BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis ...BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutations and synchronous multiple primary gastrointestinal cancers is largely unknown. CASE SUMMARY A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in CDH1, C.57T>G and C.1418A>T. CONCLUSION This case suggests that the combination of CDH1 mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.展开更多
基金Supported by the National Science Foundation of China,Nos.81770624 and 81860490Foundation of Jiangxi Educational Committee,No.GJJ160048Foundation of Health and Family Planning Commission of Jiangxi Province,No.20171098
文摘BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutations and synchronous multiple primary gastrointestinal cancers is largely unknown. CASE SUMMARY A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in CDH1, C.57T>G and C.1418A>T. CONCLUSION This case suggests that the combination of CDH1 mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.
