Researchers discover new gene mutation to improve diagnosis and treatment of salivary gland cancer

TORONTO, Oct. 29, 2014 /CNW/ - Dr. Tom Hudson, President and Scientific Director of the Ontario Institute for Cancer Research (OICR), today announced researchers at OICR, University Health Network (UHN) and Memorial Sloan Kettering Cancer Center (MSKCC) have identified a specific gene called PRKD1 that is mutated in the vast majority of patients with a specific type of oral salivary gland cancer. The new finding gives doctors a new target for a type of cancer that was previously difficult to diagnose with accuracy. Because it is a simple molecular test, pathologists can begin incorporating it into routine clinical testing for the disease immediately.  

Until now it has been very difficult to differentiate between types of salivary gland cancers, some of which require very different forms of treatment. Treatment options for patients with salivary gland cancer include surgery, radiation and chemotherapy.

"There are hundreds or thousands of types of cancer and understanding which underlying mutations are driving cancer growth is extremely valuable in helping accurately differentiate these cancers from one another and in treating each specific form of the disease," said Dr. Hudson. "This finding provides an improved way of diagnosing a form of cancer that is rare but treatable when found at an early stage."

"What makes this finding most valuable is just how prevalent this gene mutation is for this type of cancer," said Dr. Paul Boutros, Principal Investigator at the Ontario Institute for Cancer Research. "It appears in over 70 per cent of cases, whereas the most frequent known mutations in prostate cancer appear in only five to 10 per cent of cases. This discovery allows us to take a tumour type that was basically uncharacterized very far down the path of characterizing it, giving patients and their doctors much clearer direction for diagnosis and treatment." 

"This study illustrated the importance of sequencing rare histologic tumour types, as we were able to find a new cancer gene by analyzing only a limited number of samples," said Dr. Jorge Reis-Filho, Member, Department of Pathology, and Affiliated Member, Human Oncology and Pathogenesis Program at MSKCC.

"This important discovery continues to prove that Ontario is at the forefront of medical research," said Reza Moridi, Minister of Research and Innovation. "Our province is renowned and respected around the world for our relentless pursuit of new advancements and innovations in cancer research. Congratulations to the Ontario Institute for Cancer Research and the University Health Network on this latest research milestone."    

The study was jointly conceived by Principal Investigators at OICR (Drs. Paul Boutros and John McPherson), UHN (Drs. Ilan Weinreb and Blaise Clarke) and MSKCC (Drs. Britta Weigelt and Jorge Reis-Filho). Parallel work on sequencing and analysis to identify the candidate gene was performed by investigators at OICR and MSKCC, while UHN investigators performed the detailed characterization of the salivary gland cancers and overall coordination of the study. Validation of the gene mutation was performed at UHN and MSKCC, while functional work was performed at OICR (protein structure analysis) and MSKCC (functional in vitro studies). 

PRKD1 has not previously been implicated in or shown to be mutated in cancer. The gene mutation is also potentially a target for new therapeutics.

About OICR

OICR is an innovative cancer research and development institute dedicated to prevention, early detection, diagnosis and treatment of cancer. The Institute is an independent, not-for-profit corporation, supported by the Government of Ontario. OICR's research supports more than 1,700 investigators, clinician scientists, research staff and trainees located at its headquarters and in research institutes and academia across the Province of Ontario. OICR has key research efforts underway in small molecules, biologics, stem cells, imaging, genomics, informatics and bio-computing. For more information, please visit the website at www.oicr.on.ca.

SOURCE: Ontario Institute for Cancer Research

Ontario Institute for Cancer Research: Christopher Needles, Manager, Strategic Communications, Email: [email protected], Telephone: [phone], Mobile: [phone], @OICR_news