作者: MARC DE BRAEKELEER , CORINE TOUS , NADIA GUÉGANIC , MARIE-JOSÉE LE BRIS , AUDREY BASINKO
DOI: 10.3892/MCO.2016.793
关键词: Molecular biology 、 Antibody 、 Biology 、 Immunoglobulin gene 、 Chronic lymphocytic leukemia 、 Gene 、 Locus (genetics) 、 Molecular cytogenetics 、 Chromosomal translocation 、 IGHV@
摘要: Chronic lymphocytic leukemia (CLL) represents the most common hematological malignancy in Western countries, with a highly heterogeneous clinical course and prognosis. Translocations involving immunoglobulin (IG) genes are regularly identified. From 2000 to 2014, we identified an IG gene translocation 18 of 396 patients investigated at diagnosis (4.6%) 17 275 analyzed during follow-up (6.2%). A total 4 whom was did not carry diagnosis. The heavy locus (IGH) involved 27 translocations (77.1%), κ (IGK) 1 (2.9%) λ (IGL) 7 (20.0%). chromosome band partners were 18q21 16 cases (45.7%), 11q13 19q13 each (11.4% each), 8q24 3 (8.6%), 7q21 2 (5.7%), whereas 6 other bands once (2.9% each). At present, 35 partner chromosomal have been described, but has solely 10 translocations. CLL associated is characterized by atypical cell morphology, including plasmacytoid characteristics, propensity being enriched prolymphocytes. chain variable region (IGHV) mutational status varies between translocations, those unmutated IGHV presumably cells earlier stage B-cell lineage. All thus far control proliferation and/or apoptosis. translocated becomes transcriptionally deregulated as consequence its transposition into locus. With exception t(14;18)(q32;q21) variants, prognosis appears be poor for Therefore, searching only IGH, also IGL IGK, banding molecular cytogenetics required. Furthermore, it important identify ensure receive optimal treatment.