Puberty brings on a host of physical and emotional changes that signal the transition from childhood to adolescence.
For the average Australian boy, this rush of hormones hits between the ages of 9-14 and, for some, it will trigger the development of a cancer that had been dormant in their bodies since they were a baby in the womb.
What if these undeveloped cancer cells could be detected before they form a tumour?
This question is at the heart of a new study funded by The Kids’ Cancer Project. Led by Dr Cassy Spiller, a Postdoctoral Research Fellow at University of Queensland’s School of Biomedical Sciences, this ground-breaking study focuses on the development of a non-invasive diagnostic and prognostic test for pre-malignant adolescent testicular cancer.
"Testicular cancer is a really unique disease in that it's one of only a few cancers that is seeded when a baby is in utero,” said Dr Spiller.
“The most exciting part of this research is that I can detect proteins in patients that have the pre-cancerous stem cells before they develop into tumours after puberty, and we know that early diagnosis has a huge impact on treatment options and quality of life.”
"If a 15-year-old gets testicular cancer and has to have chemotherapy, there are often damaging side effects that can last for the rest of his life - if he goes on to live a long life,” added Dr Spiller.
“In some cases, these boys will have to have both testes removed, which obviously impacts their fertility.”
A chance discovery
As a developmental reproductive biologist, Dr Spiller was researching the development of germ cells, which are the cells that go on to produce sperm in a testicle, when she made an unexpected discovery.
“By chance, I was looking for a signalling pathway that controls how the germ cells maintain their stem cell likeness, and I found a signalling pathway that was involved in keeping them in a stem cell-like state,” she explained.
"We found that in cases of testicular cancer, this particular signalling pathway was hijacked and over-expressed in cancer."
“We're now trying to exploit this finding to see if we can use the expression of these special proteins to diagnose cancer,” she said.
Dr Spiller is collaborating with researchers in Denmark and the Netherlands, where hundreds of patient samples are being tested.
“I've performed pilot assays to show that we can detect these particular proteins in the blood serum of patients and, more excitingly, in their semen,” she said.
"This means we may be able to detect a predisposition for this cancer before a malignancy occurs."
“It’s fortunate that testicular cancer has a high cure rate, especially when detected early,” said Dr Spiller.
“If a boy knows he’s predisposed to getting it, he can undergo regular checks, catch it early and potentially receive minimal treatment to avoid the long-term side-effects, depending on the subtype of cancer.”
A love of science
Dr Spiller grew up in a small farming community in New South Wales and said she had little exposure to what a career in science might look like.
As a child, she was given a second-hand microscope from a neighbour and this helped to fuel her interest in biology.
“I remember reading David Suzuki books about how the body worked,” she said. “I became fascinated with science.”
While completing her Bachelor of Science and Biotechnology at the University of Newcastle, Dr Spiller said the world of science “suddenly opened up to me”.
"I became interested in reproductive biology when I started my Honours and focused on the changes that have to happen in a sperm for it to be able to fertilise an egg."
Dr Spiller said she never expected her research would one day lead to a potentially life changing cancer diagnostic test.
“I'm really fortunate that The Kids' Cancer Project is funding my study because now I can test hundreds and hundreds of samples with my collaborators to refine the test and make it as sensitive and as as specific as it can be,” she said.
"This is not a long study, but it is going to tell us definitely whether or not this diagnostic test can be used."
“It is so satisfying to think that what I do every day can have an impact on someone else's life, or make their life better,” adds Dr Spiller.
“This particular diagnostic or prognostic test means that the quality of life of many young men should be vastly improved. I love my job and I couldn't imagine doing anything else.”