Predominantly diffuse t(14;18) negative follicular lymphoma (FL) with 1p36 deletion shows distinctive clinical, morphological and molecular features that distinguish it from classical FL. In order to investigate whether it possesses a unique mutation profile, we performed whole exome sequencing of six well-characterised cases. Our analysis showed that the mutational landscape of this subtype is largely distinct from classical FL. It appears to harbour several recurrent mutations, affecting STAT6, CREBBP and basal membrane protein genes with high frequency. Our data support the view that this FL subtype should be considered a separate entity from classical FL.

The exomic landscape of t(14;18)-negative diffuse follicular lymphoma with 1p36 deletion

Zamò, Alberto;
2018-01-01

Abstract

Predominantly diffuse t(14;18) negative follicular lymphoma (FL) with 1p36 deletion shows distinctive clinical, morphological and molecular features that distinguish it from classical FL. In order to investigate whether it possesses a unique mutation profile, we performed whole exome sequencing of six well-characterised cases. Our analysis showed that the mutational landscape of this subtype is largely distinct from classical FL. It appears to harbour several recurrent mutations, affecting STAT6, CREBBP and basal membrane protein genes with high frequency. Our data support the view that this FL subtype should be considered a separate entity from classical FL.
2018
180
3
391
394
www.blackwellpublishing.com/journals/BJH
1p36; diffuse; exome; follicular lymphoma; STAT6; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 18; Humans; Lymphoma, Follicular; Mutation; Polymorphism, Single Nucleotide; Whole Exome Sequencing; Chromosome Deletion; Chromosomes, Human, Pair 1; Exome; Genetic Predisposition to Disease; Translocation, Genetic; Hematology
Zamò, Alberto; Pischimarov, Jordan; Horn, Heike; Ott, German; Rosenwald, Andreas; Leich, Ellen*
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1671219
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