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IGHV mutational status of nodal marginal zone lymphoma by NGS reveals distinct pathogenic pathways with different prognostic implications

Virchows Archiv Dec 15, 2019

Massimo G, Teresa A, Arianna DN, et al. - Experts investigated the B cell Ig heavy-chain repertoires by next-generation sequencing in 30 nodal marginal zone lymphoma (NMZL) cases. Most of the cases were mutated. Results exhibited that NMZL cases have a biased usage of specific immunoglobulin heavy-chain variable (IGHV) region genes. Furthermore, in all (100%) of the mutated cases and ongoing somatic hypermutations, intraclonal diversity has been authenticated through hundreds of reads. The mutational pattern to discover and quantify antigen selection pressure was discovered and a positive selection in four cases was seen, whilst in the remaining cases, an unspecific stimulation was noticed. In conclusion, between cases with mutated and unmutated IGHV genes, the disease-specific survival and the progression-free survival were significantly distinctive highlighting mutational status as a potential new biomarker in NMZL.
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