Primary cutaneous ewing’s sarcoma peripheral primitive neuroectodermal tumors in childhood a molecular cytogenetic, and immunohistochemical study

C. Soon Lee, Melissa C. Southey, Howard Slater, Alexander W. Auldist, C. W. Chow, Deon J. Venter

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Abstract

Childhood cutaneous and subcutaneous malignancies are rare and include metastatic tumors of diverse histogenesis as well as primary lesions, such as sweat gland carcinomas. Some cutaneous malignancies exhibit a small round cell tumor morphology with few definitive differentiating features; they can thus pose a significant diagnostic problem. We describe two primary malignancies of the skin and superficial subcutis, which were originally diagnosed as sweat gland carcinomas on the basis of their morphological features. A cytogenetic analysis performed on one of these lesions showed the t(11;22)(q24;q 12) rearrangement, believed to be unique to the Ewing’s sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) group of neoplasms. In view of this unexpected result, reverse transcriptase-polymerase chain reaction analysis was performed on both lesions and showed that they expressed EWSIFLI-I fusion gene mRNA transcripts, the molecular equivalent of t(l I;22)(q24;ql2). The two tumors also had an immunohistochemical profile suggesting ES/pPNET, including strong expression of the MIC2 antigen. Both patients were treated with wide local excision, and one was given a course of chemotherapy. Neither patient showed evidence of tumor elsewhere after follow-up periods of 2 years and 16 years. These findings suggest that these tumors are indeed a form of primary ES/pPNET arising in the skin or superficial subcutis, which may be of low-grade malignancy and curable by local surgery.

Original languageEnglish
Pages (from-to)174-181
Number of pages8
JournalDiagnostic Molecular Pathology
Volume4
Issue number3
DOIs
Publication statusPublished - 1 Jan 1995
Externally publishedYes

Keywords

  • Ewing’s sarcoma
  • EWS gene
  • Malignant skin tumor
  • MIC2 antigen
  • Molecular diagnosis
  • Peripheral neuroectodermal tumor
  • Rearrangement
  • Sweat gland tumor
  • T(l122)q24(Q 12)
  • Translocation

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