Genetic alterations and diagnosis in Ewing sarcoma: A review

Abstract

Ewing Sarcoma is a malign cancer that mainly occurs in white boys and that affects primitive mesenchymal cells. The main genetic alteration responsible for this cancer is EWSR1-FLI1 translocation that encodes a chimeric protein that can interfere in other genes transcription. This abnormality associated to secondary mutations generates the disease phenotype, affecting bones and soft tissues. For diagnosis purposes, it is necessary a histochemical and anatomopathological examination. Treatment is based on adjuvant chemotherapy associated to radiotherapy and surgery, with the intention to eradicate local neoplastic and metastatic cells, which normally stablish in the lungs.