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

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Pediatric and Developmental Pathology

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.

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Acknowledgments

The authors thank Mike Starr for expert help with the imaging, Vern Edwards for electron microscopy, and Michael Ho and Wilson Chan for immunohistochemical analyses.

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Authors and Affiliations

  1. Division of Pathology, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada

    Gino R. Somers & Bo Y. Ngan

  2. Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada

    Mary Shago & Maria Zielenska

  3. Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada

    Helen S.L. Chan

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  1. Gino R. Somers
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  2. Mary Shago
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Correspondence to Gino R. Somers.

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Somers, G.R., Shago, M., Zielenska, M. et al. Primary Subcutaneous Primitive Neuroectodermal Tumor with Aggressive Behavior and an Unusual Karyotype: Case Report. Pediatr Dev Pathol 7, 538–545 (2004). https://doi.org/10.1007/s10024-004-2024-6

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