HEALTH PROFESSIONAL · SOURCE READING

Tuberous sclerosis

Source: Childhood Cancer Genomics (PDQ®)–Health Professional Version, National Cancer Institute.

Source updated: April 30, 2025 · Captured 2026-09-09.

Selected source text with whitespace normalised. This Triangle page is not an NCI PDQ summary. Independent clinical review is pending.

Context: Central Nervous System Tumors / Astrocytomas, Other Gliomas, and Glioneuronal/Neuronal Tumors / Selected cancer susceptibility syndromes associated with pediatric glioma

Patients with tuberous sclerosis have a predilection for developing subependymal giant cell astrocytoma (SEGA). Variants in either TSC1 or TSC2 cause constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway, leading to increases in proliferation. SEGAs are responsive to molecularly targeted approaches with mTORC1 pathway inhibitors.[9][Level of evidence C2] Patients with tuberous sclerosis are also at risk of developing cortical tubers and subependymal nodules.

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PubMed 26381530 · Original source

Preserved source evidence · Independent clinical review pending · Not medical advice