Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome.
- Author:
Do Hee AHN
1
;
Jung Hee RHO
;
Hann TCHAH
;
In Sang JEON
Author Information
- Publication Type:Case Report
- Keywords: Lynch syndrome; Mismatched repair genes; Colorectal neoplasms
- MeSH: Adolescent*; Child; Colonic Neoplasms; Colorectal Neoplasms*; Colorectal Neoplasms, Hereditary Nonpolyposis*; Female*; Heart Defects, Congenital; Humans
- From:Korean Journal of Pediatrics 2016;59(1):40-42
- CountryRepublic of Korea
- Language:English
- 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.
