Problemi speciali
Sclerosi tuberosa ed everolimus: una nuova storia
Tuberous sclerosis and everolimus a new way of treatment
Chiara Cervesi, Giulia Maria Di Marzio, Valentina Kiren, Elisabetta Cattaruzzi, Paola Costa, Marco Carrozzi
SC di Neuropsichiatria Infantile, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Settembre 2021 - pagg. 443 -449 | DOI: 10.53126/MEB40443
Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It frequently associated to seizures, intellectual disability and behavioural disorders. Surgical treatment has traditionally been used to manage subependymal giant cells astrocytomas (SEGA). The introduction of mTOR inhibitor rapamycin, with its definite role both as primary and as adjuvant treatment, has significantly modified the management opportunities in the clinical practice. It is important to consider both treatment options in a balanced way and not only the SEGA, but also the individual patient and their associated comorbidities. The pros and the cons of both options should be discussed by a multidisciplinary team before establishing an individualized treatment recommendation. The paper reports the case of a patient with an asymptomatic SEGA who was treated with everolimus. The treatment was effective in reducing the size of the tumour, it was safe and well tolerated.
Riassunto
La Sclerosi Tuberosa Tuberous Sclerosis Complex (TSC) è una malattia autosomica dominante, dovuta a mutazioni dei geni TSC1 o TSC2 i quali determinano un difetto di inibizione del recettore mTOR (mammalian Target of Rapamycin), uno dei principali regolatori della proliferazione cellulare. La TSC è caratterizzata dalla presenza di manifestazioni multisistemiche variabili con la comparsa di tumori di vario tipo, dagli amartomi alle neoplasie maligne, e frequentemente di epilessia, di disabilità intellettiva e di disturbi comportamentali. L’'introduzione dell'inibitore di mTOR rapamicina, sia come trattamento primario che come adiuvante, ha modificato in modo significativo la terapia degli astrocitomi a cellule giganti subependimali (SEGA), tradizionalmente rappresentata unicamente dall’asportazione chirurgica. Nella scelta del trattamento, i pro e i contro di entrambe le opzioni dovrebbero essere discussi all’interno di un team multidisciplinare, formato da neurologi oncologi e neurochirurghi, il quale valuti non soltanto il SEGA, ma anche il soggetto con le sue specificità e le comorbidità associate. Riportiamo il caso di un paziente con un SEGA asintomatico, diagnosticato in un esame RM di screening, il quale è stato trattato con everolimus. Il farmaco si è dimostrato efficace nel ridurre le dimensioni del tumore ed è stato ben tollerato.
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Corrispondenza: paola.costa@burlo.trieste.it