Abstract
We report a case of a 13-year-old girl with soft tissue sarcoma of the hand, which showed muscle and neuroectodermal immunophenotypes. Molecular studies were performed on RNA collected from fine-needle aspiration (FNA) cytology and peripheral blood samples by nested reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis. This biphenotypic tumor showed simultaneous expression of EWS-FLI1 and PAX3-FKHR transcripts, specific of Ewing family tumors and alveolar rhabdomyosarcoma, respectively. Although childhood sarcomas with simultaneous muscle and neural differentiation have been described to have EWS-FLI1 transcripts, there are no reports of tumors with both transcripts. Cytological specimens are a good source of RNA for molecular studies.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Biomarkers, Tumor / analysis
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Blotting, Southern
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Chimera / genetics
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Female
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Hand
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Humans
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Immunohistochemistry
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Immunophenotyping
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In Situ Hybridization, Fluorescence
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Magnetic Resonance Imaging
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Muscle Neoplasms / genetics
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Muscle Neoplasms / immunology
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Muscle Neoplasms / pathology*
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Muscle, Skeletal / immunology
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Muscle, Skeletal / pathology
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Neuroectodermal Tumors, Primitive, Peripheral / genetics
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Neuroectodermal Tumors, Primitive, Peripheral / immunology
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Neuroectodermal Tumors, Primitive, Peripheral / pathology*
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Polymerase Chain Reaction
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RNA, Neoplasm / analysis
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Sarcoma, Small Cell / genetics
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Sarcoma, Small Cell / immunology
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Sarcoma, Small Cell / pathology*
Substances
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Biomarkers, Tumor
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RNA, Neoplasm