Abstract
Alveolar soft part sarcoma (ASPS), a rare soft tissue sarcoma, is characterized by a chromosomal translocation der(17)t(X;17)(p11;q25) resulting in the production of 2 fusion proteins encoded by regions of the genes for alveolar soft part locus (ASPL) and the transcription factor E3 (TFE3). In this study, polyclonal antibodies were generated to 25 mer peptides encompassing the junctional regions of ASPL-TFE3 type 1 and ASPL-TFE3 type 2. The specificity of the affinity purified antibodies for the synthetic peptides and recombinant expressed ASPL-TFE3 type 1 and ASPL-TFE3 type 2 proteins was evaluated by enzyme-linked immunosorbent assay and was highly fusion type specific. Immunohistochemical staining of formalin-fixed, paraffin-embedded ASPS tumors with the fusion-specific antibodies resulted in intense nuclear staining and differentiation between tumors that express the type 1 protein and tumors that express the type 2 protein. These antibodies will be useful for the differential diagnosis of type 1 and type 2 ASPS and also in the detection of the fusion proteins in biochemical and cell biologic investigations.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Adolescent
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Antibodies / chemistry
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Antibodies / immunology
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / immunology
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / metabolism*
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Cell Nucleus / genetics
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Cell Nucleus / immunology
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Cell Nucleus / metabolism*
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Child
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Child, Preschool
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Diagnosis, Differential
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Enzyme-Linked Immunosorbent Assay
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Female
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Humans
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Immunohistochemistry
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Intracellular Signaling Peptides and Proteins
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Male
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Neoplasm Proteins / genetics
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Neoplasm Proteins / immunology
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Neoplasm Proteins / metabolism*
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / immunology
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Oncogene Proteins, Fusion / metabolism*
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Rare Diseases / diagnosis
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Rare Diseases / genetics
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Rare Diseases / metabolism*
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Rare Diseases / pathology
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Recombinant Proteins / chemistry
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Recombinant Proteins / genetics
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Recombinant Proteins / immunology
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Sarcoma / diagnosis
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Sarcoma / genetics
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Sarcoma / immunology
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Sarcoma / metabolism*
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Sarcoma / pathology
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Translocation, Genetic / immunology
Substances
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ASPSCR1 protein, human
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Antibodies
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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Intracellular Signaling Peptides and Proteins
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Neoplasm Proteins
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Oncogene Proteins, Fusion
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Recombinant Proteins
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TFE3 protein, human