Abstract
We report a 2-year-old female with a subcutaneous tumor who was initially misdiagnosed as suffering from Ewing sarcoma with a positive EWSR1 rearrangement and EWS/FLI1 transcript. After finding lymphoblasts in peripheral blood, the diagnosis of acute lymphoblastic leukemia was established. This necessitated further analysis of the subcutaneous tumor. The tissue was positive for immature B-cell markers and an immunoglobulin heavy chain gene rearrangement, which confirmed the final diagnosis of common type acute lymphoblastic leukemia with bulk extramedullary disease. The patient was treated with chemotherapy and was in remission 30 months after the diagnosis.
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Child, Preschool
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Chromosomes, Human, Pair 22 / genetics*
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Diagnosis, Differential
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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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Oncogene Proteins, Fusion / genetics*
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis*
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics
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Proto-Oncogene Protein c-fli-1
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RNA-Binding Protein EWS
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Reverse Transcriptase Polymerase Chain Reaction
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Sarcoma, Ewing / diagnosis*
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Soft Tissue Neoplasms / diagnosis*
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Soft Tissue Neoplasms / drug therapy
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Soft Tissue Neoplasms / genetics
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Transcription Factors / genetics*
Substances
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EWS-FLI fusion protein
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Oncogene Proteins, Fusion
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Proto-Oncogene Protein c-fli-1
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RNA-Binding Protein EWS
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Transcription Factors