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Muir Torre Syndrome ( A Variant of Lynch Syndrome) Case Report
  • Bukky F. Tabiti,
  • Alexander W. Worix,
  • Edem Agamah
Bukky F. Tabiti
Northwestern University Department of Medicine

Corresponding Author:[email protected]

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Alexander W. Worix
Northwestern University Department of Medicine
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Edem Agamah
Southern Illinois University School of Medicine
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Abstract

Lynch Syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant inherited disorder with high penetrance. Individuals are at an increased risk for early onset of colorectal cancer, usually in the proximal colon and other extracolonic cancers, which include endometrial, ovarian,stomach, pancreatic, and urinary tract cancers. LS is caused by a germline mutation in the DNA mismatch repair genes, which results in microsatellite instability. There are two known variants of Lynch Syndrome, Muir-Torre Syndrome (MTS) and Turcot Syndrome (TS). We report a 67 year old female patient who presented with abdominal pain. Initial thoughts were diverticulitis with abscess formation. However, this was proven to be carcinoma of the colon with perforation and abscess formation. A later colonoscopy would reveal another mass below the hepatic flexure in the ascending colon. She would then develop endometrial cancer and skin cancer (squamous cell and sebaceous carcinoma) . Genetic testing would reveal a MSH2 mutation, confirming the diagnosis of Lynch Syndrome. Her diagnosis of sebaceous carcinoma would classify her LS as the variant MTS. Our case demonstrates how a rare condition can present itself as a common symptom, and the importance of continuous monitoring of patients with LS, as atypical cancers for LS can be LS variants.
10 May 2024Submitted to Cancer Reports
08 Jun 2024Reviewer(s) Assigned
31 Oct 2024Review(s) Completed, Editorial Evaluation Pending
29 Nov 2024Editorial Decision: Revise Major