Looking under the bonnet of challenging cancer diagnoses using genomics: the COLUMN-Pathologist-Initiated study
In this talk, Joep Vissers, Owen Prall and Catherine Mitchell present a unique pathologist-initiated project, employing whole genome and transcriptome sequencing to inform precision diagnosis of cancers that could not be classified by conventional methods.
Dr Joep Vissers
Curation Scientist Team Leader
UMCCR
Dr Owen Prall and Dr Catherine Mitchell
Anatomical Pathologists
Peter MacCallum Cancer Centre
Despite continuous advances in cancer pathology, defining the diagnostic classification of some cancers remains a significant challenge. This presents a strong barrier to optimal care. However, there is a growing appreciation that the genetic alterations in tumours are diagnostically informative, providing independent guidance in classification of diagnostic conundrums.
The Cancer Of Low sUrvival and unMet Need (COLUMN) program offers whole genome and transcriptome sequencing (WGTS) of challenging cancers. The COLUMN-Pathologist-Initiated sub-study tests the utility of WGTS in informing diagnosis of tumours for which the primary site is known but that are difficult to classify. An initial cohort of 50 patient samples will be sequenced. In this talk, the team present a preliminary analysis of the first 33 sequenced cases.
Dr Joep Vissers is a cancer researcher who has trained and worked in the Netherlands, USA and Australia. In his career, Joep has undertaken biochemical studies of DNA repair and the DNA damage response, investigated the genetics of growth and cellular identity and examined the role of the Hippo signalling pathway in the asbestos-related cancer, malignant mesothelioma. In 2018, Joep commenced a position as genome curation scientist in the University of Melbourne Centre for Cancer Research, where he has led the curation team since 2021.
Dr Owen Prall has been an Anatomical Pathologist at Peter Mac since 2014. For his PhD he studied the cell biology and biochemistry of estrogen-dependent proliferation of breast cancer cells, and performed post-doctoral work on the genetics and molecular biology of embryonic heart development and cardiac stem cells.
Dr Catherine Mitchell is an Anatomical Pathologist at the Peter MacCallum Cancer Centre, with over 15 years experience in reporting surgical specimens. She is particularly interested in tumour pathology, with areas of interest including soft tissue, genitourinary and gastrointestinal pathology.