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Array CGH analysis identifies two distinct subgroups of primary angiosarcoma of bone.

Sofie L J Verbeke1, Danielle de Jong, Franco Bertoni

  • 1Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

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This study reveals two distinct genetic profiles in angiosarcoma, identifying common amplifications in bone and soft tissue tumors. MYC amplification is found in primary angiosarcoma, challenging previous assumptions about its specificity.

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Biology

Background:

  • Molecular genetic studies on vascular tumors, particularly angiosarcomas, are limited.
  • Recent research suggests MYC and KDR gene involvement in a subset of soft tissue angiosarcomas.

Purpose of the Study:

  • To perform cytogenetic analysis on primary angiosarcomas of bone and soft tissue.
  • To identify common genetic aberrations and candidate genes involved in angiosarcoma development.
  • To investigate potential differences and overlaps in tumorigenesis between bone and soft tissue angiosarcomas.

Main Methods:

  • High-density array-comparative genomic hybridization (array-CGH) for cytogenetic analysis.
  • Fluorescence in situ hybridization (FISH) for validation of amplified regions.
  • Immunohistochemistry to assess expression of candidate genes (MYC, KDR, SKI, MAPK9).

Main Results:

  • Two distinct cytogenetic subgroups identified: complex genetic profiles versus few aberrations.
  • Common chromosomal amplifications found at 2q and 17q in both bone and soft tissue angiosarcomas.
  • High expression of MYC, MAPK9, and SKI observed; MYC amplification present in primary angiosarcoma.

Conclusions:

  • Angiosarcomas exhibit diverse genetic profiles, with distinct subgroups based on chromosomal aberrations.
  • Amplification of 2q and 17q suggests shared tumorigenic pathways in angiosarcomas regardless of location.
  • MYC amplification in primary angiosarcoma indicates it is not exclusive to radiation-induced cases.