A Case Report of Lynch-Like Syndrome Diagnosed due to Intussusception Treated with Laparoscopic Colectomy
Received Date: Apr 02, 2024 / Published Date: May 03, 2024
Abstract
Background: Lynch syndrome, caused by germline mutations in mismatch repair proteins, can cause early onset of colorectal cancer. Lynch-like syndrome was recently defined as a third type of microsatellite instability tumor differ to Lynch syndrome and sporadic MSI colorectal cancer without either a germline variant of mismatch repair genes or hypermethylation of the MLH1 gene. Here, we report a rare case of Lynch-like syndrome diagnosed due to intussusception.
Case presentation: A 28-year-old man presented with right lower abdominal pain for approximately 3 months and had defecated black stool for several weeks. Computed tomography revealed a contrast-enhanced tumor and lymph nodes with a crab-claw-like image extending into the ascending colon. Colonoscopy revealed a large submucosal tumor-like lesion with ulceration. Laparoscopy-assisted ileocecal resection with level three lymph node dissections was performed 3 days after endoscopic reduction of the intussusception. Histological diagnosis was poorly differentiated adenocarcinoma with mucus-producing component. Immunohistochemistry demonstrated no MutL Homolog 1 (MLH1) or Postmeiotic Segregation Increased 2 (PMS2) expression in the tumor. Genetic analysis revealed high microsatellite instability, and no BRAF mutations, no MLH1 promoter methylation, and no MLH1 epimutation was found. Although these findings suggested Lynch syndrome, further genetic analysis revealed no pathological mutations of MLH1 and PMS2 in germline and somatic DNA and RNA. Together these findings, the patient was thought as Lynch-like syndrome. A novel outstanding mechanism may have caused defective mismatch repair in the tissue of this young patient, which should be studied in the future.
Conclusion: We encountered a rare case of Lynch-like syndrome in which the diagnosis was due to intussusception. There might be a novel outstanding mechanism resulting in dMMR in the tissue of such a young patient.
Keywords: Case report; Lynch syndrome; Microsatellite instability; Juvenile colon cancer; Intussusception
Citation: Ogata R, Hazama S, Fujii T, Hino K, Tsunedomi R, et al. (2024) A Case Report of Lynch-Like Syndrome Diagnosed due to Intussusception Treated with Laparoscopic Colectomy. Diagnos Pathol Open 9: 230. Doi: 10.4172/2476-2024.9.2.230
Copyright: © 2024 Ogata R, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Share This Article
黑料网 Journals
Article Tools
Article Usage
- Total views: 390
- [From(publication date): 0-2024 - Feb 04, 2025]
- Breakdown by view type
- HTML page views: 346
- PDF downloads: 44
