Pediatric manifestations of Lynch Syndrome: A single center experience

Taleen A. MacArthur, Laura J. Ongie, Brendan C. Lanpher, Michael B. Ishitani

Research output: Contribution to journalArticlepeer-review


Lynch syndrome is an autosomal dominant condition caused by a heterozygous variation in one of the DNA mismatch repair (MMR) genes that pre-disposes individuals to early onset colorectal cancers and other malignancies. Lynch syndrome is generally considered an adult-onset disorder, with malignancy rarely manifesting in childhood. Colorectal cancer is extremely rare in children, but hereditary syndromes including Lynch syndrome are an important cause. We aimed to assess the frequency and clinical course of children with Lynch syndrome associated pediatric colorectal cancers at our institution over the last 20 years. In this retrospective study, we describe four cases of children with Lynch syndrome-associated colorectal cancers age 14–17 years at diagnosis. All patients were diagnosed with Lynch syndrome after diagnosis, despite three of them having family histories consistent with Lynch syndrome. This series highlights a rare but important cause of pediatric malignancy and points to the need for early education on colorectal cancer warning symptoms and open discussion about this condition in affected families. It also illustrates the need for a thorough family history and a high level of suspicion for Lynch syndrome in children based on family background, as early detection may be key to improving cancer outcomes.

Original languageEnglish (US)
Article number102431
JournalJournal of Pediatric Surgery Case Reports
StatePublished - Nov 2022


  • Cancer
  • Colorectal
  • Genetics
  • Lynch syndrome
  • Pediatric
  • Surgery

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery


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