A Matched Molecular and Clinical Analysis of the Epithelioid Haemangioendothelioma Cohort in the Stafford Fox Rare Cancer Program and Contextual Literature Review

A Abdelmogod; L Papadopoulos; S Riordan; M Wong; M Weltman; R Lim; C McEvoy; A Fellowes; S Fox; J Bedő; J Penington; K Pham; O Hofmann; JHA Vissers; S Grimmond; G Ratnayake; M Christie; C Mitchell; WK Murray; K McClymont; P Luk; AT Papenfuss; D Kee; CL Scott; D Goldstein; HE Barker

Journal article

A Matched Molecular and Clinical Analysis of the Epithelioid Haemangioendothelioma Cohort in the Stafford Fox Rare Cancer Program and Contextual Literature Review

A Abdelmogod, L Papadopoulos, S Riordan, M Wong, M Weltman, R Lim, C McEvoy, A Fellowes, S Fox, J Bedő, J Penington, K Pham, O Hofmann, JHA Vissers, S Grimmond, G Ratnayake, M Christie, C Mitchell, WK Murray, K McClymont Show all

Cancers | MDPI | Published : 2023

DOI: 10.3390/cancers15174378

Abstract

Background: Epithelioid haemangioendothelioma (EHE) is an ultra-rare malignant vascular tumour with a prevalence of 1 per 1,000,000. It is typically molecularly characterised by a WWTR1::CAMTA1 gene fusion in approximately 90% of cases, or a YAP1::TFE3 gene fusion in approximately 10% of cases. EHE cases are typically refractory to therapies, and no anticancer agents are reimbursed for EHE in Australia. Methods: We report a cohort of nine EHE cases with comprehensive histologic and molecular profiling from the Walter and Eliza Hall Institute of Medical Research Stafford Fox Rare Cancer Program (WEHI-SFRCP) collated via nation-wide referral to the Australian Rare Cancer (ARC) Portal. The diag..

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University of Melbourne Researchers

Stephen Fox Author

Justin Bedo Author

Oliver Hofmann Author

Joep Vissers Author

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Grants

Awarded by Victorian Cancer Agency

Funding Acknowledgements

The authors thank Elizabeth Sinclair, N Lambie and Mitali Fadia. The authors also thank BioGrid Australia. This work was made possible through the Australian Cancer Research Foundation, the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. We would like to thank all of the people who participate in the Stafford Fox Rare Cancer Program.