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1.
J Pediatr Hematol Oncol ; 46(4): 211-215, 2024 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-38573000

RESUMO

Diffuse intrinsic pontine gliomas are lethal tumors with a prognosis generally less than 1 year. Few cases of survivors of 5 years or more have been reported. This case report highlights the journey of a 9.5-year survivor who underwent 3 rounds of focal radiotherapy; she experienced 6 years of progression-free survival following the first round but ultimately succumbed to her disease. An autopsy revealed a favorable IDH1 mutation and the absence of H3K27M. This case reiterates the importance of extensive molecular analyses in diffuse intrinsic pontine gliomas and explores the potential benefit of re-irradiation in patients with positive responses and long periods of remission.


Assuntos
Neoplasias do Tronco Encefálico , Glioma Pontino Intrínseco Difuso , Humanos , Feminino , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Tronco Encefálico/terapia , Neoplasias do Tronco Encefálico/mortalidade , Glioma Pontino Intrínseco Difuso/patologia , Glioma Pontino Intrínseco Difuso/terapia , Glioma Pontino Intrínseco Difuso/genética , Criança , Sobrevivência , Sobreviventes de Câncer , Evolução Fatal , Isocitrato Desidrogenase/genética , Prognóstico , Mutação
2.
Childs Nerv Syst ; 40(6): 1965-1969, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38478067

RESUMO

Pediatric intracranial sarcomas are rare, aggressive tumors with a poor prognosis in general. Here we report the case of a child who was initially diagnosed with a primary intracranial sarcoma, DICER1-mutant; subsequent genetic analyses confirmed a pathogenic germline DICER1 mutation. She received multimodal standard treatments consisting of surgery, radiotherapy and chemotherapy. The tumor recurred 2.5 years later within the surgical cavity. Following the gross tumor resection of this new lesion, the same multimodal standard approach was used. From a molecular perspective, evidence of hyperactivation of the MAPK-kinase pathway with a pathogenic KRAS mutation at both diagnosis and recurrence was present. The patient is currently in remission, 18 months post-end of treatment.


Assuntos
Neoplasias Encefálicas , RNA Helicases DEAD-box , Recidiva Local de Neoplasia , Ribonuclease III , Sarcoma , Humanos , Ribonuclease III/genética , RNA Helicases DEAD-box/genética , Feminino , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Recidiva Local de Neoplasia/genética , Sarcoma/genética , Mutação/genética , Criança
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