrioid adenocarcinoma and describe her pedigree characteristics.
A 57-year-old female patient complained of irregular postmenopausal vaginal bleeding for 6 mo. She was diagnosed with LS, colonic malignancy, endometrioid adenocarcinoma, secondary fallopian tube malignancy, and intermyometrial leiomyomas. Then, she was treated by abdominal hysterectomy, bilateral oviduct oophorectomy, and sentinel lymph node resection. Genetic testing was performed using next-generation sequencing technology to detect the causative genetic mutations. Moreover, all her family members were offered a free genetic test, but no one accepted it.
No tumor relapse or metastasis was found in the patient during the 30-mo follow-up period. The genetic panel sequencing showed a novel pathogenic germline mutation in , c.(453+1_454-1)_(545+1_546-1)del, for LS. Moreover, cancer genetic counseling and testing are still in the initial development state in China, and maybe face numerous challenges in the further.
林奇综合征（LS）是一种常染色体显性遗传性疾病，由DNA错配修复基因的种系突变引起，如MutL同源蛋白1（）、PMS1同源蛋白2、MutS同源蛋白2和MutS同源蛋白6。基因突变会使个体及其家族更容易患各种恶性肿瘤。在中国，种系突变c.（453 + 1_454 - 1）_（545 + 1_546 - 1）缺失相关的LS鲜有报道。因此，我们报告了一名罕见的患有结直肠癌和子宫内膜样腺癌的LS患者，并描述了其家系特征。
一名57岁女性患者主诉绝经后阴道不规则出血6个月。她被诊断为LS、结肠恶性肿瘤、子宫内膜样腺癌、继发性输卵管恶性肿瘤和肌壁间平滑肌瘤。随后，她接受了腹式子宫切除术、双侧输卵管卵巢切除术和前哨淋巴结切除术。使用下一代测序技术进行基因检测以检测致病基因突变。此外，为她所有的家庭成员提供了免费基因检测，但没有人接受。
在30个月的随访期内，患者未发现肿瘤复发或转移。基因检测面板测序显示了一种新的致病种系突变，即c.（453 + 1_454 - 1）_（545 + 1_546 - 1）缺失，导致LS。此外，癌症遗传咨询和检测在中国仍处于初步发展阶段，未来可能面临诸多挑战。
