Recurrent mutations ofNOTCHgenes in follicular lymphoma identify a distinctive subset of tumours
Tóm tắt
Từ khóa
Tài liệu tham khảo
Swerdlow, 2009, World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues, 4
Lossos, 2011, Transformation of follicular lymphoma, Best Pract Res Clin Haematol, 24, 147, 10.1016/j.beha.2011.02.006
Davies, 2007, Transformation of follicular lymphoma to diffuse large B-cell lymphoma proceeds by distinct oncogenic mechanisms, Br J Haematol, 136, 286, 10.1111/j.1365-2141.2006.06439.x
Kopan, 2009, The canonical Notch signaling pathway: unfolding the activation mechanism, Cell, 137, 216, 10.1016/j.cell.2009.03.045
Fabbri, 2011, Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation, J Exp Med, 208, 1389, 10.1084/jem.20110921
Puente, 2011, Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia, Nature, 475, 101, 10.1038/nature10113
Kridel, 2012, Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma, Blood, 119, 1963, 10.1182/blood-2011-11-391474
Bea, 2013, Landscape of somatic mutations and clonal evolution in mantle cell lymphoma, Proc Natl Acad Sci USA, 110, 18250, 10.1073/pnas.1314608110
Kiel, 2012, Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma, J Exp Med, 209, 1553, 10.1084/jem.20120910
Rossi, 2012, The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development, J Exp Med, 209, 1537, 10.1084/jem.20120904
Weng, 2004, Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia, Science, 306, 269, 10.1126/science.1102160
Malecki, 2006, Leukemia-associated mutations within the NOTCH1 heterodimerization domain fall into at least two distinct mechanistic classes, Mol Cell Biol, 26, 4642, 10.1128/MCB.01655-05
Fryer, 2004, Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover, Mol Cell, 16, 509, 10.1016/j.molcel.2004.10.014
Valera, 2013, MYC protein expression and genetic alterations have prognostic impact in patients with diffuse large B-cell lymphoma treated with immunochemotherapy, Haematologica, 98, 1554, 10.3324/haematol.2013.086173
Agostinelli, 2012, Detection of LIM domain only 2 (LMO2) in normal human tissues and haematopoietic and non-haematopoietic tumours using a newly developed rabbit monoclonal antibody, Histopathology, 61, 33, 10.1111/j.1365-2559.2012.04198.x
Kuchinka, 1995, Interphase cytogenetic analysis of single cell suspensions prepared from previously formalin-fixed and paraffin-embedded tissues, Mod Pathol, 8, 183
van Dongen, 2003, Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936, Leukemia, 17, 2257, 10.1038/sj.leu.2403202
Lopez, 2012, Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations, Genes Chromosomes Cancer, 51, 881, 10.1002/gcc.21972
Lee, 2009, Gain-of-function mutations and copy number increases of Notch2 in diffuse large B-cell lymphoma, Cancer Sci, 100, 920, 10.1111/j.1349-7006.2009.01130.x
Villamor, 2013, NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome, Leukemia, 27, 1100, 10.1038/leu.2012.357
Sander, 1993, p53 mutation is associated with progression in follicular lymphomas, Blood, 82, 1994, 10.1182/blood.V82.7.1994.1994
Takimoto, 1996, Histological progression of follicular lymphoma associated with p53 mutation and rearrangement of the C-MYC gene, Hiroshima J Med Sci, 45, 69
Balatti, 2012, NOTCH1 mutations in CLL associated with trisomy 12, Blood, 119, 329, 10.1182/blood-2011-10-386144
Strefford, 2013, Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2, Leukemia, 27, 2196, 10.1038/leu.2013.98
Fabbri, 2013, Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome, J Exp Med, 210, 2273, 10.1084/jem.20131448
Guo, 2005, Low-grade follicular lymphoma with t(14;18) presents a homogeneous disease entity otherwise the rest comprises minor groups of heterogeneous disease entities with Bcl2 amplification, Bcl6 translocation or other gene aberrances, Leukemia, 19, 1058, 10.1038/sj.leu.2403738
Tagawa, 2007, Trisomy 3 is a specific genomic aberration of t(14;18) negative follicular lymphoma, Leukemia, 21, 2549, 10.1038/sj.leu.2404817
Karube, 2008, BCL6 gene amplification/3q27 gain is associated with unique clinicopathological characteristics among follicular lymphoma without BCL2 gene translocation, Mod Pathol, 21, 973, 10.1038/modpathol.2008.75
Leich, 2009, Follicular lymphomas with and without translocation t(14;18) differ in gene expression profiles and genetic alterations, Blood, 114, 826, 10.1182/blood-2009-01-198580
Katzenberger, 2009, A distinctive subtype of t(14;18)-negative nodal follicular non-Hodgkin lymphoma characterized by a predominantly diffuse growth pattern and deletions in the chromosomal region 1p36, Blood, 113, 1053, 10.1182/blood-2008-07-168682
Mollejo, 2009, Splenic follicular lymphoma: clinicopathologic characteristics of a series of 32 cases, Am J Surg Pathol, 33, 730, 10.1097/PAS.0b013e318193fcef
Pillai, 2009, The follicular versus marginal zone B lymphocyte cell fate decision, Nat Rev Immunol, 9, 767, 10.1038/nri2656
Simonetti, 2013, IRF4 controls the positioning of mature B cells in the lymphoid microenvironments by regulating NOTCH2 expression and activity, J Exp Med, 210, 2887, 10.1084/jem.20131026
Witt, 2003, Notch2 haploinsufficiency results in diminished B1 B cells and a severe reduction in marginal zone B cells, J Immunol, 171, 2783, 10.4049/jimmunol.171.6.2783
Santos, 2007, Notch1 engagement by δ-like-1 promotes differentiation of B lymphocytes to antibody-secreting cells, Proc Natl Acad Sci USA, 104, 15454, 10.1073/pnas.0702891104
Yano, 1992, MYC rearrangements in histologically progressed follicular lymphomas, Blood, 80, 758, 10.1182/blood.V80.3.758.758
Elenitoba-Johnson, 1998, Homozygous deletions at chromosome 9p21 involving p16 and p15 are associated with histologic progression in follicle center lymphoma, Blood, 91, 4677, 10.1182/blood.V91.12.4677
Davies, 2005, A limited role for TP53 mutation in the transformation of follicular lymphoma to diffuse large B-cell lymphoma, Leukemia, 19, 1459, 10.1038/sj.leu.2403802
Pasqualucci, 2014, Genetics of follicular lymphoma transformation, Cell Rep, 6, 130, 10.1016/j.celrep.2013.12.027
Okosun, 2014, Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma, Nat Genet, 46, 176, 10.1038/ng.2856
Real, 2009, γ-Secretase inhibitors reverse glucocorticoid resistance in T cell acute lymphoblastic leukemia, Nat Med, 15, 50, 10.1038/nm.1900
Tosello, 2013, The NOTCH signaling pathway: role in the pathogenesis of T-cell acute lymphoblastic leukemia and implication for therapy, Therap Adv Hematol, 4, 199, 10.1177/2040620712471368