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Intra-abdominal polyphenotypic tumor

P Thorner1

  • 1Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.

Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association
|January 1, 1996
PubMed
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The t(11;22) translocation is not always diagnostic of Ewing sarcoma or pPNET. Histologic evidence, like MIC2 staining, is crucial for accurate diagnosis of these primitive neuroectodermal tumors.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Pathology

Background:

  • The t(11;22)(q24;q12) translocation is a hallmark genetic alteration associated with Ewing sarcoma and peripheral primitive neuroectodermal tumors (pPNET).
  • This translocation is often considered diagnostic for these specific tumor types.

Observation:

  • A case of a polyphenotypic tumor presenting with the t(11;22) translocation was identified.
  • Immunohistochemical analysis revealed positivity for vimentin, desmin, low-molecular-weight keratin, neuron-specific enolase, S-100 protein, and CD57.
  • Notably, the tumor was negative for MIC2 and exhibited double-minute chromosomes with amplified MDM2 genes.

Findings:

  • The presence of the t(11;22) translocation alone is insufficient for diagnosing Ewing sarcoma or pPNET.

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  • Supporting histological evidence, such as MIC2 expression, is essential for definitive diagnosis.
  • The study suggests that the t(11;22) translocation may be acquired during tumor progression in other tumor types, not exclusively in Ewing sarcoma/pPNET.

    • Implications:

    • Diagnostic criteria for Ewing sarcoma and pPNET should incorporate both genetic and histological findings.
    • The findings challenge the assumption that the t(11;22) translocation exclusively defines Ewing sarcoma and pPNET.
    • Treatment strategies may benefit from considering tumor phenotype alongside genotype, especially in cases with conflicting profiles.