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KMID : 1130320160590010040
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Korean Journal of Pediatrics
2016 Volume.59 No. 1 p.40 ~ p.42
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Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome
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Ahn Do-Hee
Rho Jung-Hee
Tchah Hann
Jeon In-Sang
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Abstract
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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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KEYWORD
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Lynch syndrome , Mismatched repair genes , Colorectal neoplasms
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