The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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A Case of Peutz-Jeghers Syndrome with Small Bowel Neuroendocrine Carcinoma

소장 신경내분비암종을 동반한 Peutz-Jeghers 증후군 1예

  • Kim, Seul Ki (Department of Gastroenterology, Internal Medicine, Dong-A University College of Medicine) ;
  • Jang, Jin Seok (Department of Gastroenterology, Internal Medicine, Dong-A University College of Medicine) ;
  • Han, Ji Sun (Department of Gastroenterology, Internal Medicine, Dong-A University College of Medicine) ;
  • Choi, Seok Reyol (Department of Gastroenterology, Internal Medicine, Dong-A University College of Medicine) ;
  • Kwon, Hee Jin (Department of Radiology, Dong-A University College of Medicine) ;
  • Kim, Su Jin (Department of Pathology, Dong-A University College of Medicine)
  • 김슬기 (동아대학교 의과대학 소화기내과학교실) ;
  • 장진석 (동아대학교 의과대학 소화기내과학교실) ;
  • 한지선 (동아대학교 의과대학 소화기내과학교실) ;
  • 최석렬 (동아대학교 의과대학 소화기내과학교실) ;
  • 권희진 (동아대학교 의과대학 영상의학교실) ;
  • 김수진 (동아대학교 의과대학 병리학교실)
  • Received : 2012.04.28
  • Accepted : 2012.09.03
  • Published : 2013.05.01
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Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Hamartomas are not generally regarded as premalignant, although patients with PJS are at increased risk for common and unusual types of gastrointestinal and non-gastrointestinal malignancies. However, most of the reported gastrointestinal malignancies have been adenocarcinomas, and few reports of an association of this syndrome with a neuroendocrine tumor (NET) have been published. Moreover, no case of this syndrome with NET has been reported in Korea. Here, we report a 21-year old male with PJS who had a small bowel neuroendocrine carcinoma.

PJS는 위장관의 다발성 과오종성 용종증과 피부 점막의 색소 침착을 특징으로 하며, 상염색체 우성으로 유전하는 드문 질환으로, 위장관 출혈이나 장폐색, 장중첩증 등의 합병증을 야기할 수 있다. PJS에서는 위장관 및 타 장기에서의 악성종양의 발생 빈도가 높으나, 위장관에서 보고된 종양의 경우 대부분 선암이며, PJS가 신경내분비종양과 동반된 경우는 아직 국내에 보고된 바 없다. 저자들은 PJS 환자에서 발생한 소장 기원의 소세포 신경내분비암종 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

Keywords

References

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