[Malignant transformation of Ollier disease-related multiple glioma with IDH1 p.R132C mutation].
Rinsho Shinkeigaku
; 64(7): 474-479, 2024 Jul 27.
Article
em Ja
| MEDLINE
| ID: mdl-38897973
ABSTRACT
A 21-year-old man who was diagnosed with Ollier disease at the age of 1 year developed incidental multiple gliomas at the age of 15 years. Subsequently, the multiple gliomas enlarged and the patient underwent three surgical removals. Genetic analysis revealed the IDH1 p.R132C mutation in the gliomas, and histopathology showed malignant transformation. Despite multimodality treatment, the gliomas could not be controlled, and the patient died at the age of 23 years. Ollier disease is a rare disease with IDH1/2 mutations and is often associated with gliomas. However, there are very few reports on genetic analysis of IDH1/2 mutations and long-term follow-up in Ollier disease-related gliomas. Genetic analysis of IDH mutations may contribute to the elucidation of its pathogenesis. The cross-departmental collaboration is required for long-term follow-up of Ollier disease-related gliomas.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Encefálicas
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Transformação Celular Neoplásica
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Encondromatose
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Glioma
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Isocitrato Desidrogenase
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Mutação
Limite:
Adolescent
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Adult
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Humans
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Male
Idioma:
Ja
Revista:
Rinsho Shinkeigaku
Ano de publicação:
2024
Tipo de documento:
Article