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Newcomers in Vascular Anomalies.

Alyaa Al-Ibraheemi1

  • 1Department of Pathology, Boston Children's Hospital, 300 Longwood Avenue, BCH 3027, Boston, MA 02115, USA.

Surgical Pathology Clinics
|November 13, 2020
PubMed
Summary

Vascular anomalies, including tumors and malformations, are often misdiagnosed due to overlapping features. This review details the pathology and genetics of recently identified vascular anomalies to improve accurate classification.

Area of Science:

  • Pathology
  • Vascular Biology
  • Genetics

Background:

  • Vascular anomalies encompass tumors and malformations with shared histologies, leading to frequent misdiagnosis and imprecise terminology.
  • These lesions are prevalent, affecting approximately 4.5% of the population, and are typically identified in infancy or childhood.
  • Vascular tumors exhibit rapid postnatal growth and endothelial proliferation, contrasting with malformations, which result from developmental errors with stable endothelial turnover.

Purpose of the Study:

  • To review the pathologic and molecular genetic characteristics of recently described vascular anomalies.
  • To provide clarity on the classification and understanding of complex vascular lesions.
  • To aid in the accurate diagnosis and management of vascular anomalies.

Main Methods:

Keywords:
FAVAHemangiomaLymphangiomatosisOvergrowthPROSVascular anomalies

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  • Review of literature on recently described vascular anomalies.
  • Analysis of pathologic features and molecular genetic data.
  • Synthesis of information on classification and diagnostic criteria.

Main Results:

  • Detailed review of select recently identified vascular anomalies.
  • Elucidation of distinct pathologic and molecular genetic profiles.
  • Improved understanding of the differences between vascular tumors and malformations.

Conclusions:

  • Accurate diagnosis of vascular anomalies requires understanding their diverse pathologic and molecular genetic underpinnings.
  • Recent advances offer new insights into the classification of these lesions.
  • Further research into molecular genetics will refine diagnostic accuracy and therapeutic strategies.