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1.
Leuk Lymphoma ; 49(3): 470-6, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18297523

RESUMEN

Follicular lymphoma (FL) is a common subtype of low grade B-cell non-Hodgkin lymphoma (NHL). Although this form of lymphoma often pursues an indolent course, in some cases it may behave in a more aggressive manner. Clinical and histological parameters have been shown to correlate with an adverse prognosis but a number of cytogenetic abnormalities may also be associated with aggressive disease. Although, the t(14;18) in itself does not affect outcome in cases of FL, secondary abnormalities that occur in a complex polyploid karyotype may identify cases with a poor prognosis. It is unusual to find both t(14;18) and C-MYC translocation in the same tumour; those cases in which it has been described include examples of high-grade B-cell NHL (either de novo or transformed FL) or B-cell acute lymphoblastic lymphoma. In this report, three cases of FL are described in which both t(14;18) and a C-MYC translocation were identified at presentation. We also summarize four further cases from the literature. This is a small series but one which raises the possibility that the presence of a C-MYC translocations at presentation may identify a particularly aggressive subtype of FL. Further studies are required to investigate the true incidence of this aberration, the impact on C-MYC regulation, clinical course and response to treatment.


Asunto(s)
Linfoma Folicular/diagnóstico , Linfoma Folicular/genética , Proteínas Proto-Oncogénicas c-myc/genética , Translocación Genética , Anciano , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 8 , Análisis Citogenético , Femenino , Humanos , Masculino , Pronóstico , Resultado del Tratamiento
2.
Cancer Res ; 63(15): 4656-61, 2003 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-12907646

RESUMEN

It is widely accepted that both large-scale chromosomal abnormalities and mutation of specific genes, such as APC, K-ras, and/or p53, occur in the majority of colorectal adenocarcinomas. Whether or not a relationship exists between these different forms of genetic abnormalities was previously unknown. Using comparative genomic hybridization and mutational analysis of APC, K-ras, and p53 to evaluate 50 colorectal adenocarcinomas, we have shown that mutation of p53 is significantly associated with gain of 20q, 13q, and 8q and loss of 18q (P = 0.000, 0.02, 0.044, and 0.001, respectively). Conversely, APC mutation did not associate with any of the above-mentioned aberrations but did associate significantly with gain of 7p (P = 0.01). Gain of chromosomal arm 12p, although a less common aberration, was significantly associated with K-ras mutation (P = 0.011). The associations we have described should refine the search for candidate genes underlying chromosomal aberrations and assist in the definition of distinct pathways in colorectal tumorigenesis.


Asunto(s)
Adenocarcinoma/genética , Aberraciones Cromosómicas , Neoplasias Colorrectales/genética , Proteínas de Unión al ADN , Genes APC , Genes p53 , Genes ras , Mutación , Proteínas Adaptadoras Transductoras de Señales , Adenocarcinoma/metabolismo , Adenocarcinoma/patología , Anciano , Anciano de 80 o más Años , Proteínas Portadoras , Neoplasias Colorrectales/metabolismo , Neoplasias Colorrectales/patología , Femenino , Genotipo , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Homólogo 1 de la Proteína MutL , Proteína 2 Homóloga a MutS , Proteínas de Neoplasias/metabolismo , Proteínas Nucleares , Proteínas Proto-Oncogénicas/metabolismo
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