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Case report
Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a de novo MSH2 mutation
  1. Kristin Zajo1,
  2. Susan I Colace1,2,
  3. Danielle Mouhlas3 and
  4. Steven H Erdman2,4
  1. 1Hematology/Oncology/BMT, Nationwide Children's Hospital, Columbus, Ohio, USA
  2. 2Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA
  3. 3Clinical Laboratory, Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA
  4. 4Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital, Columbus, Ohio, USA
  1. Correspondence to Dr Steven H Erdman; steven.erdman{at}


The diagnosis of paediatric colorectal cancer is an unusual finding often diagnosed at an advanced stage with associated poor survival. Paediatric colorectal cancer warrants investigation for hereditary cancer predisposition syndromes, including Lynch syndrome. Here we describe a 16-year-old girl who presented with a stage IIA mucinous adenocarcinoma of the descending colon (T3 N0 M0) treated by resection alone that was associated with a pathogenic germline mutation of MSH2 (c.1786_1788delAAT (p.Asn596del)). This previously described mutation was not found in either parent or her three siblings. To our knowledge, this is the earliest reported case of paediatric Lynch syndrome-associated colorectal cancer by de novo mutation of MSH2. This case illustrates that although Lynch syndrome is typically described as an adult-onset cancer syndrome, Lynch syndrome-associated colorectal cancer can be found in children and adolescents. Genetic testing should be considered as a part of the initial evaluation in these patients.

  • genetics
  • colon cancer
  • paediatric oncology

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  • Contributors KZ, SIC, DM and SHE were involved in the clinical management and genetic testing of the patient/family. KZ and SHE conceptualised and wrote first draft and revisions of the manuscript. KZ, SIC, DM and SHE performed review of the literature, edited and revised the manuscript. DM organised and completed in house genetic analysis confirming maternity/paternity.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.