[Ceritinib in the treatment of an adult patient with advanced neuroblastoma positive to the somatic activating mutation of ALK F1174L.] / Il ceritinib nel trattamento di un paziente adulto affetto da neuroblastoma avanzato positivo alla mutazione attivante somatica di ALK F1174L.
Recenti Prog Med
; 111(12): 58e-62e, 2020 12.
Article
em It
| MEDLINE
| ID: mdl-33362184
ABSTRACT
The ALK gene (anaplastic lymphoma kinase) encodes a highly conserved tyrosine kinase receptor whose physiological function has not yet been fully established; in particular the fusion of ALK (mainly EML4-ALK) is the gene alteration that most frequently involves 3-7% of all non-small cell lung cancers. Neuroblastoma in adults (NB) is a rare tumor that can present somatic activating mutations in the ALK gene in 8-9% of patients (and up to 14% of high-risk NBs); these mutations occur in the tyrosine kinase domain in three key positions (F1174, F1245 and R1275), which account for approximately 85% of all ALK mutations in NB. In this article, we report the case of an adult patient with advanced mutation-positive NB treated with an ALK inhibitor ceritinib showing a therapeutic opportunity due to the molecular diagnostic techniques now available.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Pulmonares
/
Neuroblastoma
Limite:
Adult
/
Humans
Idioma:
It
Revista:
Recenti Prog Med
Ano de publicação:
2020
Tipo de documento:
Article