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Related Experiment Videos

Double frameshift mutations in APC and MSH2 in the same individual.

Claudio Soravia1, Celia D DeLozier, Zurana Dobbie

  • 1Clinic of Visceral Surgery, Geneva University Hospital, Geneva, Switzerland. csoravia@hin.ch

International Journal of Colorectal Disease
|April 19, 2005
PubMed
Summary

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This case study highlights a novel MSH2 mutation causing Lynch syndrome (HNPCC) in a patient with familial adenomatous polyposis, leading to adenocarcinoma and desmoid tumors.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is typically linked to germline mutations in DNA mismatch repair genes.
  • Familial adenomatous polyposis (FAP) is characterized by numerous adenomatous polyps and is associated with APC gene mutations.

Observation:

  • A proband presented with fewer than ten polyps, atypical for FAP, prompting consideration of HNPCC.
  • Microsatellite instability analysis of tumor tissue revealed high-grade instability, and immunohistochemistry showed absent MSH2 and MSH6 protein expression.
  • The patient underwent prophylactic colectomy, revealing a pT1N0 adenocarcinoma within an adenoma.

Findings:

  • Genomic DNA analysis identified a novel frameshift mutation in MSH2 (c.1,191_1,192dupG) in the proband.

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  • The proband inherited the MSH2 mutation from his mother and an APC mutation (del3471-3473GAGA) from his father.
  • Follow-up revealed multiple adenomas in the stomach, duodenum, and rectum, and the development of an intra-abdominal desmoid tumor.

    • Implications:

    • This case underscores the importance of considering Lynch syndrome in individuals with atypical polyp burden and a family history of polyposis syndromes.
    • The co-occurrence of MSH2 and APC mutations highlights complex genetic interactions in colorectal cancer predisposition.
    • Early diagnosis and management are crucial for patients with Lynch syndrome and FAP, given the risk of multiple adenomas and extracolonic manifestations like desmoid tumors.