The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome

YALÇIN S. S., Kirli E., ÇİFTÇİ A. Ö., KARNAK İ., Resta N., Bagnulo R., ...More

JOURNAL OF PEDIATRIC SURGERY, vol.46, no.3, pp.570-573, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.1016/j.jpedsurg.2011.01.005
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.570-573
  • Hacettepe University Affiliated: Yes


Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the previously reported cases with respect to her clinical presentation, associated malignancies, and genetic analysis. To our knowledge, this is the first report of adrenocortical carcinoma in association with PJS, as well as the first instance of associated thyroid cancer in a child with PJS. We briefly review the relevant literature and highlight the recent progress achieved in the investigation of the syndrome. (c) 2011 Elsevier Inc. All rights reserved.