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Challenges of an emerging disease: The evolving approach to diagnosing devil facial tumour disease


Espejo, C and Patchett, AL and Wilson, R and Lyons, AB and Woods, GM, Challenges of an emerging disease: The evolving approach to diagnosing devil facial tumour disease, Pathogens, 11, (1) pp. 1-12. ISSN 2076-0817 (2022) [Refereed Article]

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DOI: doi:10.3390/pathogens11010027


Devil Facial Tumour Disease (DFTD) is an emerging infectious disease that provides an excellent example of how diagnostic techniques improve as disease-specific knowledge is generated. DFTD manifests as tumour masses on the faces of Tasmanian devils, first noticed in 1996. As DFTD became more prevalent among devils, karyotyping of the lesions and their devil hosts demonstrated that DFTD was a transmissible cancer. The subsequent routine diagnosis relied on microscopy and histology to characterise the facial lesions as cancer cells. Combined with immunohistochemistry, these techniques characterised the devil facial tumours as sarcomas of neuroectodermal origin. More sophisticated molecular methods identified the origin of DFTD as a Schwann cell, leading to the Schwann cell-specific protein periaxin to discriminate DFTD from other facial lesions. After the discovery of a second facial cancer (DFT2), cytogenetics and the absence of periaxin expression confirmed the independence of the new cancer from DFT1 (the original DFTD). Molecular studies of the two DFTDs led to the development of a PCR assay to differentially diagnose the cancers. Proteomics and transcriptomic studies identified different cell phenotypes among the two DFTD cell lines. Phenotypic differences were also reflected in proteomics studies of extracellular vesicles (EVs), which yielded an early diagnostic marker that could detect DFTD in its latent stage from serum samples. A mesenchymal marker was also identified that could serve as a serum-based differential diagnostic. The emergence of two transmissible cancers in one species has provided an ideal opportunity to better understand transmissible cancers, demonstrating how fundamental research can be translated into applicable and routine diagnostic techniques.

Item Details

Item Type:Refereed Article
Keywords:DFTD, laboratory diagnosis, transmissible cancer, histopathology, proteomics, bioinformatics, extracellular vesicles
Research Division:Biomedical and Clinical Sciences
Research Group:Immunology
Research Field:Tumour immunology
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biological sciences
UTAS Author:Espejo, C (Mrs Camila Espejo)
UTAS Author:Patchett, AL (Dr Amanda Patchett)
UTAS Author:Wilson, R (Dr Richard Wilson)
UTAS Author:Lyons, AB (Associate Professor Bruce Lyons)
UTAS Author:Woods, GM (Professor Gregory Woods)
ID Code:154958
Year Published:2022
Deposited By:Menzies Institute for Medical Research
Deposited On:2023-01-20
Last Modified:2023-01-20

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