Lynch syndrome in a 15-year-old boy

European Journal of Pediatrics
A BodasE Díaz-Rubio

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, dominantly inherited, is characterized by the development of a variety of cancers due to germline mutations in DNA mismatch repair genes (MMR). This syndrome was diagnosed in a 15-year-old boy because his father and grandmother were also found to have the same kind of cancer. Microsatellite instability prompted a search for germline mutations in the MLH1, MSH2, MSH6, and PMS2 genes. Use of immunohistochemical staining for MMR proteins, genomic sequencing, and deletion studies, evidenced MSH2 axonal deletion. Neoplastic lesions of colon are most often encountered in the adult population but can, on rare occasions, be found in younger patients. We would like to emphasize the importance of suspecting Lynch syndrome and performing genetic studies, even in young patients, when there is a family history of colorectal cancer.

References

Jul 17, 1997·International Journal of Cancer. Journal International Du Cancer·D W VoskuilP van't Veer
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Apr 28, 2005·JAMA : the Journal of the American Medical Association·Virgínia PiñolUNKNOWN Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
May 6, 2005·The New England Journal of Medicine·Heather HampelAlbert de la Chapelle
Mar 1, 2007·Journal of Medical Genetics·H F A VasenJ Wijnen

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Citations

Feb 24, 2016·Journal of Pediatric Surgery·John A SandovalAlpin D Malkan
May 13, 2015·Familial Cancer·John A HeathAung Ko Win
Feb 20, 2016·Korean journal of pediatrics·Do Hee AhnIn-Sang Jeon
Nov 6, 2012·European Child & Adolescent Psychiatry·Carl-Magnus Forslund, Björn Axel Johansson
Sep 21, 2013·Journal of Pediatric Gastroenterology and Nutrition·Sherry C HuangSteven H Erdman
Aug 4, 2021·Cancer Genetics·Chelsea SelfLindsey Hoffman

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