Epithelioid Hemangioendothelioma (EHE) Mimicking Mesothelioma: Case Presentation and Review

Our plain-English summary of Epithelioid Hemangioendothelioma (EHE) Mimicking Mesothelioma: Case Presentation and Review, by K. Grewal, S. Gajagowni, E. Lopez, et al (Case Reports in Oncological Medicine, 2025).

The study

• Authors: K. Grewal, S. Gajagowni, E. Lopez, K. Grewal, S.V. Nguyen
• Journal: Case Reports in Oncological Medicine
• Published: 2025;2025:9459565
• Type of article: Case report
• Cited by: 1 article, as counted by NIH iCite
• Read it: PubMed · Publisher · Free full text

Abstract

Epithelioid hemangioendothelioma (EHE) is an extremely rare vascular sarcoma that can initially present with a myriad of symptoms anywhere in the body. Imaging findings are often nonspecific, and the pathology tends to have overlap with other malignancies. As a result, it can be quite difficult to suspect and diagnose EHE. We present a case of pulmonary EHE in a 41-year-old female with left pleural thickening and subclavian tumor thrombus who was initially misdiagnosed and treated as mesothelioma. This instance demonstrates the importance of maintaining a broad differential and the utilization of repeat biopsies and next-generation sequencing for questionable diagnoses of atypical malignancies.

Copyright © 2025 Kabir Grewal et al. Case Reports in Oncological Medicine published by John Wiley & Sons Ltd.

In plain English

This case report with a literature review described a 41-year-old female nonsmoker with no known asbestos exposure who had worsening shortness of breath, flank pain and left supraclavicular swelling. Scans showed a subclavian tumor thrombus, a left pleural effusion with nodular thickening, and enlarged lymph nodes. A biopsy at an outside hospital stained positive for WT1 and calretinin. Mesothelioma was presumed, and she received one cycle of cisplatin/pemetrexed. A repeat biopsy at the authors' cancer center was negative for cytokeratin, calretinin and WT1 and positive for ERG, CD31 and nuclear CAMTA-1. Gene sequencing found a WWTR1:CAMTA-1 fusion, confirming epithelioid hemangioendothelioma (EHE), a rare vascular sarcoma. After six cycles of gemcitabine and docetaxel, imaging showed no further disease progression. The authors' review found 58 published cases of pleural EHE, of which 33 (57%) were confirmed dead. The authors concluded that repeat biopsies are useful when a diagnosis is unclear or the presentation is atypical, such as mesothelioma in a young patient without asbestos exposure, and that next-generation sequencing can help confirm the disease.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Case report of one patient, with a literature review of published cases of pleural EHE
• Who was studied: One 41-year-old female nonsmoker with no notable medical history, treated at a quaternary care cancer center in Houston, Texas (MD Anderson), plus 58 previously published cases of pleural EHE
• Exposure: No known asbestos exposure. The article concerns a tumor (EHE) that was mistaken for mesothelioma, not an asbestos exposure.
• Main results:
  • The first biopsy, at an outside hospital, stained positive for WT1 and calretinin. The tumor was presumed to be mesothelioma, and the patient received Cycle 1 of cisplatin/pemetrexed.
  • A repeat CT-guided pleural biopsy was negative for cytokeratin, calretinin and WT1, which was inconsistent with mesothelioma.
  • Repeat staining was positive for ERG, CD31 and nuclear CAMTA-1, and gene sequencing detected a WWTR1:CAMTA-1 fusion, which confirmed EHE.
  • After six cycles of gemcitabine and docetaxel, surveillance imaging showed no further disease progression. Cycle 7 was delayed because of pancytopenia.
  • Among the 58 published pleural EHE cases reviewed, 64% of patients were male and the average age at diagnosis was 50.
  • Among the 58 published cases, 33 (57%) were confirmed dead, and 22 of those 33 died within 12 months of diagnosis.
  • Among the published cases, the most common initial presentation was pleuritic chest pain (43%).
• The authors' conclusion: The authors concluded that the case shows the usefulness of repeat biopsies when the diagnosis is unclear or the presentation is atypical for the suspected disease (for example, mesothelioma in a young patient without asbestos exposure), and that next-generation sequencing can help confirm the disease.

Topics

Medical terms in this study, explained in our Lexicon: Epithelioid, Mesothelioma, Sarcoma, Pathology, Pleural Thickening, Next-Generation Sequencing (NGS).

Related studies

• Primary pleural epithelioid hemangioendothelioma mimicking as a posterior mediastinal tumor — J. Wethasinghe, J. Sood, et al. (2015)
• Malignant pleural mesothelioma mimicking the intrapulmonary growth pattern of epithelioid hemangioendothelioma — Y. Muramatsu, K. Isobe, et al. (2014)
• Epithelioid hemangioendothelioma of the pleura: clinical and radiologic features — E.J. Crotty, H.P. McAdams, et al. (2000)
• Clinicopathological characteristics of pulmonary epithelioid hemangioendothelioma: A report of four cases and review of the literature — J. Shao, J. Zhang (2014)
• CAMTA1 immunostaining is not useful in differentiating epithelioid hemangioendothelioma from its potential mimickers — Z. Yusıflı, K. Kösemehmetoğlu (2014)
• Cytologic features, immunocytochemical findings, and DNA ploidy in four rare cases of epithelioid hemangioendothelioma involving effusions — Y. Chen, A. Khanna, et al. (2018)

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