Studying “rare and unusual” forme fruste tumours may not seem like the most obvious way to advance cancer research, but pathologist Dr. David Huntsman’s work is revolutionizing the way both rare - and common - cancers are being diagnosed and treated.
Dr. David Huntsman, principal investigator on the Terry Fox Program Project Grant on Forme Fruste tumours.
“Whenever there’s been a big technological or intellectual leap forward, a disproportionate amount has always been learned from studying rare diseases,” said Dr. Huntsman, principal investigator of the project. “The study of rare cancers has directly impacted the way we study more common cancers.”
Dr. Huntsman and his British Columbia-based team are using genomics to “decode” different forme fruste tumours, specifically rare uterine, ovarian, and sarcoma cancers. These tumours are ideal for research because they are clinically and pathologically homogenous, says Dr. Huntsman.
“The study of forme fruste tumours can inform the whole cancer problem,” said Dr. Huntsman. “The advantage being that each feature you study is in pure form.”
Rare cancers can pose an immense challenge for both patients and practitioners given the extremely low prevalence of each individual disease.
“Often these are orphan diseases where there are no rational diagnostics or treatments,” said Dr. Huntsman. “There is a great need to make progress for the patients themselves, and their families. These cancers can be devastating.”
Dr. Huntsman and his team are using a “reverse engineering” approach to find the specific alteration in the DNA that causes the cancerous behaviour. The team has already found that a type of endometrial sarcoma, or cancer of the uterus, is characterized by a specific mutation. This discovery has “redefined the disease” – one year after the results were published it is already considered the new standard diagnostic for this type of cancer.
“[The mutation] can immediately become a diagnostic which you can use,” said Dr. Huntman. “And it also can become a monitoring tool to show us what direction we need to go to develop new drugs for this cancer. ”
His team’s rapid progress would not be possible without the grant from the Terry Fox Research Institute, Dr. Huntsman adds.
“We are deeply grateful for the opportunity that the grant presents,” said Dr. Hunstman. “It’s already changed the way that several cancers are considered, diagnosed and treated – and we look forward to making even more progress.”