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

Kun Song Lee; Seung Ho Lee; Na-Hye Myong

doi:10.4166/kjg.2015.66.2.106

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Lee, Lee, and Myong: Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy

Case Report

Korean J Gastroenterol 2015;66(2):106-110.

Published online: 4 October 2015

DOI: https://doi.org/10.4166/kjg.2015.66.2.106

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

Kun Song Lee, Seung Ho Lee, Na-Hye Myong¹

Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea

¹Department of Pathology, Dankook University College of Medicine, Cheonan, Korea

Correspondence to: Kun Song Lee, Department of Pediatrics, Dankook University College of Medicine, 201 Manghyang-ro, Dongnam-gu, Cheonan 31116, Korea. Tel: +82-41-550-3968, Fax: +82-41-550-3949, E-mail: pdlks@dankook.ac.kr

Received 26 January 2015 Revised 3 March 2015 Accepted 12 March 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Peutz-Jeghers syndrome, Child, Intestinal polyps

References

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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.

Fig. 2.

Black pigmentations are found on the lips.

Fig. 3.

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

Fig. 4.

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

Fig. 5.

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

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).

Table 1.

Characteristics of Polyps

Location	Size (cm)	Gross finding	Removal	Pathologic finding
AV 3 cm rectum	2.2	Pedunculate	Snare	Hamartomatous polyp
		Multilobulate
AV 5 cm rectum	1.8	Pedunculate	Snare	Hamartomatous polyp
		Multilobulate
AV 6 cm rectum	0.5	Sessile	Snare	Hamartomatous polyp
Transverse colon	2.0	Pedunculate	Snare	Arborizing smooth muscle components that are compatible with the Peutz-Jeghers polyp
		Multilobulate
Descending colon C	1.2	Pedunculate	Snare	Multifocally adenomatoid cell proliferation
		Mutilobulate

AV, anal verge.

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