Abstract
SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormal Karyotype
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Adult
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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DNA-Binding Proteins
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Gene Rearrangement
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Histone Chaperones / genetics*
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Histone Chaperones / metabolism
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Humans
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Male
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Mediastinal Neoplasms / drug therapy
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Mediastinal Neoplasms / genetics
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Mediastinal Neoplasms / metabolism
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Mediastinal Neoplasms / pathology*
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Nuclear Pore Complex Proteins / genetics*
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Nuclear Pore Complex Proteins / metabolism
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / metabolism
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Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
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Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
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Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / metabolism
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Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / pathology*
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Transcription Factors / genetics*
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Transcription Factors / metabolism
Substances
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DNA-Binding Proteins
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Histone Chaperones
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NUP214 protein, human
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Nuclear Pore Complex Proteins
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Oncogene Proteins, Fusion
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SET protein, human
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SET-CAN fusion protein, human
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Transcription Factors