Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/29183
Title: Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets.
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Issue Date: 19-Dec-2017
Citation: Mata E, Díaz-López A, Martín-Moreno AM, Sánchez-Beato M, Varela I, Mestre MJ, et al. Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets. Oncotarget. 2017 Dec 19;8(67):111386-95.
Abstract: Defining the mutational landscape of classic Hodgkin lymphoma is still a major research goal. New targeted next-generation sequencing (NGS) techniques may identify pathogenic mechanisms and new therapeutic opportunities related to this disease. We describe the mutational profile of a series of 57 cHL cases, enriched in Hodgkin and Reed-Sternberg (HRS) cells. Overall, the results confirm the presence of strong genomic heterogeneity. However, several variants were consistently detected in genes related to relevant signaling pathways, such as GM-CSF/IL-3, CBP/EP300, JAK/STAT, NF-kappaB, and numerous variants of genes affecting the B-cell receptor (BCR) pathway, such as BTK, CARD11, BCL10, among others. This unexpectedly high prevalence of mutations affecting the BCR pathway suggests some requirement for active BCR signaling for cHL cell viability. Additionally, incubation of a panel of cHL cellular models with selective BTK inhibitors in vitro constrains cell proliferation and causes cell death. Our results indicate new pathogenic mechanisms and therapeutic opportunities in this disease.
PMID: 29340061
URI: https://hdl.handle.net/20.500.12530/29183
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos
Hospitales > H. U. de Móstoles > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Puerta de Hierro-Segovia de Arana > Artículos

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