Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report

Pediatr Dev Pathol. 2004 Sep-Oct;7(5):538-45. doi: 10.1007/s10024-004-2024-6. Epub 2004 Oct 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 approximately q35;q13.1), + 8,t(15;17)(q24;p11.2 approximately 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biomarkers, Tumor / analysis
  • Bone Neoplasms / secondary
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / secondary
  • Chromosome Aberrations
  • Fatal Outcome
  • Female
  • Humans
  • Immunohistochemistry
  • Lung Neoplasms / secondary
  • Microscopy, Electron, Transmission
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics
  • Neuroectodermal Tumors, Primitive, Peripheral / metabolism
  • Neuroectodermal Tumors, Primitive, Peripheral / secondary*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Ewing / genetics
  • Sarcoma, Ewing / metabolism
  • Sarcoma, Ewing / pathology*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / metabolism
  • Soft Tissue Neoplasms / pathology*
  • Subcutaneous Tissue / pathology*
  • Subcutaneous Tissue / ultrastructure

Substances

  • Biomarkers, Tumor