Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome
| Autor: | Jiahua Xu, Jinzu Yang, Jianxin Qian, Xiaoqiang Gu, Qing Wu, Hongwei Li, Xin Li |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Abdominal pain Adenomatous polyposis coli Colorectal cancer genetic mutations medicine.disease_cause Gastroenterology Mutation Accumulation Young Adult 03 medical and health sciences 0302 clinical medicine colorectal carcinoma Gardner Syndrome Internal medicine medicine Humans Clinical Case Report 030212 general & internal medicine biology business.industry General Medicine medicine.disease Penetrance Oxaliplatin body regions Bowel obstruction 030220 oncology & carcinogenesis Disease Progression biology.protein Female KRAS medicine.symptom Colorectal Neoplasms business Research Article medicine.drug |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | Rationale: 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. Patient concerns: A 22-year-old Chinese female was admitted to our hospital due to abdominal pain and bloody stool. Diagnosis: The 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 outcomes: 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. Lessons: We reported serial mutations in key genes responsible for initiation and progression of colorectal cancer from a patient with Gardner syndrome. |
| Databáze: | OpenAIRE |
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