title: Aberrant somatic hypermutation in transformation of follicular lymphoma and chronic lymphocytic leukemia to diffuse large B-cell lymphoma.
abstract: The molecular mechanisms involved in histologic transformation of follicular lymphoma (FL) and B-chronic lymphocytic leukemia (B-CLL) to diffuse large B-cell lymphoma (DLBCL) are heterogeneous and largely unknown. Here we explored whether aberrant somatic hypermutation, leading to the acquisition of new mutations in PIM-1, PAX-5, RhoH/TTF and c-MYC genes, is involved in transformation from FL or B-CLL to DLBCL. Eighteen sequential pairs of FL/DLBCL (n=9) and B-CLL/DLBCL (n=9) were investigated. Our findings demonstrate that acquisition of novel mutations due to aberrant somatic hypermutation was associated with DLBCL transformation in 5/9 (55.5%) cases of FL and 2/9 (22.2%) cases of B-CLL.
authors.affiliation: Division of Hematology, Department of Clinical and Experimental Medicine & IRCAD, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, 28100 Novara, Italy. rossidav@med.unipmn.it
authors.forename: Davide
authors.initials: D
authors.lastname: Rossi
authors.forename: Eva
authors.initials: E
authors.lastname: Berra
authors.forename: Michaela
authors.initials: M
authors.lastname: Cerri
authors.forename: Clara
authors.initials: C
authors.lastname: Deambrogi
authors.forename: Caterina
authors.initials: C
authors.lastname: Barbieri
authors.forename: Silvia
authors.initials: S
authors.lastname: Franceschetti
authors.forename: Monia
authors.initials: M
authors.lastname: Lunghi
authors.forename: Annarita
authors.initials: A
authors.lastname: Conconi
authors.forename: Marco
authors.initials: M
authors.lastname: Paulli
authors.forename: Andràs
authors.initials: A
authors.lastname: Matolcsy
authors.forename: Laura
authors.initials: L
authors.lastname: Pasqualucci
authors.forename: Daniela
authors.initials: D
authors.lastname: Capello
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
mesh_terms: D002471:Cell Transformation, Neoplastic / Q000235:genetics* / Q000473:pathology*; D005787:Gene Frequency; D015322:Gene Rearrangement, B-Lymphocyte; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008224:Lymphoma, Follicular / Q000235:genetics*; D027041:Somatic Hypermutation, Immunoglobulin / Q000235:genetics*