Unexpectedly high frequency of European parentage in Venezuelan patients with chronic lymphocytic leukemia

• Published in: Leukemia & lymphoma Vol. 53; no. 2; pp. 235 - 241
• Main Authors: Marquez, Maria-Elena, Deglesne, Pierre-Antoine, Lopez, Jose Luis, Costa, Osiris Da, Borrego, Mildred, Hernández, Marcos, Muller, Aixa, Ajchenbaum-Cymbalista, Florence, Romano, Egidio
• Format: Journal Article
• Language: English
• Published: United States Informa Healthcare 01.02.2012; Taylor & Francis
• Subjects: ADP-ribosyl Cyclase 1 - metabolism; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor - genetics; Biomarkers, Tumor - metabolism; CD38 antigen; Chronic lymphocytic leukemia; Complementarity Determining Regions - genetics; European Continental Ancestry Group - genetics; Female; Flow Cytometry; Humans; IGVH mutational status; Immunoglobulin Heavy Chains - genetics; Immunoglobulin Variable Region - genetics; Leukemia, Lymphocytic, Chronic, B-Cell - diagnosis; Leukemia, Lymphocytic, Chronic, B-Cell - ethnology; Leukemia, Lymphocytic, Chronic, B-Cell - genetics; Male; Membrane Glycoproteins - metabolism; Middle Aged; Mutation - genetics; Neoplasm Staging; Prognosis; Venezuela - ethnology; ZAP-70; ZAP-70 Protein-Tyrosine Kinase - metabolism
• ISSN: 1042-8194; 1029-2403
• DOI: 10.3109/10428194.2011.606938

Abstract There is insufficient information on the characteristics of chronic lymphocytic leukemia (CLL) in Latin American patients. Immunoglobulin variable-region heavy-chain (IGVH) gene usage and mutation status and prognostic factors were investigated in patients resident in Venezuela. The most frequently used IGVH family genes were: VH3 > VH1 > VH4 > VH5, with a high incidence of IGVH1.69 and IGVH3.21 genes, and 55.2% of IGVH genes were mutated. Analysis of HCDR3 (third complementarity-determining region of the heavy chain) revealed that 24% of Venezuelan HCDR3s belonged to a CLL stereotyped HCDR3. Results for prognostic factors were similar to those reported previously for Caucasian populations. Interestingly, we found an over-representation of people of European extraction among Venezuelan patients with CLL, suggesting the possibility of a higher frequency of susceptibility genes for CLL in Europeans in comparison with Latin American mestizos.