Cutaneous Hemangioma With Epithelioid Features Harboring a <i>TPM4::ALK</i> Fusion

Vascular neoplasms comprise a heterogeneous group of tumors ranging from benign to malignant, increasingly defined by recurrent gene fusions. In this report we describe a cutaneous hemangioma with epithelioid features harboring a TPM4::ALK gene fusion in a 43-year-old female. On histology, this dermal-based lesion was composed of epithelioid endothelial cells with no overt cytologic atypia and abundant cytoplasm. Immunohistochemistry showed the epithelioid cells were positive for ERG and showed diffuse intracytoplasmic ALK-1 expression. The fusion was detected via RNA sequencing, highlighting ALK as a potential oncogenic driver in this tumor. The morphology resembled epithelioid hemangioma, a benign vascular tumor known to harbor FOS gene rearrangements. This case represents the second known instance of a cutaneous hemangioma with epithelioid features and a TPM4::ALK fusion. Additional studies are needed to clarify the biological behavior and classification of these tumors within the spectrum of fusion-driven vascular neoplasms.

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Publication Details

Journal
Journal of Cutaneous Pathology
Published
2026-05-22
DOI
https://doi.org/10.1111/cup.70143
Primary Topic
Vascular Tumors and Angiosarcomas
Type
article
Field-Weighted Citation Impact
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article

Cutaneous Hemangioma With Epithelioid Features Harboring a TPM4::ALK Fusion

Norman L. Lehman, Martin P. Fernandez, Donn LaTour
Journal of Cutaneous Pathology
Vascular Tumors and Angiosarcomas
article

Cutaneous Hemangioma With Epithelioid Features Harboring a TPM4::ALK Fusion

Norman L. Lehman, Martin P. Fernandez, Donn LaTour
article en

Abstract

Vascular neoplasms comprise a heterogeneous group of tumors ranging from benign to malignant, increasingly defined by recurrent gene fusions. In this report we describe a cutaneous hemangioma with epithelioid features harboring a TPM4::ALK gene fusion in a 43-year-old female. On histology, this dermal-based lesion was composed of epithelioid endothelial cells with no overt cytologic atypia and abundant cytoplasm. Immunohistochemistry showed the epithelioid cells were positive for ERG and showed diffuse intracytoplasmic ALK-1 expression. The fusion was detected via RNA sequencing, highlighting ALK as a potential oncogenic driver in this tumor. The morphology resembled epithelioid hemangioma, a benign vascular tumor known to harbor FOS gene rearrangements. This case represents the second known instance of a cutaneous hemangioma with epithelioid features and a TPM4::ALK fusion. Additional studies are needed to clarify the biological behavior and classification of these tumors within the spectrum of fusion-driven vascular neoplasms.

Journal of Cutaneous Pathology
Baylor Scott & White Medical Center - Temple (US), Baylor Scott & White Health (US)
Openalex Percentile: Top 7%
Vascular Tumors and Angiosarcomas
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