Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Neuro Oncol
; 25(12): 2273-2286, 2023 12 08.
Article
en En
| MEDLINE
| ID: mdl-37379234
ABSTRACT
BACKGROUND:
The prognosis for Li-Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data for this patient group is lacking, challenging the development of novel therapeutic strategies. Here, we present clinical and molecular data on a retrospective cohort of pediatric LFS MB patients.METHODS:
In this multinational, multicenter retrospective cohort study, LFS patients under 21 years with MB and class 5 or class 4 constitutional TP53 variants were included. TP53 mutation status, methylation subgroup, treatment, progression free- (PFS) and overall survival (OS), recurrence patterns, and incidence of subsequent neoplasms were evaluated.RESULTS:
The study evaluated 47 LFS individuals diagnosed with MB, mainly classified as DNA methylation subgroup "SHH_3" (86%). The majority (74%) of constitutional TP53 variants represented missense variants. The 2- and 5-year (y-) PFS were 36% and 20%, and 2- and 5y-OS were 53% and 23%, respectively. Patients who received postoperative radiotherapy (RT) (2y-PFS 44%, 2y-OS 60%) or chemotherapy before RT (2y-PFS 32%, 2y-OS 48%) had significantly better clinical outcome then patients who were not treated with RT (2y-PFS 0%, 2y-OS 25%). Patients treated according to protocols including high-intensity chemotherapy and patients who received only maintenance-type chemotherapy showed similar outcomes (2y-PFS 42% and 35%, 2y-OS 68% and 53%, respectively).CONCLUSIONS:
LFS MB patients have a dismal prognosis. In the presented cohort use of RT significantly increased survival rates, whereas chemotherapy intensity did not influence their clinical outcome. Prospective collection of clinical data and development of novel treatments are required to improve the outcome of LFS MB patients.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Cerebelosas
/
Síndrome de Li-Fraumeni
/
Meduloblastoma
Tipo de estudio:
Clinical_trials
/
Guideline
/
Observational_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Neuro Oncol
Asunto de la revista:
NEOPLASIAS
/
NEUROLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Alemania