Abstract
The first case of large cell neuroendocrine carcinoma arising in an infant is presented. The tumor arose at the anal verge of a 1-year-old girl. The diagnosis of this CD99-positive tumor was supported by expression of epithelial (keratins, EMA, and Ep-CAM) and neuroendocrine (chromogranin A, synaptophysin, and neuron-specific enolase) markers and absence of immunoreactivity for Fli-1. No fusion of EWSR1 with FLI-1 or ERG was detected by polymerase chain reaction. However, the split of the EWSR1 gene was demonstrated by fluorescence in situ hybridization. This case adds to the few epithelial tumors in which an EWSR1 rearrangement was demonstrated. Because the tumor was initially misclassified as an extraskeletal Ewing's sarcoma, the patient was treated according to the Ewing's sarcoma treatment protocol. She remains free of tumor 8 years after initial diagnosis.
MeSH terms
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12E7 Antigen
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Antigens, CD / biosynthesis*
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Anus Neoplasms / genetics
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Anus Neoplasms / metabolism
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Anus Neoplasms / pathology*
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Biomarkers, Tumor / analysis
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Bone Neoplasms / pathology
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Calmodulin-Binding Proteins / genetics*
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Carcinoma, Large Cell / genetics
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Carcinoma, Large Cell / metabolism
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Carcinoma, Large Cell / pathology*
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Carcinoma, Neuroendocrine / genetics
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Carcinoma, Neuroendocrine / metabolism
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Carcinoma, Neuroendocrine / pathology*
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Cell Adhesion Molecules / biosynthesis*
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Diagnostic Errors
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Female
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Humans
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Immunohistochemistry
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In Situ Hybridization, Fluorescence
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Infant
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Prognosis
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RNA-Binding Protein EWS
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RNA-Binding Proteins / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
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Sarcoma, Ewing / pathology
Substances
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12E7 Antigen
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Antigens, CD
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Biomarkers, Tumor
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CD99 protein, human
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Calmodulin-Binding Proteins
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Cell Adhesion Molecules
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EWSR1 protein, human
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RNA-Binding Protein EWS
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RNA-Binding Proteins