Prof. Giuseppe Matullo, University of Torino; Dr Barbara Pardini, University of Torino - Italian Institute for Genomic Medicine (IIGM)
University of Torino
Bladder cancer is the most frequent malignancy of the urinary tract after prostate cancer. The high prevalence and its relapsing nature pose this cancer as an enourmous burden on health care systems. There is a pressing need for highly accurate tests to assist diagnosis and surveillance of common cancers that are very costly for the society (such as bladder cancer). The high rates of recurrences and the inaccuracy of standard detection procedures highlight the need for more efficient and less invasive technologies for BC surveillance. The current procedures are costly for the health system and are frequently associated with discomfort and urinary tract infections. No screening programs exist worldwide that allow to the discovery of the tumor in the early stage. Development of new non-invasive and clinically informative biomarkers could significantly improve the management of BC patients allowing not only to a reduction on the number of cancers in advanced stage but also a reduction in the number of cystoscopies necessary for the detection of the cancer. In the attempt to improve diagnostic accuracy and overcome the disadvantages of current diagnostic strategies, biomarkers found in easily accessible biofluids, such as urine, represent a non-invasive and promising approach.
Next generation sequencing, genomics, bioinformatics. The inventors defined a procedure to detect specific urinary miRNA signatures that can be used to distinguish at diagnosis bladder cancer cases from healthy controls. The urinary miRNA signatures detected are able to distinguish the differential subtypes of bladder cancer.
Use as panel of biomarkers for urine analyses as a screening test before cystoscopy or as an application for following up cancer patients after first diagnosis.
Lab tested on 114 urine samples from 66 bladder cancer patients and 48 healthy controls Among cases, ten were diagnosed MIBC while 56 were NMIBC (39 G1 + G2 and 17 G3). Scientific publication released. Twenty-one candidate miRNAs from the Discovery phase were validated by qPCR on the same set of BC cases and controls employed in the small RNA-seq analyses (Replica set) and on urine samples from additional 46 BC cases (43 G1 + G2 and 3 G3) and 16 controls. Ongoing a new set of cases and controls to be tested for optimization of the signature.
An European Patent Application has been filed.
1. MicroRNA profiles in urine by next-generation sequencing can stratify bladder cancer subtypes Pardini B, Cordero F, Naccarati A, Viberti C, Birolo G, Oderda M, Di Gaetano C, Arigoni M, Martina F, Calogero RA, Sacerdote C, Gontero P, Vineis P, Matullo G Oncotarget 2018 Apr 17;9(29):20658-20669. doi: 10.18632/oncotarget.25057. eCollection 2018 Apr 17
2. MicroRNA expression profiling in bladder cancer: the challenge of next-generation sequencing in tissues and biofluids Matullo G, Naccarati A, Pardini B. Int J Cancer. 2016 May 15;138(10):2334-45. doi: 10.1002/ijc.29895. Epub 2015 Nov 9. Review.