Neurofibroma-MPNST progresioaren ikerkuntza induzituriko zelula ama pluripotenteen (iPSC) ereduan oinarritutako sistema erabiliz

Abstract

Malignant Peripheral Nerve Sheath Tumor (MPNST) is an aggressive soft tissue sarcoma that can develop equally spontaneously or in Neurofibromatosis type 1 patients. Complete resection with wide margins is essential in MPNST therapy, followed by radiation, but it is not always successful and has a very bad prognosis and high mortality rate. There is a lack of therapeutic options. MPNSTs are composed of hyperploid cells with structural variants and rearranged genomes. Most of them have NF1, CDKN2A/B and PRC2 tumor suppressor genes inactivated. Using induced pluripotent stem cells (iPSCs) and editing the three tumor suppressor genes by CRISPR-Cas9, we aim to understand the function and implication of these genes in the progression of MPNSTs.