Immunoglobulin Gene Rearrangements and Mutational Status in Argentinian Patients With Chronic Lymphocytic Leukemia

Dores, 2007, Chronic lymphocytic leukaemia and small lymphocytic lymphoma: overview of the descriptive epidemiology, Br J Haematol, 139, 809, 10.1111/j.1365-2141.2007.06856.x Smith, 2011, Incidence of haematological malignancy by sub-type: a report from the haematological malignancy research network, Br J Cancer, 105, 1684, 10.1038/bjc.2011.450 Wu, 2010, The incidence of chronic lymphocytic leukemia in Taiwan, 1986-2005: a distinct increasing trend with birth-cohort effect, Blood, 116, 4430, 10.1182/blood-2010-05-285221 Dighiero, 2008, Chronic lymphocytic leukaemia, Lancet, 371, 1017, 10.1016/S0140-6736(08)60456-0 Damle, 1999, Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia, Blood, 94, 1840, 10.1182/blood.V94.6.1840 Hamblin, 1999, Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia, Blood, 94, 1848, 10.1182/blood.V94.6.1848 Crespo, 2003, ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia, N Engl J Med, 348, 1764, 10.1056/NEJMoa023143 Kröber, 2002, V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia, Blood, 100, 1410, 10.1182/blood.V100.4.1410.h81602001410_1410_1416 Döhner, 2000, Genomic aberrations and survival in chronic lymphocytic leukemia, N Engl J Med, 343, 1910, 10.1056/NEJM200012283432602 Duke, 2003, VH gene usage differs in germline and mutated B-cell chronic lymphocytic leukemia, Haematologica, 88, 1259 Mauerer, 2005, Immunoglobulin gene segment usage, location and immunogenicity in mutated and unmutated chronic lymphocytic leukaemia, Br J Haematol, 129, 499, 10.1111/j.1365-2141.2005.05480.x Donisi, 2006, Pattern and distribution of immunoglobulin VH gene usage in a cohort of B-CLL patients from a northeastern region of Italy, Diagn Mol Pathol, 15, 206, 10.1097/01.pdm.0000213469.85301.d6 Stamatopoulos, 2007, Over 20% of patients with chronic lymphocytic leukemia carry stereotyped receptors: pathogenetic implications and clinical correlations, Blood, 109, 259, 10.1182/blood-2006-03-012948 Bomben, 2009, Molecular and clinical features of chronic lymphocytic leukaemia with stereotyped B cell receptor: results from Italian multicentre study, Br J Haematol, 144, 492, 10.1111/j.1365-2141.2008.07469.x Agathangelidis, 2012, Stereotyped B-cell receptors in one third of chronic lymphocytic leukemia: a molecular classification with implications for targeted therapeutic interventions, Blood, 119, 4467, 10.1182/blood-2011-11-393694 Koiso, 2006, Distinctive immunoglobulin VH gene usage in Japanese patients with chronic lymphocytic leukemia, Leuk Res, 30, 272, 10.1016/j.leukres.2005.07.007 Irons, 2009, Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns, Leuk Res, 33, 1599, 10.1016/j.leukres.2008.12.021 Ghia, 2005, Geographic patterns and pathogenetic implications of IGHV gene usage in chronic lymphocytic leukemia: the lesson of the IGHV3-21 gene, Blood, 105, 1678, 10.1182/blood-2004-07-2606 Cahill, 2012, IGHV3-21 gene frequency in Swedish cohort of patients with newly diagnosed chronic lymphocytic leukemia, Clin Lymphoma Myeloma Leuk, 12, 201, 10.1016/j.clml.2012.01.009 Ruiz-Argüelles, 1999, Chronic lymphocytic leukemia is infrequent in Mexican mestizos, Int J Hematol, 69, 253 Moro I, Foren L, Guillermo C, et al. Primer registro nacional de leucemias. Paper presented at XI Uruguayan Hematology Congress, November 19-21, 2009; Punta del Este, Uruguay. Pimentel, 2008, Use of VH, D and JH immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukemia (CLL), Genet Mol Biol, 31, 643, 10.1590/S1415-47572008000400007 Bianchi, 2010, Immunoglobulin heavy chain V-D-J gene rearrangement and mutational status in Uruguayan patients with chronic lymphocytic leukemia, Leuk Lymphoma, 51, 2070, 10.3109/10428194.2010.522283 Marquez, 2012, Unexpectedly high frequency of European parentage in Venezuelan patients with chronic lymphocytic leukemia, Leuk Lymphoma, 53, 235, 10.3109/10428194.2011.606938 Hallek, 2008, Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines, Blood, 111, 5446, 10.1182/blood-2007-06-093906 Rai, 1975, Clinical staging of chronic lymphocytic leukemia, Blood, 46, 219, 10.1182/blood.V46.2.219.219 Pritsch, 1993, V gene usage by seven hybrids derived from CD5+ B-cell chronic lymphocytic leukemia and displaying autoantibody activity, Blood, 82, 3103, 10.1182/blood.V82.10.3103.3103 Campbell, 1992, Use of family specific leader region primers for PCR amplification of the human heavy chain variable region gene repertoire, Mol Immunol, 29, 193, 10.1016/0161-5890(92)90100-C Brochet, 2008, IMGT/V-QUEST: the highly customized and integrated system for IG and TR standardized V-J and V-D-J sequence analysis, Nucleic Acids Res, 36, 503, 10.1093/nar/gkn316 Murray, 2008, Stereotyped patterns of somatic hypermutation in subsets of patients with chronic lymphocytic leukemia: implications for the role of antigen selection in leukemogenesis, Blood, 111, 1524, 10.1182/blood-2007-07-099564 Messmer, 2009, Computational identification of CDR3 sequence archetypes among immunoglobulin sequences in chronic lymphocytic leukemia, Leuk Res, 33, 368, 10.1016/j.leukres.2008.05.022 Chenna, 2003, Multiple sequence alignment with the Clustal series of programs, Nucleic Acids Res, 31, 3497, 10.1093/nar/gkg500 Messmer, 2004, The pattern and distribution of immunoglobulin VH gene mutations in chronic lymphocytic leukemia B cells are consistent with the canonical somatic hypermutation process, Blood, 103, 3490, 10.1182/blood-2003-10-3407 Fais, 1998, Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors, J Clin Invest, 102, 1515, 10.1172/JCI3009 Haferlach, 2007, Comprehensive genetic characterization of CLL: a study on 506 cases analyzed with chromosome banding analysis, interphase FISH, IgV(J) status and immunophenotype, Leukemia, 21, 2442, 10.1038/sj.leu.2404935 Widhopf, 2004, Chronic lymphocytic leukemia B cells of more than 1% of patients express virtually identical immunoglobulins, Blood, 104, 2499, 10.1182/blood-2004-03-0818 Ikematsu, 1994, Surface phenotype and Ig heavy-chain gene usage in chronic B cell leukemias: expression of myelomonocytic surface markers in CD5-chronic B-cell leukemia, Blood, 83, 2602, 10.1182/blood.V83.9.2602.2602 Chen, 2008, Distinctive IgVH gene segments usage and mutation status in Chinese patients with chronic lymphocytic leukemia, Leuk Res, 32, 1491, 10.1016/j.leukres.2008.02.005 Hojjat-Farsangi, 2007, Analysis of the immunoglobulin heavy chain variable region gene expression in Iranian patients with chronic lymphocytic leukemia, Leuk Lymphoma, 48, 109, 10.1080/10428190601043310 Avena, 2012, Heterogeneity in genetic admixture across different regions of Argentina, PLoS ONE, 7, e34695, 10.1371/journal.pone.0034695 Hidalgo, 2005, Genetic admixture estimate in the Uruguayan population based on the loci LDLR, GYPA, HBGG, GC and D7S8, Int J Hum Genet, 5, 217, 10.1080/09723757.2005.11885929 Giolo, 2012, Brazilian population genetic structure reveals a high degree of admixture, Eur J Hum Genet, 20, 111, 10.1038/ejhg.2011.144 Maloum, 2000, Expression of unmutated VH genes is a detrimental prognostic factor in chronic lymphocytic leukemia, Blood, 96, 377, 10.1182/blood.V96.1.377 Capello, 2004, Evidence of biased immunoglobulin variable gene usage in highly stable B-cell chronic lymphocytic leukemia, Leukemia, 18, 1941, 10.1038/sj.leu.2403537 Weinberg, 2007, Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia, Am J Hematol, 82, 1063, 10.1002/ajh.20987 Nardini, 2003, Thymic function and immunoglobulin mutation genotype in B-cell chronic lymphocytic leukemia patients, Int J Cancer, 107, 958, 10.1002/ijc.11482 Hojjat-Farsangi, 2009, Immunoglobulin heavy chain variable region gene usage and mutational status of the leukemic B cells in Iranian patients with chronic lymphocytic leukemia, Cancer Sci, 100, 2346, 10.1111/j.1349-7006.2009.01341.x Abramenko, 2007, IGHV3-21 gene expression in patients with B-cell chronic lymphocytic leukemia in Ukraine, Exp Oncol, 29, 226 Bomben, 2010, Expression of mutated IGHV3-23 genes in chronic lymphocytic leukemia identifies a disease subset with peculiar clinical and biological features, Clin Cancer Res, 16, 620, 10.1158/1078-0432.CCR-09-1638 Potter, 2003, Features of the overexpressed V1-69 genes in the unmutated subset of chronic lymphocytic leukemia are distinct from those in the healthy elderly repertoire, Blood, 101, 3082, 10.1182/blood-2002-08-2432 Nakahashi, 2009, Characterization of immunoglobulin heavy and light chain expression in chronic lymphocytic leukemia and related disorders, Cancer Sci, 100, 671, 10.1111/j.1349-7006.2009.01092.x Tobin, 2004, Subsets with restricted immunoglobulin gene rearrangement features indicate a role for antigen selection in the development of chronic lymphocytic leukemia, Blood, 104, 2879, 10.1182/blood-2004-01-0132 Hadzidimitriou, 2011, Is there a role for antigen selection in mantle cell lymphoma?, Blood, 118, 3088, 10.1182/blood-2011-03-343434 Tschumper, 2008, Immunoglobulin diversity gene usage predicts unfavorable outcome in a subset of chronic lymphocytic leukemia patients, J Clin Invest, 118, 306, 10.1172/JCI32625 Marincevic, 2010, Distinct gene expression profiles in subsets of chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors, Haematologica, 95, 2072, 10.3324/haematol.2010.028639 Maura, 2011, Relevance of stereotyped B-cell receptors in the context of the molecular, cytogenetic and clinical features of chronic lymphocytic leukemia, PLoS ONE, 6, e24313, 10.1371/journal.pone.0024313 Maura, 2012, B-cell receptor configuration and adverse cytogenetics are associated with autoimmune hemolytic anemia in chronic lymphocytic leukemia, Am J Hematol, 88, 32, 10.1002/ajh.23342 Ghiotto, 2004, Remarkable similar antigen receptors among a subset of patients with chronic lymphocytic leukemia, J Clin Invest, 113, 1008, 10.1172/JCI19399 Chu, 2008, Chronic lymphocytic leukemia antibodies with a common stereotypic rearrangement recognize nonmuscle myosin heavy chain IIA, Blood, 112, 5122, 10.1182/blood-2008-06-162024 Chu, 2010, Many chronic lymphocytic leukemia antibodies recognize apoptotic cells with exposed nonmuscle myosin heavy chain IIA: implications for patient outcome and cell of origin, Blood, 115, 3907, 10.1182/blood-2009-09-244251 Mauerer, 2005, Immunoglobulin gene segment usage, location and immunogenicity in mutated and unmutated chronic lymphocytic leukemia, Br J Haematol, 129, 499, 10.1111/j.1365-2141.2005.05480.x Weinberg, 2007, Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia, Am J Hematol, 82, 1063, 10.1002/ajh.20987 Messmer, 2004, The pattern and distribution of immunoglobulin VH gene mutations in chronic lymphocytic leukemia B cells are consistent with the canonical somatic hypermutation process, Blood, 103, 3490, 10.1182/blood-2003-10-3407 Pasqualucci, 2000, BCL-6 mutations are associated with immunoglobulin variable heavy chain mutations in B-cell chronic lymphocytic leukemia, Cancer Res, 60, 5644 Tobin, 2004, Subsets with restricted immunoglobulin gene rearrangement features indicate a role for antigen selection in the development of chronic lymphocytic leukemia, Blood, 104, 2879, 10.1182/blood-2004-01-0132 Pritsch, 1993, V gene usage by seven hybrids derived from CD5+ B-cell chronic lymphocytic leukemia and displaying autoantibody activity, Blood, 82, 3103, 10.1182/blood.V82.10.3103.3103 Bomben, 2009, Molecular and clinical features of chronic lymphocytic leukemia with stereotyped B cell receptor: results from Italian multicentre study, Br J Haematol, 144, 492, 10.1111/j.1365-2141.2008.07469.x Nardini, 2003, Thymic function and immunoglobulin mutation genotype in B-cell chronic lymphocytic leukemia patients, Int J Cancer, 107, 958, 10.1002/ijc.11482 Crespo, 2003, ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia, N Engl J Med, 348, 1764, 10.1056/NEJMoa023143 Maloum, 2000, Expression of unmutated VH genes is a detrimental prognostic factor in chronic lymphocytic leukemia, Blood, 96, 377, 10.1182/blood.V96.1.377 Stamatopoulos, 2007, Over 20% of patients with chronic lymphocytic leukemia carry stereotyped receptors: pathogenetic implications and clinical correlations, Blood, 109, 259, 10.1182/blood-2006-03-012948 Ghia, 2005, Geographic patterns and pathogenetic implications of IGHV gene usage in chronic lymphocytic leukemia: Lesson of the IGHV3-21 gene, Blood, 105, 1678, 10.1182/blood-2004-07-2606 Hamblin, 1999, Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia, Blood, 94, 1848, 10.1182/blood.V94.6.1848 Duke, 2003, VH gene usage differs in germline and mutated B-cell chronic lymphocytic leukemia, Haematologica, 88, 1259 Abramenko, 2007, IGHV3-21 gene expression in patients with B-cell chronic lymphocytic leukemia in Ukraine, Exp Oncol, 29, 226 Koiso, 2006, Distinctive immunoglobulin VH gene usage in Japanese patients with CLL, Leukemia Res, 30, 272, 10.1016/j.leukres.2005.07.007 Nakahashi, 2009, Characterization of immunoglobulin heavy and light chain expression in chronic lymphocytic leukemia and related disorders, Cancer Sci, 100, 671, 10.1111/j.1349-7006.2009.01092.x Chen, 2008, Distinctive IgVH gene segments usage and mutation status in Chinese patients with chronic lymphocytic leukemia, Leuk Res, 32, 1491, 10.1016/j.leukres.2008.02.005 Irons, 2009, Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns, Leuk Res, 33, 1599, 10.1016/j.leukres.2008.12.021 Hojjat-Farsangi, 2009, Immunoglobulin heavy chain variable region gene usage and mutational status of the leukemic B cells in Iranian patients with chronic lymphocytic leukemia, Cancer Sci, 100, 2346, 10.1111/j.1349-7006.2009.01341.x Pimentel, 2008, Use of VH, D and JH immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukemia (CLL), Genet Mol Biol, 31, 643, 10.1590/S1415-47572008000400007 Bianchi, 2010, Immunoglobulin heavy chain V-D-J gene rearrangement and mutational status in Uruguayan patients with chronic lymphocytic leukemia, Leuk and Lymph, 51, 2070, 10.3109/10428194.2010.522283 Marquez, 2012, Unexpectedly high frequency of European parentage in Venezuelan patients with chronic lymphocytic leukemia, Leuk Lymph, 53, 235, 10.3109/10428194.2011.606938