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REARREGLOS DEL GEN BCL-2 EN PACIENTES ARGENTINOS CON LINFOMA NO HODGKIN

REARREGLOS DEL GEN BCL-2 EN PACIENTES ARGENTINOS CON LINFOMA NO HODGKIN

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Evaluación de la frecuencia de la translocación t(14;18) en pacientes argentinos con linfoma folicular y linfoma B difuso a células grandes y comparación con las series ya publicadas.
Autor:
María Fernanda Noriega
Columnista Experto de SIIC

Institución:
Departamento de Genética Instituto de Investigaciones Hematológicas "Mariano R. Castex" Academia Nacional de Medicina


Artículos publicados por María Fernanda Noriega
Coautores
Carlos Daniel De Brasi*  Marina Narvaitz**  Irma Rosa Slavutsky*** 
Doctor de la Universidad de Buenos Aires, Instituto de Investigaciones Hematológicas “Mariano R. Castex”, Academia Nacional de Medicina, Buenos Aires, Argentina*
Médica. Instituto de Investigaciones Hematológicas “Mariano R. Castex”, Academia Nacional de Medicina, Buenos Aires, Argentina**
Doctora en Medicina. Instituto de Investigaciones Hematológicas “Mariano R. Castex”, Academia Nacional de Medicina, Buenos Aires, Argentina***
Recepción del artículo
10 de Febrero, 2005
Aprobación
22 de Febrero, 2005
Primera edición
15 de Septiembre, 2005
Segunda edición, ampliada y corregida
7 de Junio, 2021

Resumen
La t(14;18)(q32;q21) es la anomalía más frecuente en linfomas no Hodgkin y da origen al rearreglo molecular BCL-2/IgH. En este trabajo evaluamos la frecuencia y distribución de los rearreglos del gen BCL-2 en 144 pacientes argentinos: 98 con linfoma folicular (LF) y 46 con linfoma B difuso a células grandes (LBDCG) (29 de novo y 17 secundarios). Se utilizó PCR anidada (PCR-N) y de larga distancia (PCR-LD). En LF, 53 pacientes (54.1%) fueron positivos por PCR-N, se encontró un incremento del 24% al emplear la técnica de PCR-LD, que dio un total de 77 pacientes positivos (78.6%). En LBDCG, por PCR-N se detectaron 8 (27.5%) casos positivos para los LBDCG de novo y 9 (52.9%) para los secundarios; con incrementos de 24.1% y 29.4% con PCR-LD, con un total de 51.6% y 82.3%, respectivamente, mostrando un comportamiento diferente para ambas entidades. En LF, la comparación de nuestros resultados por PCR-N con los de otras regiones geográficas mostró diferencias significativas respecto de los datos de EE.UU. (p < 0.0001) y superposición con los de Europa y Asia, lo que sugiere que las diferencias geográficas podrían estar relacionadas con la distribución de puntos de ruptura entre MBR y mcr. Los LBDCG de novo no mostraron diferencias con los datos publicados.

Palabras clave
Linfomas no Hodgkin, linfoma folicular, LBDCG, rearreglos BCL-2, PCR-LD


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Abstract
The translocation t(14;18)(q32;q21) is the most frequent abnormality observed in non-Hodgkin’s lymphoma. It determines the juxtaposition of BCL-2/IgH genes. In this study, we have evaluated the frequency and distribution of BCL-2 gene rearrangements in 144 Argentinean patients: 98 with follicular lymphoma (FL) and 46 with diffuse large B-cell lymphoma (DLBCL) (29 de novo and 17 secondary). Nested (N-PCR) and long-distance PCR (LD-PCR) approaches were used. In FL, 53 positive patients (54.1%) were found by N-PCR. By LD-PCR, additional 24 (24.5%) new positive cases were observed, making a total of 77 patients (78.6%) for BCL-2 gene rearrangements. N-PCR approach detected 8 de novo DLBCL positive cases (27.5%) and 9 (52.9%) secondary ones. By LD-PCR, the frequencies increased to 24.1% and 29.4%, respectively, showing total incidences of 51.6% and 82.3%, for each subtype of DLBCL, indicating the presence of different entities. Our N-PCR results in FL showed statistical differences with respect to the data from USA (p < 0.0001) and overlapped with the frequencies from Asia and Europe, suggesting that the geographical differences may be related with the distribution of breakpoints that are widely spread between MBR and mcr clusters. In de novo DLBCL, no significant differences with respect to the literature were found.

Key words
Non-Hodgkin lymphomas, follicular lymphomas, DLBCL, BCL-2 rearrangements, LD-PCR


Clasificación en siicsalud
Artículos originales > Expertos de Iberoamérica >
página   www.siicsalud.com/des/expertocompleto.php/

Especialidades
Principal: Hematología
Relacionadas: Bioquímica, Diagnóstico por Laboratorio, Epidemiología, Genética Humana, Medicina Interna



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Patrocinio y reconocimiento:
El presente trabajo fue realizado con subsidios otorgados por el Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), la Agencia Nacional de Promoción Científica y Técnica (ANPCyT), Beca “Ramón Carrillo-Arturo Oñativia”, Ministerio de Salud de la Nación y la Fundación “René Barón”.
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