Tuberous sclerosis complex: tumors and tumorigenesis

Abstract

Tuberous sclerosis complex (TSC) is an inherited disorder characterized by hamartomas in different body organs, mainly in the brain, skin, kidney, liver, lung, and heart. The clinical manifestations of TSC are the result of a mutation of one of two tumor suppressor genes, TSC1 and TSC2. Cutaneous findings in TSC should be regarded as cutaneous signs of a pivotal systemic disease. The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies.

Esclerosis tuberosa en el adulto: Hallazgos en tomografía computada multicorte, presentación de un caso clínico y revisión de literatura

“…La esclerosis tuberosa, también conocida como complejo esclerosis tuberosa o enfermedad de Bourneville-Pringle, es una patología neurocutánea (1)(2)(3)(4)(5)(6)(7)(8) caracterizada por la presencia de tumores benignos en distintos órganos como consecuencia de la mutación de dos genes: el TSC 1 que codifica la hamartina y el gen TSC 2 que codifica la tuberina, ambas con función supresora de tumores hamartomatosos (1)(2)(3)(4)(5) . La TS se desarrolla principalmente en la infancia y generalmente es diagnosticada antes de los 10 años, 5 siendo la incidencia de 1 cada 10.000 nacimientos (1)(2)(3)(4)(5)(6) y alcanza una expectativa de vida de 35 años (2) .…”

“…Se caracteriza por la presencia de tumores hamartomatosos benignos en distintos órganos como consecuencia de la mutación de genes específicos que codifican dos proteínas, ambas supresoras de tumores (1)(2)(3)(4)(5)(6)(7)(8) . La mayoría de las veces es diagnosticada en la niñez, presentándose con autismo, epilepsia y falla cardíaca.…”

Signs and Symptoms of Tuberous Sclerosis Complex

“…Diagnosis is based on symptoms and signs presentation which are differentiated as major and minor clinical TSC characteristics (Table 1) [1][2][3]. …”

Familial Tuberous Sclerosis: a case report

“…1 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with high penetrance and extensive clinical variability; two-third of cases are caused by de novo mutations and are the effects of parentral mosaicism and remaining cases caused by mutations in either the TSC1 gene, which maps to chromosome 9q34 and encodes a protein termed hamartin, or the TSC2 gene, which maps to chromosome 16p13.3 and encodes the protein tuberin. 2 Hamartin forms a complex with tuberin, which inhibits cellular signalling through the mTOR, and acts as a negative regulator of the cell cycle. 3 In 1908 Vogt proposed a triad typical for TSC diagnosis, consisting of epilepsy, low intelligence and angiofibromas.…”

“…3 In 1908 Vogt proposed a triad typical for TSC diagnosis, consisting of epilepsy, low intelligence and angiofibromas. 2 Definitive TSC is diagnosed with either two major features (out of total of 11) or one major feature with two minor features (out of total of 9). 4 The most important neurological problems are mental retardation, seizures, autism and learning difficulties.…”