Update on selected advances in the immunohistochemical and molecular genetic analysis of soft tissue tumors

  • Khin Thway
  • Andrew L FolpeEmail author
Review and Perspectives


Although traditional morphological evaluation remains the cornerstone for the diagnosis of soft tissue tumor, ancillary diagnostic modalities such as immunohistochemistry and molecular genetic analysis are of ever-increasing importance in this field. New insights into the molecular pathogenesis of soft tissue tumors, often obtained from high-throughput sequencing technologies, has enabled significant progress in the characterization and biologic stratification of mesenchymal neoplasms, expanding the spectrum of immunohistochemical tests (often aimed towards recently discovered genetic events) and molecular genetic assays (most often fluorescence in situ hybridization and reverse transcription-polymerase chain reaction). This review discusses selected novel molecular and immunohistochemical assays with diagnostic applicability in mesenchymal neoplasms, with emphasis on diagnosis, refinement of tumor classification, and treatment stratification.


Immunohistochemistry Molecular diagnosis Sarcoma Soft tissue tumor BCOR CIC-DUX4 EWSR1 NTRK SMARCB1 SMARCA4 Pathology Genetics Targeted therapy 


Authors’ contributions

Dr Folpe contributed to the writing of manuscript and the production of the figures. Dr. Thway contributed to the writing of the manuscript.

Compliance with ethical standards

Drs. Folpe and Thway attest that this manuscript was produced in accordance with the ethical standards of the institutional research committees of Mayo Clinic and The Royal Marsden NHS Trust and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Sarcoma UnitRoyal Marsden HospitalLondonUK
  2. 2.Department of Laboratory Medicine and PathologyMayo ClinicRochesterUSA

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