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Understanding the enemy

Victor E Velculescu1, Luis A Diaz

  • 1Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21287, USA. velculescu@jhmi.edu

Science Translational Medicine
|September 3, 2011
PubMed

Insights

Scientists identified a specific genetic alteration defining epithelioid hemangioendothelioma (EHE), a rare vascular cancer. This discovery of an EHE-associated fusion gene may improve cancer diagnosis and lead to new targeted therapies.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Epithelioid hemangioendothelioma (EHE) is a rare vascular cancer.
  • Genetic alterations are increasingly important for cancer diagnosis and treatment.

Purpose of the Study:

  • To identify a disease-defining genetic alteration in epithelioid hemangioendothelioma (EHE).
  • To characterize the molecular consequences of this genetic alteration.

Main Methods:

  • Genetic analysis of EHE tumors.
  • Molecular characterization of the identified fusion gene.

Main Results:

  • A specific genetic alteration defining EHE was identified.
  • This alteration results in an EHE-associated fusion gene.
  • The fusion gene encodes an aberrantly expressed putative transcription factor.

Conclusions:

  • The identified genetic alteration is disease-defining for EHE.
  • This molecular information aids in EHE diagnosis.
  • The findings may facilitate the development of targeted therapies for EHE.

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