Cytologic diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor with paired prospective molecular genetic analysis

The current results demonstrated that molecular genetic techniques can provide clinically useful ancillary information for fine-needle aspiration specimens when cytologic features and/or immunophenotype are equivocal on the basis of limited sampling or secondary changes, such as hemorrhage and/or necrosis

Souzan Sanati


Scholarcy highlights

  • Ewing sarcoma/peripheral neuroectodermal tumor, since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood
  • We demonstrate that fine-needle aspiration biopsy material provides a sufficient substrate for molecular genetic testing by either fluorescence in situ hybridization or reverse transcriptase-polymerase chain reaction but that molecular analysis of cytology specimens shares many of the same limitations that impact the usefulness of this testing when applied to tissue specimens
  • A head computed tomography scan showed a 7-cm mass involving the parotid gland with effacement of the right parapharyngeal space and distortion of the nasopharynx; an abdominal CT scan showed multiple liver metastases
  • EWS/PNET traditionally has been considered a neoplasm of children and adolescents that presents in the soft tissue and bone
  • Previous reports have indicated that FNA biopsy is a reliable approach for the diagnosis of EWS/ PNET regardless of the site of clinical presentation
  • The so-called large cell variant of EWS/PNET may be confused with large cell lymphoma, but immunophenotyping settles this diagnostic issue in most cases
  • The current results demonstrate that ancillary testing of patients with EWS/PNET by using reverse transcriptase-polymerase chain reaction and/or fluorescence in situ hybridization is not limited by the lack of excisional biopsy material but can be performed on cytology specimens without compromising diagnosis by conventional cytologic and immunocytochemical analysis

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