Molecular diagnostics in soft tissue sarcomas and gastrointestinal stromal tumors

Stephen M. Smith, Joshua Coleman, Julia A. Bridge, O. Hans Iwenofu

Research output: Contribution to journalReview article

9 Scopus citations


Soft tissue sarcomas are rare malignant heterogenous tumors of mesenchymal origin with over fifty subtypes. The use of hematoxylin and eosin stained sections (and immunohistochemistry) in the morphologic assessment of these tumors has been the bane of clinical diagnosis until recently. The last decade has witnessed considerable progress in the understanding and application of molecular techniques in refining the current understanding of soft tissue sarcomas and gastrointestinal stromal tumors beyond the limits of traditional approaches. Indeed, the identification of reciprocal chromosomal translocations and fusion genes in some subsets of sarcomas with potential implications in the pathogenesis, diagnosis and treatment has been revolutionary. The era of molecular targeted therapy presents a platform that continues to drive biomarker discovery and personalized medicine in soft tissue sarcomas and gastrointestinal stromal tumors. In this review, we highlight how the different molecular techniques have enhanced the diagnosis of these tumors with prognostic and therapeutic implications. J. Surg. Oncol. 2015 111:520-531.

Original languageEnglish (US)
Pages (from-to)520-531
Number of pages12
JournalJournal of Surgical Oncology
Issue number5
Publication statusPublished - Apr 1 2015



  • GIST
  • molecular diagnostics
  • soft tissue sarcomas
  • treatment

ASJC Scopus subject areas

  • Surgery
  • Oncology

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