A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion Journal Article
| Authors: | Linos, K.; Chang, J. C.; Busam, K. J. |
| Article Title: | A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion |
| Abstract: | Substantial progress has been made in understanding the molecular pathways associated with vascular tumors over the last two decades. In addition to mutations and copy number aberrations, fusions have emerged as significant contributors to the pathogenesis of a notable subset of vascular tumors. In this report, we present a case of an unusual intradermal vascular tumor with epithelioid cytomorphology. Immunohistochemistry revealed diffuse positivity for CD31, ERG and Factor VIII, supporting its endothelial lineage. RNA sequencing (ArcherFusion Plex) revealed the presence of an in-frame fusion between the genes TPM3 Exon 8 and ALK Exon 20. Immunohistochemistry confirmed ALK expression by the endothelial cells. To our knowledge, this is the first documented case of a vascular tumor harboring an ALK fusion. It may fall within the spectrum of epithelioid hemangiomas; nevertheless, we cannot definitively exclude the possibility of it being a distinct and potentially unique benign entity on its own. © 2023 Wiley Periodicals LLC. |
| Keywords: | immunohistochemistry; adult; clinical article; human tissue; young adult; human cell; exon; genetics; histopathology; case report; vascular neoplasms; gene expression; skin neoplasms; pathology; endothelium cell; skin; endothelial cells; skin tumor; fusion gene; vascular tumor; vascular; hemangioma; alk; blood clotting factor 8; anaplastic lymphoma kinase; epithelioid; superficial; tropomyosin; cd34 antibody; humans; human; male; article; rna sequencing; epithelioid hemangioma; tpm3 protein, human; platelet endothelial cell adhesion molecule 1 |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 63 |
| Issue: | 1 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2024-01-01 |
| Start Page: | e23207 |
| Language: | English |
| DOI: | 10.1002/gcc.23207 |
| PUBMED: | 37787425 |
| PROVIDER: | scopus |
| PMCID: | PMC10842594 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record and PDF. Corresponding MSK author is Konstantinos Linos -- Source: Scopus |
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