Rabdomiosarcoma
Table of Contents
Che cos’è il rabdomiosarcoma?
Il rabdomiosarcoma è una neoplasia maligna ad insorgenza dalle cellule del muscolo scheletrico che rappresenta circa il 50% dei sarcomi dei tessuti molli del bambino. Il rischio di sviluppare un rabdomiosarcoma fino a 14 anni è pari al 0,07‰. Il rabdomiosarcoma ha un incidenza pari al 3% dei casi in età pediatrica e al 43% dei tumori dei tessuti molli. L’incidenza del rabdomiosarcoma è simile nei due sessi. L’età media alla diagnosi è 5 anni.
Si distinguono principalmente due sottotipi di rabdomiosarcoma:
- Embrionale: insorge più spesso nell’area della testa e del collo, o negli organi genito-urinari, in particolare nei testicoli. È il tipo più comune.
- Alveolare: La forma alveolare interessa maggiormente gli arti, quasi mai le orbite e molto spesso i linfonodi.
Causa
La causa dell’ rabdomiosarcoma è sconosciuta ma molto spesso la forma alveolare si associa alla traslocazione t(2;13).
Sintomi
I sintomi dipendono dalla sede del tumore e sono determinati solitamente da un effetto massa o di un gonfiore che aumenta più o meno rapidamente. Non è facile la diagnosi perché i sintomi sono generici e nei bambini possono essere attribuiti a cadute o incidenti.
Altri sintomi:
- Un nodulo, tumefazione, massa o gonfiore che tende a crescere. Può essere doloroso.
- Esoftalmo
- Problemi a urinare o a defecare
- Ematuria
- Inspiegabile sanguinamento da naso, gola, vagina o ano.
Diagnosi
La diagnosi è istologica. Altri esami diagnostici sono:
Si tratta di esami di diagnostica attraverso immagini (imaging):
TAC o la risonanza magnetica nucleare (RMN), talvolta l’ecografia per alcune lesioni superficiali. Secondo i casi, può prescrivere anche una scintigrafia ossea, oppure una cistoscopia.
Terapia
La scelta terapeutica dipende da molti fattori: stadio della malattia, il grado di aggressività, le condizioni generali. Il trattamento consiste in un approccio combinato di chemioterapia, chirurgia e radioterapia. Attualmente la probabilità di guarigione nei casi di malattia localizzata è intorno al 70%, mentre resta al di sotto del 25% per i pazienti con malattia metastatica.
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