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A Cutaneous Vascular Neoplasm With an EWSR1-NFATC2 Translocation-Contributing to the Spectrum of Vascular Lesions
B Schurink1, A M van Huizen2, C D Savci-Heijink1
1Department of Pathology, Amsterdam University Medical Centers, the Netherlands.
Abstract:
Recently, a distinct subgroup of vascular neoplasms has been identified, characterized by NFATC-related fusions. Although existing literature is limited, these lesions histologically show a variable appearance with a tendency for local recurrence but not distant spread. Therefore, they likely fall within the "benign" or at most in the "local aggressive"/"borderline" tumor category according to the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme. Up to now, vascular tumors with NFATC-related fusions have only been documented in bone and occasionally soft tissue. We present a case of a woman with a "difficult-to-diagnose" multifocal cutaneous vascular neoplasm showing an EWSR1::NFATC2 translocation. To our knowledge, this is the first report on a vascular neoplasm with an EWSR1::NFATC2 translocation occurring in the skin.
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