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. 2016 Jan;59(1):40-2.
doi: 10.3345/kjp.2016.59.1.40. Epub 2016 Jan 22.

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

Do Hee Ahn  1 , Jung Hee Rho  1 , Hann Tchah  1 , In-Sang Jeon  1
Affiliations

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

Do Hee Ahn et al. Korean J Pediatr. 2016 Jan.

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.

Keywords: Colorectal neoplasms; Lynch syndrome; Mismatched repair genes.

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Conflict of interest statement

Conflicts of interest: No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1. Medium-power view of the tumor shows that neoplastic cells form tortuous and fused glands with desmoplastic reaction. These characteristics are compatible with adenocarcinoma (H&E, ×200).
Fig. 2
Fig. 2. DNA sequence analysis of MLH1 reveals a heterozygous splicing mutation, c. 678-1G>C.
Fig. 3
Fig. 3. A genetic study showed that the patient and her mother had the same MLH1 mutation, and two cases of colorectal cancer were found on her maternal side.
See this image and copyright information in PMC

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