Department of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (TCM), Shanghai, China.
Medicine (Baltimore). 2021 Apr 2;100(13):e25247. doi: 10.1097/MD.0000000000025247.
Gardner syndrome is a rare autosomal dominant disorder with a high degree of penetrance, which is characterized by intestinal polyposis, osteomas, and dental abnormalities. Majority of patients with Gardner syndrome will develop colorectal cancer by the age of 40 to 50 years. Mutations in the adenomatous polyposis coli gene are supposed to be responsible for the initiation of Gardner syndrome.
A 22-year-old Chinese female was admitted to our hospital due to abdominal pain and bloody stool.
The patient presented with multiple intestinal polyposis, desmoid tumors, and dental abnormalities was diagnosed as Gardner syndrome and further examination revealed a colon tumor.
Patients were implanted with stents to alleviate bowel obstruction, and were treated with oxaliplatin combined with 5-Fu for 4 cycles, but the efficacy was not good. We performed next generation sequencing of 390 genes for the tumor specimens. We detected adenomatous polyposis coli E1538Ifs∗5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs∗14, and SMAD4 p.L43F in this patient.
We reported serial mutations in key genes responsible for initiation and progression of colorectal cancer from a patient with Gardner syndrome.
Gardner 综合征是一种罕见的常染色体显性遗传病，具有高度外显率，其特征为肠息肉、骨瘤和牙齿异常。大多数 Gardner 综合征患者在 40 岁至 50 岁时会发展为结直肠癌。结直肠腺瘤性息肉病基因的突变被认为是 Gardner 综合征的起始原因。
一名 22 岁的中国女性因腹痛和便血就诊于我院。
该患者表现为多发性肠息肉、硬纤维瘤和牙齿异常，被诊断为 Gardner 综合征，进一步检查发现结肠肿瘤。
患者接受支架植入以缓解肠梗阻，并接受奥沙利铂联合 5-Fu 治疗 4 个周期，但疗效不佳。我们对肿瘤标本进行了 390 个基因的下一代测序。我们在该患者中检测到结直肠腺瘤性息肉病基因 E1538Ifs∗5、KRAS G12D、NF1 R652C、SMAD4 缺失、TP53 R175H、IRF2 p.R82S、TCF7L2 p.A418Tfs∗14 和 SMAD4 p.L43F 的突变。
我们报道了一例 Gardner 综合征患者中与结直肠癌发生和进展相关的关键基因的连续突变。
