The Molecular Diagnostics of Vascular Neoplasms

Surg Pathol Clin. 2019 Mar;12(1):35-49. doi: 10.1016/j.path.2018.10.002. Epub 2018 Dec 4.

Abstract

In this review, we provide an update of the recently discovered, diagnostically significant genetic aberrations harbored by a subset of vascular neoplasms. From benign (epithelioid hemangioma, spindle cell hemangioma), to intermediate (pseudomyogenic hemangioendothelioma), to malignant (epithelioid hemangioendothelioma, angiosarcoma), each neoplasm features a mutation or gene fusion that facilitates its diagnosis by immunohistochemistry and/or molecular ancillary testing. The identification of these genetic anomalies not only assists with the objective classification and diagnosis of these neoplasms, but also serves to help recognize potential therapeutic targets.

Keywords: Molecular diagnostics; Review; Vascular neoplasms.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • DNA Mutational Analysis
  • Humans
  • Immunohistochemistry
  • Molecular Targeted Therapy
  • Mutation / genetics*
  • Pathology, Molecular / methods*
  • Vascular Neoplasms / diagnosis*
  • Vascular Neoplasms / genetics*
  • Vascular Neoplasms / pathology

Substances

  • Biomarkers, Tumor