Korean J Gastroenterol.  2015 Aug;66(2):106-110. 10.4166/kjg.2015.66.2.106.

Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy

• Lee KS
• Lee SH
• Myong NH

• KMID: 2373322
• DOI: http://doi.org/10.4166/kjg.2015.66.2.106

Abstract

Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.

Keyword

Peutz-Jeghers syndrome; Child; Intestinal polyps

MeSH Terms

Adenoma/*diagnosis/pathology
Base Sequence
Colonoscopy
Heterozygote
Humans
Infant
Male
Peutz-Jeghers Syndrome/*diagnosis/genetics/pathology
Polymorphism, Single Nucleotide
Polyps/pathology
Protein-Serine-Threonine Kinases/chemistry/genetics
Protein-Serine-Threonine Kinases

Figure

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  Fig. 1. A protruding anal mass is observed, which the 15-month-old boy's parent recalls has been present since one month ago.

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  Fig. 2. Black pigmentations are found on the lips.

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  Fig. 3. A pedunculated polyp with mucosal redness was found on sigmoid colon.

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  Fig. 4. The partial gene sequencing of STK 11 gene shows heterozygote mutation.

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  Fig. 5. On histologic examination, the polyp shows well-developed arborizing smooth muscle fiber bundles and complex hyperplastic glandular structures (H&E stain, ×100).

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  Fig. 6. The surface mucosal epithelia of the polyp show multifocally adenomatoid cell proliferation, that is continuous with the matured surface epithelium, compatible with regenerating crypt atypia (H&E stain, ×400).

Reference

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