Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena

Creative Commons License

Şahin G. E., Hoşnut F. Ö., Yeşil Ş., Lafcı N. G., Gül A. E., Şahin G.

Turkish Journal of Pediatrics, vol.64, no.4, pp.766-774, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.24953/turkjped.2021.5330
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.766-774
  • Keywords: vitamin A, vitamin D, vitamin E, respiratory distress syndrome, propensity score matching, PTEN hamartoma tumor syndrome, gastrointestinal system bleeding, PTEN mutation, sirolimus
  • Hacettepe University Affiliated: No

Abstract

© 2022, Turkish National Pediatric Society. All rights reserved.Background. PTEN hamartoma tumor syndrome (PHTS) is an umbrella term including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. One of the disorders in PHTS spectrum, CS is characterized by macrocephaly, mucocutaneous findings, gastrointestinal system (GIS) polyposis and an increased lifetime risk of GIS, breast, thyroid and other cancers. Case. In this study, we report an adolescent patient presenting with recurrent life-threatening upper GIS bleeding as a result of hamartomatous polyposis. Genetic studies revealed a known pathogenic nonsense mutation confirming the initial diagnosis of CS. Conclusions. Additionally, we describe our therapeutic intervention to improve the patient’s clinical symptoms with sirolimus, which its use is infrequently addressed in the literature for pediatric age group harboring PTEN mutations.