RESUMO
The Ewing's sarcoma family can present diagnostic difficulties. In the past the basis of diagnosis has been a exclusion. Identification of a specific translocation especially t(11;22) (EWS-FLI 1 fusion gene), which is seen in nearly 85 percent of Ewing's sarcoma cases can help in precise diagnosis. We have carried out a study on twenty patient samples diagnosed to have Ewing's sarcoma/peripheral neuroectodermal tumour (PNET)/small round cell malignant tumour. The study involved RT-PCR analysis for the fusion transcript, followed by sequencing to identify the specific type of fusion. Ninety percent (18/20) of the samples tested were found to be t(11;22) translocations involving EWS-FLI 1 genes. Sixty-one percent (11/18) were found to be type 1 fusion and seven were type 2 (39 percentage). This is the first study in India with quantitative information about the types of EWS-FLI 1 translocations present in Ewing's family of tumours in south Indian patients.
Assuntos
Adolescente , Adulto , Criança , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 22 , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Tumores Neuroectodérmicos Primitivos Periféricos/classificação , Proteínas de Fusão Oncogênica/genética , Sarcoma de Ewing/classificação , Fatores de Transcrição/genética , Translocação GenéticaRESUMO
Atualmente, os cistos intraventriculares nao neoplasicos e nao inflamatorios sao divididos em dois grupos distintos: cistos neuroepiteliais (neurogliais) e cistos coloides. Os cistos neuroepiteliais e coloides eram considerados originarios do neuroepitelio primitivo, porem, estudos imuno-histoquimicos recentes sugerem uma origem endodermica para os cistos coloides...