SALUTE

Retinoblastoma


tumori pediatrici
                                   Retinoblastoma

Che cos’è il retinoblastoma?

 

Il retinoblastoma è un tumore oculare maligno che si sviluppa dalle cellule della retina.  E’ un tumore raro con un’ incidenza di circa  1: 20.000 nati, ma è il principale tumore infantile intraoculare della retina. La diagnosi di retinoblastoma viene effettuata intorno ai 12 mesi di età, raramente >5 anni. Circa il 60% dei retinoblastoma sono sporadici (e unilaterali) mentre il 40% è familiare (e bilaterale). Nel 1971 Knudson scoprì che il retinoblastoma è causato da due eventi mutazionali:

  • una mutazione ereditata per via germinale;
  • la seconda avviene nelle cellule somatiche.

Nella forma non ereditaria entrambe le mutazioni avvengono nelle cellule somatiche.

Il tumore si definisce:

  • endofitico se la massa tumorale si accresce verso l’interno della cavità oculare;
  • esofitico se si estende verso la porzione esterna della retina.


Sintomi

 

I sintomi principali sono:

  • una massa bianca nel campo pupillare (leucocoria)
  • strabismo
  • glaucoma
  • dilatazione della pupilla
  • nistagmo

Diagnosi

L’iter diagnostico prevede:

  • esame oculare con fundus oculi
  • ecografia oculare
  • Tc e/o RMN (Risonanza Magnetica Nucleare)


Terapia

La terapia è efficace in oltre il  90% dei casi senza metastasi e consiste in:

  • chemioterapia (chemioriduzione) seguita da radioterapia, crioterapia o laser
  • radioterapia o enucleazione.

Nei tumori bilaterali. si procede all’escissione dell’occhio in cui il tumore appare più sviluppato, mentre nell’altro occhio la malformazione viene curato con fotocoagulazione laser.

 

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Tumore di Wilms 

Il tumore di Wilms conosciuto anche con il nome di nefroblastoma, è una neoplasia maligna di tipo embrionario ed è il più frequente tumore in età pediatrica (5-10%). Il tumore di Wilms origina dall’ abbozzo embrionale del rene, quando alcune cellule (Continua)

 

 


 

 

 

 

Neuroblastoma

Il neuroblastoma è una neoplasia maligna di insorgenza dalle cellule della cresta neurale e poiché tali cellule sono dislocate ubiquitariamente (gangli paravertebrali, surreni, cute ecc..) la neoplasia può svilupparsi in qualsiasi organo o apparato. Nel 70% dei casi..(Continua)

 

Retina-Wikipedia 

Schematic diagram of the human eye it.svg

Un pensiero su “Retinoblastoma

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