Possible mechanisms of disease development in tuberous sclerosis.

  title={Possible mechanisms of disease development in tuberous sclerosis.},
  author={Jarosław J{\'o}źwiak and Sergiusz J{\'o}źwiak and Pawel Wlodarski},
  journal={The Lancet. Oncology},
  volume={9 1},
The two-hit hypothesis presented by Knudson in 1971 explains the development of tumours deficient in anti-oncogenes. Hamartomas in patients with tuberous sclerosis usually fit into this model, the first hit is a congenital lesion of either of the tuberous sclerosis genes (TSC1 or TSC2), and the second hit is loss of heterozygosity of this gene. Although this mechanism is true for most tumours associated with tuberous sclerosis, only 30-60% of brain and cardiac tumours show loss of… CONTINUE READING