Korean J Pediatr.  2016 Jan;59(1):40-42. 10.3345/kjp.2016.59.1.40.

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome

Affiliations
  • 1Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea. isjeon@gilhospital.com

Abstract

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

Keyword

Lynch syndrome; Mismatched repair genes; Colorectal neoplasms
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