Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome / 소아과
Korean Journal of Pediatrics
; : 40-42, 2016.
Article
in En
| WPRIM
| ID: wpr-98138
Responsible library:
WPRO
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.
Key words
Full text:
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Index:
WPRIM
Main subject:
Colorectal Neoplasms
/
Colorectal Neoplasms, Hereditary Nonpolyposis
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Colonic Neoplasms
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Heart Defects, Congenital
Limits:
Adolescent
/
Child
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Female
/
Humans
Language:
En
Journal:
Korean Journal of Pediatrics
Year:
2016
Type:
Article