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Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report.
Pediatr Dev Pathol. 2004 Sep-Oct; 7(5):538-45.PD

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.

Authors+Show Affiliations

Division of Pathology, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, M5G 1X8, Toronto, ON, Canada. gino.somers@sickkids.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15547779

Citation

Somers, Gino R., et al. "Primary Subcutaneous Primitive Neuroectodermal Tumor With Aggressive Behavior and an Unusual Karyotype: Case Report." Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, vol. 7, no. 5, 2004, pp. 538-45.
Somers GR, Shago M, Zielenska M, et al. Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report. Pediatr Dev Pathol. 2004;7(5):538-45.
Somers, G. R., Shago, M., Zielenska, M., Chan, H. S., & Ngan, B. Y. (2004). Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report. Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 7(5), 538-45.
Somers GR, et al. Primary Subcutaneous Primitive Neuroectodermal Tumor With Aggressive Behavior and an Unusual Karyotype: Case Report. Pediatr Dev Pathol. 2004 Sep-Oct;7(5):538-45. PubMed PMID: 15547779.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report. AU - Somers,Gino R, AU - Shago,Mary, AU - Zielenska,Maria, AU - Chan,Helen S L, AU - Ngan,Bo Y, Y1 - 2004/10/06/ PY - 2004/02/18/received PY - 2004/05/17/accepted PY - 2004/11/18/pubmed PY - 2005/3/24/medline PY - 2004/11/18/entrez SP - 538 EP - 45 JF - Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society JO - Pediatr. Dev. Pathol. VL - 7 IS - 5 N2 - 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. SN - 1093-5266 UR - https://www.unboundmedicine.com/medline/citation/15547779/Primary_subcutaneous_primitive_neuroectodermal_tumor_with_aggressive_behavior_and_an_unusual_karyotype:_case_report_ L2 - http://journals.sagepub.com/doi/full/10.1007/s10024-004-2024-6?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -