Cytogenetic profile of B-cell chronic lymphoproliferative disorders displaying TCR gene rearrangements.
Lucienne MichauxMichel StulJM HernandezElvira Deolinda Rodrigues Pereira VellosoJudith DierlammA. VanorshovenA. CrielAndré BoslyJl. MichauxC. Dewolf-PeetersJJ CassimanC MecucciHans Vandenberghe
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Lymphoproliferative Disorders
Gene rearrangement
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breakpoint cluster region
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In this review, we discuss the structure, organization and activation of the immunoglobulin (Ig) and T cell receptor (TCR) genes and the use of DNA probes derived from these genes as tools to determine clonality and cell lineage in hemopoietic malignancies. We also examined briefly the participation of immunoglobulin and TCR genes in chromosomal aberrations present in many lymphoproliferative disorders, often involving proto-oncogenes and potentially of tumorigenic consequences.
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Supplementary figures are available from the publisher website at http://www.haematologica.org/content/102/9/e360.figures-only
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T‐cell receptor gene rearrangement studies as a diagnostic tool in lymphoproliferative skin diseases
Abstract The growth of our knowledge in T‐cell biology, in particular the molecular biology of the T‐cell receptor (TCR). has provided a means to molecularly characterize lymphoproliferative diseases of the skin based on the presence or absence of a clonal population of T lymphocytes. TCR gene rearrangement studies, by Southern blot analysis, have aided the investigative dermatologist in gaining insights into the pathogenesis and clonal evolution of lymphoproliferative skin diseases. In addition, the application of TCR gene rearrangement studies as a diagnostic aid in the evaluation of lymphoproliferative skin diseases has been introduced into clinical dermatology. Despite its enormous research value. TCR gene rearrangement studies presently have limited applications as an independent diagnostic tool. However, as our knowledge and experience grows and as the application of new techniques provides us with greater detection sensitivity and specificity, the diagnostic utility of TCR gene rearrangement studies will be enhanced.
Gene rearrangement
Lymphoproliferative Disorders
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Objective To explore the clinical significance of rearrangements of immunoglobulin heavy chain (IgH) and T cell receptor(TCR) 7 genes in patients with hemopoietic malignancies. Methods Polymerase chain reaction (PCR) was used to study IgH and TCR7 genes rearrangements in 175 hemopoietic malignancies patients. Results The gene rearrangement of IgH accounted for 50.3%, TCR 7 65 cases for 34. 2% , both positive 27 cases (15%), The gene rearrangement rate was as high as 85. 1%. Conclusion This method is sensitive to hemopoietic malignancies. Lineage infidelity of immunoglobulin gene rearrangements dose exists in ANLL(acute nonlymphocytic leukemia).
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T-lymphoblastic lymphoma (T-LBL) is a highly aggressive malignancy originating from T-lymphocyte precursors. Incidence is highest in children and adolescents. T-cell receptor (TCR) gene rearrangement is usually present. TCR gene rearrangement-negative cases are considered rare. Here, we investigated the clinicopathological features, differential diagnosis, therapy, and prognosis of TCR gene rearrangement-negative T-lymphoblastic lymphoma/leukemia (T-LBL/ALL) by case report and literature review. An 18-year-old male with polyglandular lymphadenopathy underwent an excisional lymph node biopsy and bone marrow aspiration that disclosed diffuse distribution of round, small to medium sized cells with scant cytoplasm, delicate chromatin, and frequent mitotic figures. Immunophenotyping showed expression of TDT, CD3, CD7, and CD5, no CD34, CD20, CD56, bcl-6, CD4, CD8, or MPO in lymph node tissue. Immunohistochemical staining for pathological consultation was performed by Streptavidin peroxidase (SP) method, EB virus coded small RNA (EBER) tested by in situ hybridization (ISH), (EBER-ISH). And flow cytometry of bone marrow aspirate showed that tumor cells expressed CD3, CD5, CD7; partial expression of CD2, CD10, CD38, TDT; and no expression of CD1a, CD34, CD4, CD8, mCD3, CD33, CD56, CD19, CD79a, HLA-DR and MPO. These findings led to the diagnosis of T-LBL/-ALL. Molecular genetic testing showed no TCR gene rearrangement. The patient received chemotherapy consisting of vinorelbine, pirarubicin, cyclophosphamide, asparaginase, and prednisone. Prophylactic chemotherapy of the central nervous system and radiotherapy of the mediastinum were also given. And responded to combined chemotherapy and radiotherapy. Although T-LBL/ALL typically features TCR gene rearrangement, rare cases without rearrangement may occur. Diagnosis is based on clinical characteristics, histopathology, immunotyping, and molecular genetics.
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