Novel detection system of chromosomal alterations for the diagnostic, prognostic or monitoring of different types of cancer and diseases of genetic origin

Cancer is a disease that arises from the gradual accumulation of modifications at both the genetic and epigenetic levels. The high genetic heterogeneity produces one of the main problems and difficulties in the management and characterization of tumors. Within the tumor, cancer stem cells (CSCs) are one of the main sources of this heterogeneity. These cells have, among other characteristics, a high genomic instability that can be influenced in most cases by the surrounding tumor microenvironment. Previous studies have shown that CSCs cultured in a conditioned medium, which have been obtained from mesenchymal stem cells (MSCs), contain alterations in specific chromosome regions. Capture, identify, track and describe this region is essential since it seems to be the pattern that marks tumor aggressiveness and can be transferred to the clinic for better diagnosis, better classification and progress both in the initial stages and in the treatment efficacy. Researchers from a Spanish genomics research institute and a Spanish university have developed a fast and efficient method to evaluate the presence of chromosomal alterations in the specific chromosomal region. Through this protocol and methodology, it is possible to generate a rapid estimation by cytometry, visualization in microscopy and at the same time use the same probe for subsequent capture in next-generation sequencing. For the first time, a probe adopts this multifunctional character, opening the door to a powerful diagnostic, prognostic and monitoring kit for different types of cancer. In addition, this novel technology can be extended to other diseases whose origin is based on genetic alterations. Both entities are looking for partners from companies related to diagnostic tests in the field of oncology, which are interested in licensing this technology.