Article
Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).
Cold Spring Harbor molecular case studies - 1 Feb 2021
Burlet Bénédicte, Ramla Selim, Fournier Cyril, Abrey-Recalde Maria Jimena, Sauter Camille, Chrétien Marie-Lorraine, Rossi Cédric, Duffourd Yannis, Ragot Sylviane, Buriller Céline, Tournier Benjamin, Chapusot Caroline, Nadal Nathalie, Racine Jessica, Guy Julien, Bailly François, Martin Laurent, Casasnovas Olivier, Bastie Jean-Noël, Caillot Denis, Albuisson Juliette, Broccardo Cyril, Thieblemont Catherine, Delva Laurent, Maynadié Marc, Aucagne Romain, Callanan Mary B
Abstract excerpt
Diagnosis of B-cell chronic lymphocytic leukemia (B-CLL) is usually straightforward, involving clinical, immunophenotypic (Matutes score), and (immuno)genetic analyses (to refine patient prognosis for treatment). CLL cases with atypical presentation (e.g., Matutes ≤ 3) are also encountered, and for these diseases, biology and prognostic impact are less clear. Here we report the genomic characterization of a case...
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