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Updated: Mar 6, 2026

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis
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Published on: June 19, 2018

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A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

William Rengifo-Cam1, Kory Jasperson2, Ignacio Garrido-Laguna3

  • 1Division of Gastroenterology and Hepatology, University of Texas Southwestern, Dallas, TX; Cancer Genetics Department, Jupiter Medical Center, Jupiter, FL.

ACG Case Reports Journal
|March 14, 2017
PubMed

Insights

Constitutional mismatch repair deficiency (CMMRD) is a rare genetic syndrome causing cancer predisposition. Early recognition is crucial for managing patients with early-onset colorectal and brain cancers.

Area of Science:

  • Oncology
  • Genetics
  • Cancer Predisposition Syndromes

Background:

  • Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disorder.
  • CMMRD is associated with a high lifetime risk of various cancers, including colorectal and brain tumors.
  • Limited understanding of clinical manifestations and screening strategies hinders early diagnosis and management.

Observation:

  • This report details a case of CMMRD presenting with metachronous colorectal and brain cancers.
  • The patient exhibited symptoms indicative of rare early-onset malignancies.
  • The presentation highlights the aggressive nature of CMMRD-associated cancers.

Findings:

  • The case underscores the importance of considering CMMRD in individuals with multiple early-onset cancers.
  • Metachronous colorectal and brain cancers occurred in the context of undiagnosed CMMRD.
  • Genetic screening for mismatch repair gene mutations is essential for confirming CMMRD.

Implications:

  • Oncologists and gastroenterologists must maintain a high index of suspicion for CMMRD in young patients with colorectal cancer.
  • Awareness of CMMRD can lead to earlier diagnosis, genetic counseling, and tailored cancer surveillance.
  • Improved understanding of CMMRD is needed to develop effective prevention and treatment strategies for this devastating syndrome.

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