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Small intestinal adenocarcinoma accompanied by lynch syndrome: A case report

RATIONALE: Lynch syndrome is caused by germline mutations of DNA mismatch repair genes. A significant risk increase for several types of cancer is one of the characteristics of lynch syndrome. PATIENT CONCERNS: A 45-year-old female presented to the emergency department with abdominal pain that had p...

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Detalles Bibliográficos
Autores principales: Yoon, Kyoung Won, Jo, Jaemin, Lee, Donghyoun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545008/
https://www.ncbi.nlm.nih.gov/pubmed/37773826
http://dx.doi.org/10.1097/MD.0000000000035323
Descripción
Sumario:RATIONALE: Lynch syndrome is caused by germline mutations of DNA mismatch repair genes. A significant risk increase for several types of cancer is one of the characteristics of lynch syndrome. PATIENT CONCERNS: A 45-year-old female presented to the emergency department with abdominal pain that had persisted for a month. DIAGNOSES: The abdominal and pelvic computed tomography scan showed edematous and thickening of the proximal small bowel wall, as well as dilatation of the proximal bowel and stomach. INTERVENTIONS: Tumor resection of the small bowel was performed, and adenocarcinoma was confirmed pathologically. Microsatellite instability was also confirmed. OUTCOMES: Postoperative imaging revealed soft tissue lesions with potential for tumor seeding. Two months after the first surgery, a secondary surgery was performed as a result of cancer recurrence. The patient received chemotherapy with capecitabine. The latest computed tomography scan, performed 19 months after the cessation of chemotherapy, did not show any recurrence. LESSONS: In the rare incidence of small bowel cancer genetic mutation testing and detailed family history should be actively considered.