The scientific community has long known that the accumulation of genetic mutations in healthy cells can make them carcinogenic. In fact, a large part of the cancer research of recent years has pivoted on the finding of these genes involved in cancer.
And in those follow the medical community, which aspires to relegate to a background the diagnosis of cancer from the organ and direct personalized therapies according to the molecular profile of each tumor.
Along these lines, a group of scientists has taken another step and described the most up-to-date map of the bladder cancer genome. The research has allowed us to find five new subtypes that open the door to deepen the personalized treatment.
Within the TCGA (Cancer Genome Atlas) project, which began in 2005 to catalog the genetic mutations of different types of cancer, 40 researchers from around the world have analyzed and sequenced the genome of 412 samples of Bladder tumors to detect the genetic mutations that influence this cancer.
“This is one of the tumors where samples of more patients have been sequenced,” explains Dr. Joaquim Bellmunt, director of the Institute of the Hospital del Mar de Investigaciones Mé Medical (IMIM) in Barcelona and one of the participants in the study.
It is not the first time that bladder cancer has been sequenced, but with such a large number of samples analyzed. The previous study, published in 2014, had only 131 pieces under study. This time, six molecular analysis platforms have been sequencing the 412 available samples for three years and have identified 58 unknown mutated genes and 158 silenced genes that could be potential therapeutic targets.
In this research published in the scientific journal Cell, more than 40 professionals from various disciplines have participated, from bioinformatics responsible for processing and selecting the large amount of data provided by DNA sequencing platforms, to hepatologists and oncologists urologists who interpreted the findings to give a translation in clinical practice.
“Now you have a broader view of the different varieties and genetic alterations of urinary bladder cancer,” says Bellmunt. Bladder cancer is the fourth most common in men and the eleventh in women. According to the Spanish Society of Medical Oncology (SEOM), more than 20,000 cases were diagnosed in 2015, 400,000 worldwide. The estimated five-year survival is 77.5%.
“Now you have a broader view of the different varieties and genetic alterations of urinary bladder cancer,” says Bellmunt. The results of the investigation have allowed to standardize five subtypes of bladder tumors according to their RNA that will serve to better redirect therapeutic interventions.
Four of them had already been described previously, but the scientists found a new subtype, the neuroendocrine, with a rather unfavorable prognosis and impossible to detect by the hepatologist through microscopic analysis. ” This will allow us to give a different chemotherapy , more appropriate for this case,” says the doctor.
Bellmunt recognizes that tumor genomic sequencing platforms are not devices that are available to all hospitals, although there are companies that begin to develop genetic tests. “This study lays the foundation of personalized medicine based on the genomic characterization of the tumor,” he says.
From now on, he says, all that huge amount of data provided by the genome sequencing platforms will be available to the scientific community to “draw more conclusions”, although it rules out that more molecular subtypes of the bladder tumor “Now we have to work with what we have to find new therapeutic targets,” he adds.