TY - JOUR
T1 - Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome
AU - Rossi, Davide
AU - Rasi, Silvia
AU - Spina, Valeria
AU - Fangazio, Marco
AU - Monti, Sara
AU - Greco, Mariangela
AU - Ciardullo, Carmela
AU - Famà, Rosella
AU - Cresta, Stefania
AU - Bruscaggin, Alessio
AU - Laurenti, Luca
AU - Martini, Maurizio
AU - Musto, Pellegrino
AU - Forconi, Francesco
AU - Marasca, Roberto
AU - Larocca, Luigi Maria
AU - Foà, Robin
AU - Gaidano, Gianluca
PY - 2012
Y1 - 2012
N2 - Richter syndrome (RS) represents the development of an
aggressive lymphoma, most commonly diffuse large B-cell
lymphoma (DLBCL), in the context of chronic lymphocytic
leukaemia (CLL). At least two types of RS exist: (i) transformation
of CLL into a clonally related DLBCL, that accounts
for ~80% of cases; and (ii) development of a DLBCL unrelated
to the CLL clone. Clonally related RS and clonally
unrelated RS are distinct disorders (Rossi et al, 2011a). Clinically,
transformation into a clonally related RS is frequently
lethal with an expected survival of a few months, while CLL
patients developing a clonally unrelated RS display a survival
probability in the range of de novo DLBCL (Rossi et al,
2011a). Biologically, clonally related RS frequently acquire
genetic lesions of TP53, MYC and NOTCH1, which are
otherwise absent or exceptional in clonally unrelated RS
(Rossi et al, 2011a).
AB - Richter syndrome (RS) represents the development of an
aggressive lymphoma, most commonly diffuse large B-cell
lymphoma (DLBCL), in the context of chronic lymphocytic
leukaemia (CLL). At least two types of RS exist: (i) transformation
of CLL into a clonally related DLBCL, that accounts
for ~80% of cases; and (ii) development of a DLBCL unrelated
to the CLL clone. Clonally related RS and clonally
unrelated RS are distinct disorders (Rossi et al, 2011a). Clinically,
transformation into a clonally related RS is frequently
lethal with an expected survival of a few months, while CLL
patients developing a clonally unrelated RS display a survival
probability in the range of de novo DLBCL (Rossi et al,
2011a). Biologically, clonally related RS frequently acquire
genetic lesions of TP53, MYC and NOTCH1, which are
otherwise absent or exceptional in clonally unrelated RS
(Rossi et al, 2011a).
KW - Aged
KW - Genetic Predisposition to Disease
KW - Humans
KW - Leukemia, Lymphocytic, Chronic, B-Cell
KW - Lymphoma, Large B-Cell, Diffuse
KW - Mutation
KW - Phosphoproteins
KW - Receptor, Notch1
KW - Ribonucleoprotein, U2 Small Nuclear
KW - Syndrome
KW - Aged
KW - Genetic Predisposition to Disease
KW - Humans
KW - Leukemia, Lymphocytic, Chronic, B-Cell
KW - Lymphoma, Large B-Cell, Diffuse
KW - Mutation
KW - Phosphoproteins
KW - Receptor, Notch1
KW - Ribonucleoprotein, U2 Small Nuclear
KW - Syndrome
UR - http://hdl.handle.net/10807/39912
U2 - 10.1111/j.1365-2141.2012.09155.x
DO - 10.1111/j.1365-2141.2012.09155.x
M3 - Article
SN - 1365-2141
VL - 158
SP - 426
EP - 429
JO - British Journal of Haematology
JF - British Journal of Haematology
ER -