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Related Experiment Videos

Malignant peripheral nerve sheath tumor with a t(X;18).

R Vang1, D A Biddle, W R Harrison

  • 1University of Texas Medical School, Department of Pathology and Laboratory Medicine, Houston 77030, USA.

Archives of Pathology & Laboratory Medicine
|June 3, 2000
PubMed
Summary

This study details an unusual ankle tumor in a teenage girl, presenting features of both malignant peripheral nerve sheath tumors (MPNST) and synovial sarcoma due to a unique chromosomal translocation.

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Area of Science:

  • Oncology
  • Cytogenetics
  • Pathology

Background:

  • Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive neoplasms.
  • Synovial sarcoma is characterized by a specific t(X;18) chromosomal translocation.
  • Distinguishing between MPNST and synovial sarcoma can be challenging based on histology alone.

Observation:

  • A 16-year-old female presented with an ankle tumor.
  • Histological examination revealed features typical of MPNST.
  • Cytogenetic analysis identified a variant t(X;18) translocation, usually associated with synovial sarcoma, along with an additional translocation involving chromosome 1.

Findings:

  • Immunohistochemical stains showed positivity for vimentin, CD57, collagen type IV, and Bcl-2.
  • The tumor exhibited a complex, unbalanced 3-way chromosomal translocation: t(X;18;1).

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  • Electron microscopy provided non-contributory findings.

    • Implications:

    • This case challenges current classifications, questioning whether the tumor is a synovial sarcoma with MPNST-like histology or an MPNST with a synovial sarcoma-associated translocation.
    • It suggests a potential spectrum of spindle cell tumors encompassing MPNST and synovial sarcoma.
    • Further research is needed to understand the molecular basis and classification of such hybrid or overlapping neoplasms.