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Lynch syndrome: a pediatric perspective.

Sherry C Huang¹, Carol A Durno, Steven H Erdman

¹*Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, University of California, San Diego †Department of Pediatrics, Division of Gastroenterology/Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Canada ‡Division of Gastroenterology, Hepatology, and Nutrition, Nationwide Children's Hospital, Columbus, OH.

Journal of Pediatric Gastroenterology and Nutrition

|September 21, 2013

Summary

Pediatric colorectal cancer often indicates genetic predisposition, commonly Lynch syndrome (LS) due to DNA mismatch repair (MMR) gene mutations. Early genetic testing and surveillance are crucial for managing LS and related cancers in children and families.

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Area of Science:

Oncology
Genetics
Pediatrics

Background:

Colorectal cancer is rare in children, often signaling a genetic predisposition.
Lynch syndrome (LS), a common hereditary colon cancer susceptibility, involves germline mutations in DNA mismatch repair (MMR) genes.
LS is linked to various cancers, including gastrointestinal and endometrial, affecting both symptomatic adolescents and asymptomatic carriers.

Purpose of the Study:

To review the DNA mismatch repair (MMR) system and its role in pediatric Lynch syndrome (LS).
To discuss the newly identified constitutional mismatch repair deficiency syndrome (a biallelic MMR gene mutation form).
To highlight the importance of identifying patients for genetic testing and cancer surveillance programs.

Main Methods:

Review of the DNA mismatch repair (MMR) system and its associated genetic syndromes.
Analysis of pediatric cases of Lynch syndrome (LS) and constitutional mismatch repair deficiency syndrome.
Evaluation of family history and tumor characteristics for identifying at-risk patients.

Main Results:

Germline mutations in MLH1, MSH2, MSH6, or PMS2 genes cause Lynch syndrome (LS).
Constitutional mismatch repair deficiency syndrome involves biallelic MMR gene mutations.
Family history and tumor traits aid in identifying individuals for genetic testing.

Conclusions:

Genetic testing for MMR gene mutations is recommended for pediatric patients with suspected hereditary cancer syndromes.
Cancer surveillance programs are vital for individuals with LS or constitutional mismatch repair deficiency syndrome to manage risks.
Genetic counseling and testing are advised for all family members at risk due to the rarity of spontaneous MMR gene mutations.