講演情報
[E6-1]"Newly Diagnosed Familial Adenomatous Polyposis Without Family History: A Case Report"
Tolkhiinjan Dostikh (Mungunguur hospital)
Background: Familial adenomatous polyposis (FAP) is a genetic disorder caused by mutations in the APC gene, typically leading to the development of numerous adenomatous polyps in the colon. This disease is often inherited in an autosomal dominant pattern but can also occur as a de novo mutation in the absence of family history. This case report presents a rare instance of sporadic FAP leading to advanced colorectal cancer.
Methods: A 36-year-old female with no family history of FAP presented with symptoms of abdominal distension, constipation, and nausea. Imaging studies, including CT and colonoscopy, revealed multiple polyps and signs of colorectal malignancy. Histopathological examination confirmed the diagnosis of adenocarcinoma.
Results: The patient underwent total colectomy and rectal excision, with post-operative recovery proceeding without complications. The histopathological findings confirmed adenocarcinoma in both the colon and rectum. The patient is currently undergoing chemotherapy and is being closely monitored for further complications.
Conclusion: This case highlights the importance of considering FAP even in the absence of a family history. Early diagnosis and surgical intervention are crucial to prevent colorectal cancer. Long-term surveillance is recommended to monitor for potential desmoid tumors and other associated malignancies.
Methods: A 36-year-old female with no family history of FAP presented with symptoms of abdominal distension, constipation, and nausea. Imaging studies, including CT and colonoscopy, revealed multiple polyps and signs of colorectal malignancy. Histopathological examination confirmed the diagnosis of adenocarcinoma.
Results: The patient underwent total colectomy and rectal excision, with post-operative recovery proceeding without complications. The histopathological findings confirmed adenocarcinoma in both the colon and rectum. The patient is currently undergoing chemotherapy and is being closely monitored for further complications.
Conclusion: This case highlights the importance of considering FAP even in the absence of a family history. Early diagnosis and surgical intervention are crucial to prevent colorectal cancer. Long-term surveillance is recommended to monitor for potential desmoid tumors and other associated malignancies.