• Xiaoqiang Gu, Xin Li, Jiahua Xu, Jinzu Yang, Hongwei Li, Qing Wu, and Jianxin Qian.
• Department of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (TCM), Shanghai, China.
• Medicine (Baltimore). 2021 Apr 2; 100 (13): e25247e25247.

RationaleGardner 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.Patient ConcernsA 22-year-old Chinese female was admitted to our hospital due to abdominal pain and bloody stool.DiagnosisThe patient presented with multiple intestinal polyposis, desmoid tumors, and dental abnormalities was diagnosed as Gardner syndrome and further examination revealed a colon tumor.Interventions And OutcomesPatients 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.LessonsWe reported serial mutations in key genes responsible for initiation and progression of colorectal cancer from a patient with Gardner syndrome.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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