Aberrant somatic hypermutation in transformation of follicular lymphoma and chronic lymphocytic leukemia to diffuse large B-cell lymphoma.
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.
Rossi
Davide
D
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
Berra
Eva
E
Cerri
Michaela
M
Deambrogi
Clara
C
Barbieri
Caterina
C
Franceschetti
Silvia
S
Lunghi
Monia
M
Conconi
Annarita
A
Paulli
Marco
M
Matolcsy
Andràs
A
Pasqualucci
Laura
L
Capello
Daniela
D
Gaidano
Gianluca
G
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*