SEMINAR: A single-cell comparison of rare neuroendocrine tumours with the foetal adrenal medulla

Image for SEMINAR: A single-cell comparison of rare neuroendocrine tumours with the foetal adrenal medulla

BLAKE BOWEN
Research Assistant
Rare Disease Oncogenomics Laboratory
University of Melbourne Centre for Cancer Research 

Phaeochromocytoma (PC) and Paraganglioma (PG) are rare, heritable and genetically diverse neuroendocrine tumours that originate from the adrenal medulla or extra-adrenal paraganglia, respectively. While most of these tumours are benign, the 10-20% of PCPG that metastasise pose a significant clinical challenge due to a lack of curative treatments or clinically recognised predictive biomarkers. Analysis of PCPG transcriptomes has demonstrated variable expression of sympathoadrenal development genes, reflecting differing states of cellular differentiation or developmental origin between subtypes.

A cohort of 30 PCPG representing 13 driver genes and two normal adrenal controls were profiled with single-nuclei (sn)RNA-seq to further resolve PCPG subtypes and dissect subtype-specific transcriptional patterns.

Blake will present a comparison of this PCPG cohort with published foetal adrenal snRNA-seq data. These analyses confirm chromaffin cells as the cell of origin for PCPG and highlight distinct cellular programs and developmental genes in PCGP subtypes that may represent promising diagnostic or therapeutic biomarkers.

Blake Bowen completed his undergraduate degree in Science (Genetics) at the University of Melbourne. In 2020, he completed his Honours year with the Rare Disease Oncogenomics (RADIO) laboratory at the UMCCR under the supervision of Associate Professor Richard Tothill. For Honours, Blake completed a bioinformatics-based project, studying TERT mutations in metastatic rare neuroendocrine tumours using single nuclei ATAC-sequencing. He was awarded the J.E. Taylor Honours Award for the top cancer-themed research project in the Department of Clinical Pathology. Currently, Blake is a Research Assistant with the RADIO lab, continuing his work researching rare neuroendocrine tumours with single cell and bulk genomics.