Association between molecular lesions and specific B-cell receptor subsets in chronic lymphocytic leukemia

Davide Rossi, Valeria Spina, Riccardo Bomben, Silvia Rasi, Michele Dal-Bo, Alessio Bruscaggin, Francesca Maria Rossi, Sara Monti, Massimo Degan, Carmela Ciardullo, Roberto Serra, Antonella Zucchetto, Josep Nomdedeu, Pietro Bulian, Alberto Grossi, Francesco Zaja, Gabriele Pozzato, Luca Laurenti, Dimitar G. Efremov, Francesco Di-RaimondoRoberto Marasca, Francesco Forconi, Giovanni Del Poeta, Gianluca Gaidano, Valter Gattei

Risultato della ricerca: Contributo in rivistaArticolo in rivista

90 Citazioni (Scopus)


Genetic lesions and B-cell receptor (BCR) signaling are both oncogenic drivers in chronic lymphocytic leukemia (CLL). However, scant data are available on preferential associations between specific genetic alterations and stereotyped BCR subsets. By analyzing 1419 cases, 2 CLL subsets (2 and 8) harboring stereotyped BCR are enriched in specific molecular alterations influencing disease course. SF3B1 mutations are the genetic hallmark of IGHV3-21-CLL belonging to subset 2 (52%) but are evenly represented in nonstereotyped IGHV3-21-CLL. Trisomy 12 (87%) and NOTCH1 mutations (62%) characterize IGHV4-39-CLL belonging to subset 8 but occur with the expected frequency in IGHV4-39-CLL with heterogeneous BCR. Clinically, co-occurrence of SF3B1 mutations and subset 2 BCR configuration prompts disease progression in IGHV3-21-CLL, whereas cooperation between NOTCH1 mutations, +12, and subset 8 BCR configuration invariably primes CLL transformation into Richter syndrome. These findings provide a proof of concept that specific stereotyped BCR may promote or select molecular lesions influencing outcome.
Lingua originaleEnglish
pagine (da-a)4902-4905
Numero di pagine4
Stato di pubblicazionePubblicato - 2013


  • Adult
  • Aged
  • B-Lymphocyte Subsets
  • Disease-Free Survival
  • Female
  • Follow-Up Studies
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell
  • Male
  • Middle Aged
  • Phosphoproteins
  • Point Mutation
  • Receptor, Notch1
  • Receptors, Antigen, B-Cell
  • Retrospective Studies
  • Ribonucleoprotein, U2 Small Nuclear
  • Survival Rate


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