Suna Emir1, Şadan Hacısalihoğlu1, Derya Özyörük1, Filiz Ekici2, Aydan Değerliyurt3, Alev Güven3, İlker Çetin2. 1. Clinic of Pediatric Oncology, Ankara Children's Hematology and Oncology Education and Research Hospital, Ankara, Turkey. 2. Clinic of Pediatric Cardiology, Ankara Children's Hematology and Oncology Education and Research Hospital, Ankara, Turkey. 3. Clinic of Pediatric Neurology, Ankara Children's Hematology and Oncology Education and Research hospital, Ankara, Turkey.
Abstract
AIM: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. MATERIAL AND METHODS: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments. RESULTS: Our study included 36 patients (18/18:M/F) aged between two days and 17 years with a median age of 6 years. There were hypopigmented spots in 30 patients, seizures in 28 patients, and a family history in 11 patients. Tumors related to tuberous sclerosis were renal angiomyolipomas in 21 patients, cardiac rhabdomyomas in 11, subependymal giant cell astrocytomas in seven, and non renal hamartoma in one patient. Everolimus treatment was used in only two patients because of hemodynamic instability. CONCLUSIONS: Tuberous sclerosis is a multisystemic disease characterized by the presence of various benign tumors and neurologic disorders. Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are commonly observed in patients with tuberous sclerosis. mTOR inhibitors such as everolimus and sirolimus have been increasingly used in the treatment of these tumors. However, the duration and optimal dose of mTOR inhibitors is still controversial and should be used in selected cases.
AIM: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. MATERIAL AND METHODS: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments. RESULTS: Our study included 36 patients (18/18:M/F) aged between two days and 17 years with a median age of 6 years. There were hypopigmented spots in 30 patients, seizures in 28 patients, and a family history in 11 patients. Tumors related to tuberous sclerosis were renal angiomyolipomas in 21 patients, cardiac rhabdomyomas in 11, subependymal giant cell astrocytomas in seven, and non renal hamartoma in one patient. Everolimus treatment was used in only two patients because of hemodynamic instability. CONCLUSIONS:Tuberous sclerosis is a multisystemic disease characterized by the presence of various benign tumors and neurologic disorders. Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are commonly observed in patients with tuberous sclerosis. mTOR inhibitors such as everolimus and sirolimus have been increasingly used in the treatment of these tumors. However, the duration and optimal dose of mTOR inhibitors is still controversial and should be used in selected cases.
Authors: Afshin Saffari; Ines Brösse; Adelheid Wiemer-Kruel; Bernd Wilken; Paula Kreuzaler; Andreas Hahn; Matthias K Bernhard; Cornelis M van Tilburg; Georg F Hoffmann; Matthias Gorenflo; Sven Hethey; Olaf Kaiser; Stefan Kölker; Robert Wagner; Olaf Witt; Andreas Merkenschlager; Andreas Möckel; Timo Roser; Jan-Ulrich Schlump; Antje Serfling; Juliane Spiegler; Till Milde; Andreas Ziegler; Steffen Syrbe Journal: Orphanet J Rare Dis Date: 2019-05-03 Impact factor: 4.123