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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
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.
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).
- 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.