Tuberous sclerosis 1 and 2

Kidney cancer. Principles and practice. Second edition. Primo N. Lara, Jr. Eric Jonasch (Editors). Springer International Publishing (2015)

The tuberous sclerosis complex is an autosomal dominant condition well known to the dermatologic and neurologic communities. Its underlying genetic mutations were successfully linked to TSC1 (9q34), hamartin, and TSC2 (16p13), tuberin [54, 55]. Similar in its signaling pathway to VHL, the loss of TSC2 in animal models has shown to upregulate HIF and mTORC1 [56, 57]. While hamartin and tuberin represent the most recognized germline mutations, the genetic basis for the renal pathologies in the setting of TSC remains ill defined.

The hallmark of tuberous sclerosis is its dermatologic manifestations. Nearly all of the affected individuals demonstrate some form of skin lesions: ash-leaf spots (hypopigmented macules), angiofibromas (also known as fibroadenomas) (Fig. 8.6), and shagreen patches found most commonly on the lower trunk. A significant portion of these people also have intracranial lesions, with the most well-known lesions being the glioneuronal hamartomas, or tubers. Moreover, they may also harbor subependymal giant cell astrocytomas (SEGAs). Surprisingly, the degree of cognitive dysfunction and epileptic risk are only loosely correlated with the burden of brain lesions.

Renal manifestations of TSC tend to be highly penetrant. The common lesions include angiomyolipomas, renal cysts, and less commonly RCC, which can be of any subtype [58]. Despite the benign nature of AMLs, mass effects are common, and the clinician should always be wary of the risk of hemorrhage for lesions greater than 4 cm. It is worthy of noting that some patients with TSC suffer from chronic kidney disease, which may be the result of renindependent hypertension or direct parenchymal compression. While RCC arise in <5% of patients with TSC, the lesions tend to have an early age of onset and a more aggressive clinical course [59].

__Kidney Cancer_ Principles and Practice-Springer International Publishing (2015) 8.6

Fig. 8.6. Image of the nasal labial fold of a young man with TSC showing extensive angiofibromas/fibroadenomas

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