Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome

  • Ahn, Do Hee (Department of Pediatrics Graduate School of Medicine, Gachon University) ;
  • Rho, Jung Hee (Department of Pediatrics Graduate School of Medicine, Gachon University) ;
  • Tchah, Hann (Department of Pediatrics Graduate School of Medicine, Gachon University) ;
  • Jeon, In-Sang (Department of Pediatrics Graduate School of Medicine, Gachon University)
  • Received : 2014.10.24
  • Accepted : 2014.05.21
  • Published : 2016.01.10
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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.

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References

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