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Synchronous multiple primary gastrointestinal cancers with CDH1 mutations: A case report
Mu-Ni Hu1, Wei Lv1, Rui-Yue Hu2
1Medical College, Nanchang University, Nanchang 330006, Jiangxi Province, China.
World Journal of Clinical Cases
|August 2, 2019
Summary
CDH1 gene mutations are linked to synchronous multiple primary gastrointestinal cancers. This suggests CDH1 mutations and WNT/β-catenin pathway activation drive cancer development.
Area of Science:
- Oncology
- Gastroenterology
- Genetics
Background:
- Synchronous multiple primary cancers (SMPC) involve multiple distinct tumors occurring concurrently.
- Gene variations are implicated in SMPC development, but CDH1 mutations' role in gastrointestinal SMPC remains unclear.
Observation:
- A 62-year-old woman presented with abdominal pain and was diagnosed with signet ring cell carcinoma in both the stomach and colorectum.
- Pathology revealed E-cadherin deficiency and nuclear/cytoplasmic β-catenin accumulation.
- Genetic analysis identified two specific CDH1 mutations (C.57T>G and C.1418A>T) in the tumor tissue.
Findings:
- The study identified coincident CDH1 mutations in a patient with synchronous multiple primary gastrointestinal cancers.
- These mutations were associated with E-cadherin loss and aberrant WNT/β-catenin signaling.
Implications:
- CDH1 mutations and WNT/β-catenin pathway activation may be key factors in the carcinogenesis of gastrointestinal SMPC.
- This finding could inform future research into the genetic basis and targeted therapies for SMPC.
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