ABSTRACT
Several groups have demonstrated that healthy individuals can present the t(14;18) translocation. In this report, the presence of the translocation was examined in healthy blood donors in Brazil, a country considered an ethnic melting pot. The translocation was detected by nested PCR in 227 peripheral blood samples from individuals with different ethnic backgrounds. The t(14;18) translocation was found in 45 of 85 White individuals (52.94%); in 57 of 72 Black individuals (79.17%); and in 68 of 70 individuals (97.14%) of Japanese-descent. In conclusion, the frequency of the t(14;18) translocation in the Brazilian population varies according to the ethnic background.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 18 , Lymphoma, Follicular/ethnology , Lymphoma, Follicular/genetics , Translocation, Genetic , Blood Donors , Brazil/ethnology , Ethnicity , Polymerase Chain ReactionABSTRACT
AIM: Gene rearrangement has an important role in the management of lymphoma. We investigated the rearrangements of B-cell leukaemia/lymphoma 2 (BCL2), BCL6 and Paired homeobox 5 (PAX5) genes in Indonesian follicular lymphoma (FL) patients. METHODS: We examined gene rearrangements using various kinds of polymerase chain reactions (PCRs) on 24 patients' peripheral blood DNA. RESULTS: BCL2 rearrangement was found in 58% (14 of 24 patients), 8 at mbr (major breakpoint region), 2 at mcr (minor cluster region) and 4 at icr (intermediate cluster region), respectively. No rearrangement in BCL6 and PAX5 was detected. There was a significant difference in the incidence of spleen involvement between patients with BCL-2 rearrangement and without it (50% vs. 11%, p=0.04). BCL-2 rearrangement was correlated with spleen involvement (OR=9) and anemia (OR=2.3). CONCLUSION: BCL2 rearrangement in Indonesian FL was higher than previous reports from other Asia countries (58% vs. 48%, respectively). Our method using peripheral blood DNA might be useful for the molecular diagnosis of FL.
Subject(s)
Anemia/epidemiology , PAX5 Transcription Factor/genetics , DNA-Binding Proteins/genetics , Female , Gene Rearrangement , Genes, bcl-2/genetics , Humans , Indonesia/epidemiology , Lymphoma, Follicular/genetics , Male , Middle Aged , Polymerase Chain Reaction , Splenic Neoplasms/epidemiology , Translocation, GeneticABSTRACT
Los telómeros son estructuras esenciales para el mantenimiento de la integridad cromosómica y la capacidad replicativa de la célula. La reducción de la longitud telomérica (LT) aumenta la probabilidad de producir errores capaces de generar cambios genómicos importantes para el desarrollo neoplásico, determinando desbalances de material genético. En este trabajo se evaluó la LT mediante el análisis de fragmentos de restricción terminal (TRF) en médula ósea y/o biopsia ganglionar de 36 pacientes (edad media: 54.2 años; rango 29-77 años; 21 varones): 29 con linfoma folicular (LF) al diagnóstico y 7 con linfoma B difuso a células grandes secundario a LF (LBDCG-S). Se efectuó el análisis del rearreglo molecular del gen BCL-2 por PCR anidada y de larga distancia. Las medias de TRF en LF (4.18±0.18 Kb) y LBDCG-S (3.31±0.25 Kb) resultaron significativamente menores que en controles (8.50±0.50 Kb) (p<0.001), encontrándose diferencias entre ambos subtipos histológicos (p=0.036). Las muestras negativas para el rearreglo BCL-2 mostraron LT menores (3.39±0.30 Kb) que las positivas (4.25±0.19 Kb) (p=0.023), observándose una tendencia a valores menores en pacientes negativos para el rearreglo BCL-2, intermedios en positivos para mcr, minor cluster region, (3.84±0.45 Kb) y mayores en los positivos para MBR, Major Breakpoint Region, (4.35±0.21 Kb). Nuestros resultados muestran una reducción de la LT en LF y LBDCG-S, con TRFs significativamente más cortos en estos últimos, sugiriendo la participación del acortamiento telomérico em la progresión tumoral. Asimismo, las diferencias detectadas entre los casos BCL-2 positivos y negativos sustentarían la presencia de diferentes mecanismos patogénicos propuestos para estos distintos LF.
Subject(s)
Adult , Middle Aged , Humans , Male , Female , Lymphoma, Large B-Cell, Diffuse , Lymphoma, B-Cell/genetics , Lymphoma, Follicular/genetics , Telomere/physiology , Bone Marrow/pathology , Ganglia/pathology , /genetics , Telomere/geneticsSubject(s)
Humans , Lymphoma, Follicular/genetics , Neoplasm, Residual/genetics , Proto-Oncogene Proteins c-bcl-2/genetics , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Apoptosis/genetics , Caspases/genetics , Lymphoma, Follicular/drug therapy , Prognosis , Translocation, GeneticABSTRACT
The incidence of follicular lymphoma in Saudi Arabia is very low compared to that in Western countries. We analyzed 22 diagnosed cases, based on conventional morphology examination and immunohistochemistry, to detect the Bcl-2 gene rearrangement by polymerase chain reaction [PCR]. The DNA was extracted from formalin-fixed paraffin-embedded lymph node tissues by the standard xylene treatment and proteinase K digestion method. Rearrangement of the major breakpoint region was evident in 8 of the 22 cases [36%], determined by visualization of a discrete band hybridized with a chemiluminescence-labeled specific probe. Although the number of cases is small, we believe it denotes a normal detection rate for PCR analysis, using DNA isolated from fixed tissue. With the exception of follicular lymphoma, non-Hodgkin's lymphoma [NHL] analyzed included diffuse large cell lymphoma, lymphoblastic lymphoma, chronic lymphocytic leukemia, mucosa-associated lymphoid tissue and mantle zone lymphomas. No Bcl-2 gene rearrangement was detected in any of these cases. No evidence of Bcl-2 minor cluster sequence gene rearrangement was detected in any of the 38 NHL cases analyzed