Apport récent de la cytogénétique dans la caractérisation des hémolymphopathies chroniques B
(1999)
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- Cancer is thought tot be the consequence of an accumulation of genetic defects. Cytogenetic and molecular techniques allowed the identification of recurrent and nonrecurrent, specific and nonspecific chromosome and/or gene aberrations. In haematological disorders, several characteristic abnormalities have been observed and listed, allowing for the identification of clinic-pathological entities. The presence of particular aberrations in some disorders has led to the investigation of their role in the pathogenesis and progression of those malignancies. <BR> Chronic B-cell lymphoproliferative disorders encompass a variety of diseases. Their distinction is sometimes difficult, and is mainly based on morphologic and immunophenotypic features. Their cytogenetic characterization has been hampered by their low mitotic index. The discovery and systematic use of B-cell mitogens paved the way for more successful cytogenetic investigations. <BR> In the present study, the different chronic B-cell lymphoproliferative disorders are reviewed, and new entities are identified and characterized : <BR> - chronic B-cell lymphoproliferative disorders with translocation t(14;19) and rearrangement of the BCL3 gene, <BR> - chronic B-cell lymphoproliferative disorders with deletion of the long arm of chromosome 12, <BR> - chronic B-cell lymphoproliferative disorders with deletion of the long arm of chromosome 7, <BR> - chronic lymphoproliferative disorders presenting with cold agglutinin disease and trisomy 3, <BR> - non-Hodgkin’s lymphoma with rearrangement of the BCL6 gene, <BR> - marginal zone non-Hodgkin’s lymphoma, <BR> - non-Hodgkin’s lymphoma with translocations involving the λ light chain gen, <BR> - chronic B-cell lymphoproliferative disorders with dual (B and T) rearrangement, <BR> - Waldenström’s disease, <BR> - plasma cell disorders with t(11;14) or Burkitt-type translocations. <BR> The major contribution of cytogenetic to the differential diagnosis is clearly evidenced. Moreover, the prognostic value of the karyotype is demonstrated. Finally, the contribution of chromosomal analysis, complemented by molecular cytogenetic techniques, to a better understanding of underlying pathogenetic mechanisms is shown: <BR> - the region q13–q15 is commonly duplicated in case of dup(12q), <BR> - the region q31-q32 is commonly duplicated in case of del(7q), <BR> - the region q11-q29 is commonly duplicated in case of cold agglutinin syndrome with partial trisomy 3
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Michaux, L. (1999). Apport récent de la cytogénétique dans la caractérisation des hémolymphopathies chroniques B. https://hdl.handle.net/2078.5/111025