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Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.
Sahin, Gülseren Evirgen; Hosnut, Ferda Özbay; Yesil, Sule; Lafci, Naz Güleray; Gül, Aylin Ege; Sahin, Gürses.
Afiliación
  • Sahin GE; Departments of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
  • Hosnut FÖ; Departments of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
  • Yesil S; Departments of Pediatric Oncology and Hematology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
  • Gül AE; Department of Pathology, Kartal Lütfi Kirdar Training and Research Hospital, Istanbul, Turkey.
  • Sahin G; Departments of Pediatric Oncology and Hematology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
Turk J Pediatr ; 64(4): 766-774, 2022.
Article en En | MEDLINE | ID: mdl-36082652
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Hamartoma Múltiple Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Humans Idioma: En Revista: Turk J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Hamartoma Múltiple Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Humans Idioma: En Revista: Turk J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía