Multidisciplinary Fusion: A recurrent expansive prevertebral vascular anomaly with EWSR1::NFATC2 fusion

The field of vascular anomalies has seen a rapid paradigm shift from descriptive to molecular diagnoses, with DNA-based next-generation sequencing becoming standard practice in the workup and characterization of lesions. RNA-based panels for fusion transcripts have been less utilized in the field of...

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Bibliographic Details
Published in:Journal of vascular anomalies (Philadelphia, Pa.) Pa.), 2024-09, Vol.5 (3), p.e093
Main Authors: DeMarsh, Samantha J., Siegele, Bradford, Zavaletta, Vaz, Annam, Aparna, Kulungowski, Ann M., Hill, Lauren R., Donaldson, Nathan, Nakano, Taizo A.
Format: Article
Language:English
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Summary:The field of vascular anomalies has seen a rapid paradigm shift from descriptive to molecular diagnoses, with DNA-based next-generation sequencing becoming standard practice in the workup and characterization of lesions. RNA-based panels for fusion transcripts have been less utilized in the field of vascular anomalies. We report a recurrent, infiltrative prevertebral vascular tumor negative for known somatic variants but positive for an Ewing sarcoma breakpoint region 1::nuclear factor of activated T-cells cytoplasmic 2 fusion transcript. This lesion demonstrated intermediate malignant potential with morphologic atypia, novel intraluminal endothelial growth, and atypical mitoses, which have not previously been reported. RNA-based panels for fusion transcripts may represent the next impactful evolution of molecular characterization of vascular malformations and tumors.
ISSN:2690-2702
2690-2702
DOI:10.1097/JOVA.0000000000000093