Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.
Pediatr Blood Cancer
; 63(4): 719-22, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26626406
ABSTRACT
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esclerose Tuberosa
/
Neoplasias Cerebelares
/
Meduloblastoma
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article