Primary epithelioid hemangioendothelioma of the eyelid: A case report

Chen, Lijiang; Han, Feng; Yang, Junjie; Huang, Bin; Liu, Huan

doi:10.3892/ol.2022.13518

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…A review of the literature for EHE between 1984 and 2022 in PubMed, using EHE as a search criterion, revealed approximately 1800 reviews, case reports and retrospective studies. The results that discussed EHE mimics were considered irrelevant and were excluded from this paper [4,5,31,32,[61][62][63][64][65][66][67][68][69][70]. We have reported on the first Australian cohort of nine patients with EHE and delineate histologic and molecular features, clinical details and long-term follow up.…”

Section: Discussionmentioning

confidence: 99%

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

Abdelmogod,

Papadopoulos,

Riordan

et al. 2023

Cancers

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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 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). Results: 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. Conclusions: 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.

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Section: Discussionmentioning

confidence: 99%

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

Abdelmogod,

Papadopoulos,

Riordan

et al. 2023

Cancers

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А very rare cutaneous epithelioid hemangioendothelioma in the right auricle on a male adult

Filipovic,

Videnovic

et al. 2024

Srp Arh Celok Lek

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Introduction. Epithelioid hemangioendothelioma is an extremely rare tumor of vascular origin, which mainly affects soft tissues, and in rare cases, also affects the skin. Case outline. A 71-year-old man came for an examination due to a tumor localized on the antihelix of the right ear. A radical excision of the tumor and reconstruction of the defect with a preauricular transposition tunnelized Banner flap was performed. Conclusion. Epithelial hemangioendothelioma of the skin is an extremely rare, vascular tumor. It is characterized by local aggression, the appearance of local recurrences and metastatic hematogenous and lymphogenic spread. Standard dermoscopic examination of this tumor is not important. The appearance of the tumor itself has no clinical specificity, and most often resembles nodular basal cell carcinoma. An early visit to the doctor and removing the change early are the key to success in treating this tumor. So far, no case has been reported that is localized on the antihelix of the ear. Radical surgical excision is the therapy of choice.

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Primary epithelioid hemangioendothelioma of the eyelid: A case report

Cited by 2 publications

References 14 publications

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

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

А very rare cutaneous epithelioid hemangioendothelioma in the right auricle on a male adult

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