RESUMO
Subependymomas are benign tumors that occur predominantly in the ventricular system. We describe a case of a 57-year-old man with a large cerebellopontine angle (CPA) tumor which expanded into the jugular foramen. Complete surgical excision of the tumor was achieved through a retrosigmoid approach and the histopathological diagnosis was subependymoma. Subependymomas located exclusively in the CPA without extension into the fourth ventricle are extremely rare. The mainly pathological features and the difficulty in correctly diagnosing these cases preoperatively, even with MRI, are discussed.
Assuntos
Neoplasias Encefálicas/diagnóstico , Quarto Ventrículo , Glioma Subependimal/diagnóstico , Neuroma Acústico/diagnóstico , Neoplasias Encefálicas/cirurgia , Ângulo Cerebelopontino/patologia , Ângulo Cerebelopontino/cirurgia , Glioma Subependimal/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Neuroma Acústico/cirurgiaRESUMO
Cerebellar liponeurocytoma, a rare, newly identified CNS neoplasm of adults, is characterized by advanced neuronal/neurocytic and focal lipomatous differentiation, low proliferative potential and a favorable clinical prognosis. Despite the different age distribution and benign biological behavior, the cerebellar liponeurocytoma shares several features with the cerebellar medulloblastoma, which may include an origin from the periventricular matrix of the fourth ventricle or the external granular layer of the cerebellum. To establish the genetic profile of cerebellar liponeurocytomas, we have formed an international consortium and collected tumor samples from 20 patients. DNA sequencing revealed TP53 missense mutations in 4 (20%) of 20 cerebellar liponeurocytomas, a frequency higher than in medulloblastomas. There was no case with PTCH, APC, or beta-catenin mutations, each of which may be present in subsets of medulloblastomas. Isochromosome 17q, a genetic hallmark of classic medulloblastomas, was not observed in any of the cases investigated by FISH analysis. cDNA array analyses were carried out on 4 cerebellar liponeurocytomas, 4 central neurocytomas, and 4 classic medulloblastomas. Cluster analysis of the cDNA expression data of 1176 genes grouped cerebellar liponeurocytomas close to central neurocytomas, but distinct from medulloblastomas. These results suggest cerebellar liponeurocytoma as a distinct tumor entity that is genetically different from medulloblastoma. Furthermore, the cDNA expression array data suggest a relationship to central neurocytomas, but the presence of TP53 mutations, which are absent in central neurocytomas, suggests that their genetic pathways are different.
Assuntos
Neoplasias Cerebelares/genética , DNA de Neoplasias/análise , Lipoma/genética , Neurocitoma/genética , Adulto , Idoso , Neoplasias Cerebelares/classificação , Neoplasias Cerebelares/patologia , Diagnóstico Diferencial , Feminino , Genes p53/genética , Humanos , Hibridização in Situ Fluorescente , Lipoma/classificação , Lipoma/patologia , Masculino , Meduloblastoma/genética , Meduloblastoma/patologia , Pessoa de Meia-Idade , Mutação , Neurocitoma/classificação , Neurocitoma/patologia , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo Conformacional de Fita SimplesRESUMO
The term "cerebellar liponeurocytoma", recently adopted by the World Health Organization Working Group (WHO), replaced many other different terms used up to now to give name to this rare tumor. To our knowledge, less than 20 cases have been related up to now under different names like as "lipomatous medulloblastoma, lipidized medulloblastoma, neurolipocytoma, medullocytoma and lipomatous glioneurocytoma". The new nomenclature eliminates the word "medulloblastoma", reinforces its benign character, and includes it in the category of glioneuronal tumors. We describe an addictional case of this distinct clinico-pathological entity removed from the right cerebellar hemisphere of a 53-year-old woman. With the present case report, we hope to contribute to the knowledge on the diagnostic and prognostic implications derived from the finding of mature adipose-like tissue within a medulloblastomatous tumour.
Assuntos
Neoplasias Cerebelares/patologia , Lipoma/patologia , Neurocitoma/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Prognóstico , Terminologia como AssuntoRESUMO
The term "cerebellar liponeurocytoma", recently adopted by the World Health Organization Working Group (WHO), replaced many other different terms used up to now to give name to this rare tumor. To our knowledge, less than 20 cases have been related up to now under different names like as "lipomatous medulloblastoma, lipidized medulloblastoma, neurolipocytoma, medullocytoma and lipomatous glioneurocytoma". The new nomenclature eliminates the word "medulloblastoma", reinforces its benign caracter, and includes it in the category of glioneuronal tumors. We describe an adictional case of this distinct clinico-pathological entity removed from the right cerebellar hemisphere of a 53-year-old woman. With the present case report, we hope to contribute to the knowledge on the diagnostic and prognostic implications derived from the finding of mature adipose-like tissue within a medulloblastomatous tumour
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Cerebelares , Lipoma , Neurocitoma , PrognósticoRESUMO
Os autores registram um caso de paraplegia causada por uma lesao granulomatosa de PCM intramedular. O diagnostico clinico neurologico de uma lesao compressiva intramedular foi confirmado pelo exame de ressonancia nuclear magnetica da coluna, que mostrou lesao captante de contraste a nivel de T12. O paciente foi operado e a lesao totalmente retirada. O exame histopatologico da peca operatoria confirmou o diagnostico de PCM. O doente esta em uso de SMZ/TMP e fluconazol com boa recuperacao neurologica
