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.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jpedsurg.2011.01.005 | DOI Listing |
Clin Chem
January 2025
Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, United States.
Clin Chem
January 2025
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, United States.
Clin Chem
January 2025
Division of Cancer Research, Peter MacCallum Cancer Centre, Melbourne, Australia.
Surgery
December 2024
Department of Surgery, Weill Cornell Medicine, New York, NY.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!