# Epithelioid Hemangioendothelioma With a Novel Chromosomal Deletion and an Aggressive Clinical Course: A Case Report and Literature Review

**Authors:** Danielle C. Thor, Nowair Hussain, Ada Baisre de Leon

PMC · DOI: 10.1155/crom/3387413 · Case Reports in Oncological Medicine · 2026-02-27

## TL;DR

A 59-year-old woman with aggressive epithelioid hemangioendothelioma showed a novel chromosomal deletion, contributing to a rare cancer's limited understanding.

## Contribution

The paper reports a novel chromosomal deletion at 16q24 associated with an aggressive epithelioid hemangioendothelioma case.

## Key findings

- A novel deletion at Chromosome 16q24 was identified in all analyzed cells of an aggressive EHE case.
- The patient's disease was refractory to multiple therapies, indicating a more aggressive clinical course.
- The case contributes new genetic insight to the limited understanding of epithelioid hemangioendothelioma.

## Abstract

Epithelioid hemangioendothelioma (EHE) is a rare neoplastic process arising from the endothelial lining of virtually any blood vessel, with varying degrees of metastatic spread. In the following case report, the clinical course and treatment stratification are detailed for a 59‐year‐old female who originally presented with cervical radiculopathy and was found to have aggressive‐type EHE refractory to multiple lines of therapy. In doing so, a novel deletion of the long arm of Chromosome 16 at Position 24, in all cells analyzed, ISCN Karyotype: 46,XX,del(16)(q24)[10] is also identified and may contribute to a more aggressive disease presentation. Ultimately, further scientific contribution is provided by this report to the otherwise limited understanding of this unique malignancy.

## Linked entities

- **Diseases:** epithelioid hemangioendothelioma (MONDO:0015523)

## Full-text entities

- **Genes:** MAP2K7 (mitogen-activated protein kinase kinase 7) [NCBI Gene 5609] {aka JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7}, TFE3 (transcription factor binding to IGHM enhancer 3) [NCBI Gene 7030] {aka MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33}, CD34 (CD34 molecule) [NCBI Gene 947], PECAM1 (platelet and endothelial cell adhesion molecule 1) [NCBI Gene 5175] {aka CD31, CD31/EndoCAM, GPIIA', PECA1, PECAM-1, endoCAM}, CAMTA1 (calmodulin binding transcription activator 1) [NCBI Gene 23261] {aka CANPMR, CECBA}, FLI1 (Fli-1 proto-oncogene, ETS transcription factor) [NCBI Gene 2313] {aka BDPLT21, EWSR2, FLI-1, SIC-1}, MTOR (mechanistic target of rapamycin kinase) [NCBI Gene 2475] {aka FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS}
- **Diseases:** wrist drop (MESH:D020425), respiratory failure (MESH:D012131), hypoxic (MESH:D002534), organ dysfunction (MESH:D009102), Bell's Palsy (MESH:D020330), sarcoma (MESH:D012509), pain (MESH:D010146), disease (MESH:D004194), prostate cancer (MESH:D011471), radiculopathy (MESH:D011843), multiple myeloma (MESH:D009101), chromosomal abnormality (MESH:D002869), Cancer (MESH:D009369), mediastinal and hilar lymphadenopathy (MESH:D008477), breast cancers (MESH:D001943), carpal tunnel syndrome (MESH:D002349), necrosis (MESH:D009336), endometrial cancer (MESH:D016889), metastases (MESH:D009362), humeral lesion (MESH:D006810), weight loss (MESH:D015431), EHE (MESH:D018323), infection (MESH:D007239), sarcoidosis (MESH:D012507)
- **Chemicals:** trametinib (MESH:C560077), diclofenac (MESH:D004008), oxygen (MESH:D010100), acetaminophen (MESH:D000082), tizanidine (MESH:C023754), sirolimus (MESH:D020123), docetaxel (MESH:D000077143), gemcitabine (MESH:D000093542), doxorubicin (MESH:D004317), naproxen (MESH:D009288), pazopanib (MESH:C516667), lenalidomide (MESH:D000077269)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12947769/full.md

## References

23 references — full list in the complete paper: https://tomesphere.com/paper/PMC12947769/full.md

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Source: https://tomesphere.com/paper/PMC12947769