Circulating tumour DNA in phaeochromocytoma and paraganglioma: needle in a haystack?

Dr Emma Boehm
PhD Student, Rare Disease Oncogenomics (RADIO Lab), University of Melbourne Centre for Cancer Research
Endocrinologist/Nuclear Medicine Fellow, Peter MacCallum Cancer Centre

Pheochromocytoma and paraganglioma (PPGL) are rare cancers that are associated with causative heritable gene mutations in approximately 40% of cases. They develop from cells in the adrenal glands and nervous system that usually have a sensory function and that make catchecholamines (adrenaline and related hormones). Hormone-secreting tumours are relatively straightforward to diagnose if there is a high clinical suspicion as hormone levels can be measured. A significant proportion of PPGL however are “silent”: they do not make hormones and therefore do not have a reliable diagnostic blood test. This becomes particularly relevant in the screening process for carriers of high-risk germline mutations as well as in the setting of surveillance for disease recurrence after surgery.

Circulating tumour DNA (ctDNA) has the potential to be a sensitive and specific diagnostic tool for PPGL if the challenges of inherent to the disease biology including low mutational burden and low ctDNA shedding can be overcome.

Dr Emma Boehm is an endocrinologist and a nuclear medicine fellow at the Peter MacCallum Cancer Centre. She is undertaking a PhD in the Rare Disease Oncogenomics Laboratory at the University of Melbourne, led by A/Prof Richard Tothill. Emma is supported by a Melbourne Academic Centre for Health (MACH track) scholarship.  Emma’s PhD is focussed on circulating tumour DNA as a biomarker of neuroendocrine neoplasia (NEN), with a particular interest in phaeochromocytoma and paraganglioma. Emma is passionate about the overlap between endocrinology and nuclear medicine, endocrine oncology and improving access for patients with NEN to precision diagnostics, therapies and research.