A one size fits all approach doesn’t work for rare cancers

Neuroendocrine tumours (NETs) are a complex group of rare cancers that can grow from any part of the body. They originate from neuroendocrine cells whose key function is to produce a variety of hormones that work together to support our body’s day-to-day function.

According to the not-for-profit consumer group NeuroEndocrine Cancer Australia, the most common sites for these types of cancer to form are in the digestive system – predominantly the large bowel and appendix, small intestine, pancreas and lungs.

NETs affect up to 16 in 100,000  people and, when caught early, can often be cured with surgery. But many patients are not diagnosed until this cancer has spread to other parts of the body because of non-specific symptoms that can be mistaken for other common health issues such as irritable bowel syndrome (IBS) and menopause. Because of these non-specific symptoms it can take years for a person to be diagnosed with NET and, by then, more than half of those affected have widespread metastatic and incurable disease.

Dr Emma Boehm is an Endocrinologist and Nuclear Medicine Fellow at Peter MacCallum Cancer Centre – a certified Centre of Excellence for the complex care required for NET patients. Dr Boehm is part of a multidisciplinary team including nuclear medicine doctors who interpret PET scans and give targeted intravenous radiation therapy to treat NET patients; oncologists, who are NET cancer specialists; endocrinologists, who help control symptoms of excessive hormones made by NETs, and NET nurse specialists who provide invaluable support to patients. Every NET patient is different and requires a precision approach to their care.

Dr Boehm, a PhD candidate in the Rare Disease Oncogenomics Laboratory led by Associate Professor Richard Tothill, at the University of Melbourne, is passionate about translational research to improve NET patient care. Her research involves investigating new tests looking at NET genomics – the DNA changes that drive cancer growth – to better diagnose NETs and predict how aggressive the cancer will be.

Dr Emma Boehm and Associate Professor Richard Tothill.

“I want to understand the DNA changes that lead to the development of neuroendocrine cancer in order to make tests of cancer DNA that can be used in clinic to accurately diagnose the type of NET and provide information to help decide what the best treatment will be,” says Dr Boehm.

She is particularly interested in learning more about how to treat a rare type of NET arising from the the adrenal gland called phaeochromocytoma.

“The adrenal gland produces our stress hormones. When NETs of the adrenal gland develop, they become factories making too much adrenaline – the fight or flight hormone. People with this NET feel constantly under threat, agitated, their blood pressure is through the roof and this can cause their heart to fail,” she says.

Guided by phaeochromocytoma NET expert A/Prof Tothill, Dr Boehm’s PhD research involves developing a liquid biopsy test, which is a blood test to detect the corrupt cancer DNA released by the NET into the bloodstream.

“It’s often not possible to obtain neuroendocrine tumour tissue samples for testing, especially in cases where the cancer has spread and there is no benefit of surgery for the patient. Additionally, taking a piece of NET tissue out using a biopsy can be dangerous for some NET patients because of the risk of causing a life-threatening hormone flare,” says Dr Boehm.

“Our research is looking at whether neuroendocrine tumours release detectable DNA into the blood that we can analyse to understand the type of cancer and the best treatment for that cancer. This kind of information could be used to prescribe targeted precision treatment, such as a specific drug that would be more effective.

“People with rare cancers cannot have a one size fits all approach. We need a deep understanding of the individual’s cancer biology to be able to understand what makes the cancer tick and to tailor treatment so people with NET can live longer and better lives.”