Pediatric and Developmental Pathology

, Volume 7, Issue 5, pp 538–545

Primary Subcutaneous Primitive Neuroectodermal Tumor with Aggressive Behavior and an Unusual Karyotype: Case Report

  • Gino R. Somers
  • Mary Shago
  • Maria Zielenska
  • Helen S.L. Chan
  • Bo Y. Ngan
CASE REPORT

DOI: 10.1007/s10024-004-2024-6

Cite this article as:
Somers, G.R., Shago, M., Zielenska, M. et al. Pediatr Dev Pathol (2004) 7: 538. doi:10.1007/s10024-004-2024-6

Abstract

Primitive neuroectodermal tumor/Ewing sarcoma (PNET/ES) rarely occurs in the skin and subcutaneous tissues. We present a case of a 16-year-old girl with primary cutaneous and subcutaneous PNET/ES of the abdominal wall. Despite wide local excision and chemotherapy, she rapidly developed cranial bone and brain metastases, followed by lung and skeletal metastases, and died shortly thereafter. The recurrent tumor exhibited light microscopic features of a small, round, blue cell tumor with intracytoplasmic glycogen. Immunohistochemical analysis showed positivity for CD99, CD56, S100, and glial fibrillary acid protein, and ultrastructural features included cytoplasmic glycogen and focal complex interdigitating synaptic junction-like cytoplasmic folds. Cytogenetic analysis of the relapsed tumor showed a complex karyotype: 47,XX,i(1)(q10), der(4)t(4;19) (q33∼q35;q13.1), + 8,t(15;17)(q24;p11.2∼p12),der(19)t (19;20)(q13.1;p11.2),der(22)t(20;22)(q13;q13). Cytogenetic, interphase fluorescence in situ hybridization, and molecular genetic analyses failed to show t(11:22) (q24;q12) or abnormalities of chromosome region 22q12. The clinical behavior and atypical and complex cytogenetic abnormalities exhibited by the tumor in this patient are unusual and represent the most aggressive end of the clinical spectrum of cutaneous and subcutaneous PNET/ES.

Keywords

subcutaneous primitive neuroectodermal tumorelectron microscopyimmunohistochemistrykaryotypemetastasesreverse transcriptase polymerase chain reaction

Copyright information

© Society of Pediatric Pathology 2004

Authors and Affiliations

  • Gino R. Somers
    • 1
  • Mary Shago
    • 2
  • Maria Zielenska
    • 2
  • Helen S.L. Chan
    • 3
  • Bo Y. Ngan
    • 1
  1. 1.Division of Pathology, Department of Paediatric Laboratory MedicineHospital for Sick ChildrenTorontoCanada
  2. 2.Division of Molecular Genetics, Department of Paediatric Laboratory MedicineHospital for Sick ChildrenTorontoCanada
  3. 3.Division of Haematology/Oncology, Department of PaediatricsHospital for Sick ChildrenTorontoCanada