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Fusion genes in angiomatoid fibrous histiocytoma

In English

Författare

Summary, in English

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of low malignant potential and uncertain differentiation. Only three genetically investigated cases of AFH have been reported. Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera. Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. The MITF-M transcript was not detected in either AFH, in line with the finding that the co-activator SOX10 was not expressed. Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. There is no apparent correlation between the type of fusion gene and clinicopathologic features. Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it.

Publiceringsår

2007-06-18

Språk

Engelska

Sidor

158-163

Publikation/Tidskrift/Serie

Cancer Letters

Volym

251

Issue

1

Dokumenttyp

Artikel i tidskrift

Förlag

Elsevier

Ämne

  • Cancer and Oncology
  • Medical Genetics

Nyckelord

  • Activating Transcription Factor 1
  • Base Sequence
  • Bone Neoplasms
  • Calmodulin-Binding Proteins
  • Child
  • Clavicle
  • DNA-Binding Proteins
  • Histiocytoma, Malignant Fibrous
  • Humans
  • Male
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein FUS
  • RNA-Binding Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Spinal Neoplasms
  • Spine
  • Transcription Factors
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1872-7980