The Turkish Journal of Pediatrics
2022 , Vol 64 , Num 4
Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena
1 Departments of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey2 Departments of Pediatric Oncology and Hematology, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey
3 Departments of Medical Genetics, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey
4 Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
5 Department of Pathology, Kartal Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey DOI : 10.24953/turkjped.2021.5330 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.
Keywords : PTEN hamartoma tumor syndrome, gastrointestinal system bleeding, PTEN mutation, sirolimus