Researchers from IIS Biodonostia and IIS Biocruces, in close collaboration with Hospital Universitario Donostia and Hospital Universitario Cruces, as well as with international sites in Latvia, the Czech Republic and Mexico have confirmed that tubulocystic carcinoma is a distinct sub-type within the different types of kidney cancer in genetic terms, with its potential implications for diagnosis as well as how it paves the way for new therapies targeted at patients affected by this type of tumour. This research work has been published in The Journal of Molecular Diagnostics, selected for the commentary section as well as appearing on the front cover of the January edition.
Kidney cancer is one of the most common types of cancers in the Western world, accounting for approximately 3% of tumours in adults. 200,000 cases are diagnosed each year, claiming the lives of more than 800 people in Spain alone. While the majority of renal cell carcinomas are for one sub-type, there are at least 20 other different sub-types that are distinguishable in a histological examination despite having similar features and traits. Tubulocystic renal cancer is one of these sub-types that has been recently classified as a distinct entity within kidney cancer. The similarity of its features with other sub-types as well as commonly presenting alongside them, makes it difficult to make this distinction, hence the necessity for molecular tools to enable the differenciation of these sub-types.
A combination of cutting-edge sequencing and gene expression analysis techniques have been used in this study to look at the differences between genetic material extracted from cases of tubulocystic carcinomas and that taken from other cases involving other types of renal cell carcinoma. The profile of tubulocystic carcinomas was found to be different in terms of the mutations present in genetic coding material as well as a profile that differentiates it from other sub-types in terms of non-coding material. This distinction confirms that the tubulocystic sub-type is a distinct entity in molecular terms within renal cell carcinoma with its ensuing implications for the diagnosis and treatment for these patients.
The study was headed by Researcher María Armesto from the IIS Biodonostia’s Molecular Oncology Group, led by Charles Lawrie, alongside Jose Ignacio Lopez, from the IIS Biocruces Cancer Biomarkers Group.
