Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/33702
Title: A Matched Molecular and Clinical Analysis of the Epithelioid Haemangioendothelioma Cohort in the Stafford Fox Rare Cancer Program and Contextual Literature Review.
Austin Authors: Abdelmogod, Arwa;Papadopoulos, Lia;Riordan, Stephen;Wong, Melvin;Weltman, Martin;Lim, Ratana;McEvoy, Christopher;Fellowes, Andrew;Fox, Stephen;Bedő, Justin;Penington, Jocelyn;Pham, Kym;Hofmann, Oliver;Vissers, Joseph H A;Grimmond, Sean;Ratnayake, Gayanie;Christie, Michael;Mitchell, Catherine;Murray, William K;McClymont, Kelly;Luk, Peter;Papenfuss, Anthony T;Kee, Damien ;Scott, Clare L;Goldstein, David;Barker, Holly E
Affiliation: Limestone Coast Local Health Network, Flinders University, Bedford Park, SA 5042, Australia.
Eastern Health Clinical School, Monash University, Box Hill, VIC 3128, Australia.
Prince of Wales Clinical School, University of NSW, Randwick, NSW 2031, Australia.;Gastrointestinal and Liver Unit, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
Radiology Department, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
Department of Gastroenterology, Nepean Hospital, Kingswood, NSW 2747, Australia.
Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.
The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
Centre for Cancer Research and Department of Clinical Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.
The Royal Melbourne Hospital, Parkville, VIC 3052, Australia.
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.
Sullivan Nicolaides Pathology, Brisbane, QLD 4000, Australia.
Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Department of Gastroenterology, Nepean Hospital, Kingswood, NSW 2747, Australia.;Sir Peter MacCallum Cancer Centre, Department of Oncology, University of Melbourne, Parkville, VIC 3000, Australia.
The Australian Rare Cancer Portal, BioGrid, Parkville, VIC 3051, Australia.
The Royal Womens' Hospital, Parkville, VIC 3052, Australia.
The Australian Rare Cancer Portal, BioGrid, Parkville, VIC 3051, Australia.
Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia.
Nelune Center, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
Austin Health
Sir Peter MacCallum Cancer Centre, Department of Oncology, University of Melbourne, Parkville, VIC 3000, Australia.;Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia.;Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC 3010, Australia.
Issue Date: 1-Sep-2023
Date: 2023
Publication information: Cancers 2023-09-01; 15(17)
Abstract: 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. 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 diagnoses of EHE were confirmed by histopathological and immunohistochemical (IHC) examination. Molecular profiling was performed using the TruSight Oncology 500 assay, the TruSight RNA fusion panel, whole genome sequencing (WGS), or whole exome sequencing (WES). Molecular analysis of RNA, DNA or both was possible in seven of nine cases. The WWTR1::CAMTA1 fusion was identified in five cases. The YAP1::TFE3 fusion was identified in one case, demonstrating unique morphology compared to cases with the more common WWTR1::CAMTA1 fusion. All tumours expressed typical endothelial markers CD31, ERG, and CD34 and were negative for pan-cytokeratin. Cases with a WWTR1::CAMTA1 fusion displayed high expression of CAMTA1 and the single case with a YAP1::TFE3 fusion displayed high expression of TFE3. Survival was highly variable and unrelated to molecular profile. This cohort of EHE cases provides molecular and histopathological characterisation and matching clinical information that emphasises the molecular patterns and variable clinical outcomes and adds to our knowledge of this ultra-rare cancer. Such information from multiple studies will advance our understanding, potentially improving treatment options.
URI: https://ahro.austin.org.au/austinjspui/handle/1/33702
DOI: 10.3390/cancers15174378
ORCID: 0000-0003-0435-6824
0000-0001-5596-9511
0000-0002-9350-5520
Journal: Cancers
PubMed URL: 37686662
Type: Journal Article
Subjects: ARC Portal
SFRCP
TAZ
YAP
biomarker
epithelioid haemangioendothelioma
fusion genes
genomics
histopathology
rare cancer
Appears in Collections:Journal articles

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