Medicine and Health Sciences Commons^™

Analysis Of Circulating Tumour Cells In Early-Stage Uveal Melanoma: Evaluation Of Tumour Marker Expression To Increase Capture, Aaron B. Beasley, Timothy W. Isaacs, Tersia Vermeulen, James Freeman, Jean-Louis De Sousa, Riyaz Bhikoo, Doireann Hennessy, Anna Reid, Fred K. Chen, Jacqueline Bentel, Daniel Mckay, R. Max Conway, Michelle R. Pereira, Bob Mirzai, Leslie Calapre, Wendy N. Erber, Melanie R. Ziman, Elin S. Gray

Research outputs 2014 to 2021

Background:

The stratification of uveal melanoma (UM) patients into prognostic groups is critical for patient management and for directing patients towards clinical trials. Current classification is based on clinicopathological and molecular features of the tumour. Analysis of circulating tumour cells (CTCs) has been proposed as a tool to avoid invasive biopsy of the primary tumour. However, the clinical utility of such liquid biopsy depends on the detection rate of CTCs.

Methods:

The expression of melanoma, melanocyte, and stem cell markers was tested in a primary tissue microarray (TMA) and UM cell lines. Markers found to be highly expressed in primary …

Comparison Of Circulating Tumour Dna And Extracellular Vesicle Dna By Low-Pass Whole-Genome Sequencing Reveals Molecular Drivers Of Disease In A Breast Cancer Patient, Olivia Ruhen, Bob Mirzai, Michael E. Clark, Bella Nguyen, Carlos Salomon, Wendy Erber, Katie Meehan

Research outputs 2014 to 2021

© 2020 by the authors. Licensee MDPI, Basel, Switzerland. There is increasing recognition of circulating tumour DNA (ctDNA) as a non-invasive alternative to tumour tissue for the molecular characterisation and monitoring of disease. Recent evidence suggests that cancer-associated changes can also be detected in the DNA contained within extracellular vesicles (EVs). As yet, there has been limited investigation into the relationship between EV DNA and ctDNA, and no studies have examined the EV DNA of breast cancer patients. The aim of this study was to use low-pass whole-genome sequencing to identify copy number variants (CNVs) in serial samples of both …

Circulating Tumor Dna Reflects Uveal Melanoma Responses To Protein Kinase C Inhibition, John J. Park, Russell J. Diefenbach, Natalie Byrne, Georgina V. Long, Richard A. Scolyer, Elin S. Gray, Matteo S. Carlino, Helen Rizos

Research outputs 2014 to 2021

The prognosis for patients with UM is poor, and recent clinical trials have failed to prolong overall survival (OS) of these patients. Over 95% of UM harbor activating driver mutations, and this allows for the investigation of ctDNA. In this study, we investigated the value of ctDNA for adaptive clinical trial design in metastatic UM. Longitudinal plasma samples were analyzed for ctDNA in 17 metastatic UM patients treated with PKCi-based therapy in a phase 1 clinical trial setting. Plasma ctDNA was assessed using digital droplet PCR (ddPCR) and a custom melanoma gene panel for targeted next generation sequencing (NGS). Baseline …