Related Experiment Video
Updated: Mar 3, 2026
Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas
Published on: September 13, 2019
Assessment of tumors in children with tuberous sclerosis: a single centre's experience
Suna Emir1, Şadan Hacısalihoğlu1, Derya Özyörük1
1Clinic of Pediatric Oncology, Ankara Children's Hematology and Oncology Education and Research Hospital, Ankara, Turkey.
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.
Insights
Tuberous sclerosis is a genetic disorder causing benign tumors due to overactive mTOR signaling. This review highlights common tumors like renal angiomyolipomas and cardiac rhabdomyomas in affected patients.
Area of Science:
- Genetics and Oncology
- Neurology
Background:
- Tuberous sclerosis results from TSC1/TSC2 gene mutations, leading to mammalian target of the rapamycin (mTOR) pathway overactivation.
- This overactivation drives abnormal cell proliferation and differentiation, causing various benign tumors.
Purpose of the Study:
- To review the types and prevalence of tumors in patients diagnosed with tuberous sclerosis.
Main Methods:
- Retrospective review of 36 patients with tuberous sclerosis.
- Data collected included age, sex, family history, clinical presentation, tumor types, and treatments received.
Main Results:
- The study included 36 patients (18 male, 18 female) aged 2 days to 17 years (median 6 years).
- Common findings included hypopigmented spots (30 patients) and seizures (28 patients).
- Prevalent tumors were renal angiomyolipomas (21 patients), cardiac rhabdomyomas (11), and subependymal giant cell astrocytomas (7).
Conclusions:
- Tuberous sclerosis is a multisystemic disease associated with benign tumors and neurological issues.
- Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are frequent manifestations.
- While mTOR inhibitors show promise, their optimal use in tuberous sclerosis treatment requires further investigation.
