New boys in town: prognostic role of SF3B1, NOTCH1 and other cryptic alterations in chronic lymphocytic leukemia and how it works

References

• Seke Etet PF, Vecchio L, Nwabo Kamdje AH. Interactions between bone marrow stromal microenvironment and B-chronic lymphocytic leukemia cells: any role for Notch, Wnt and Hh signaling pathways?. Cell Signal 2012;24:1433–1443.
   PubMed Web of Science ®Google Scholar
• Rossi D, Bruscaggin A, Spina V, et al. Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. Blood 2011;118:6904–6908.
   PubMed Web of Science ®Google Scholar
• Rossi D, Rasi S, Spina V, et al. Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome. Br J Haematol 2012;158:426–429.
   PubMed Web of Science ®Google Scholar
• Wang L, Lawrence MS, Wan Y, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011;365: 2497–2506.
   PubMed Web of Science ®Google Scholar
• Puente XS, Pinyol M, Quesada V, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011;475:101–105.
   PubMed Web of Science ®Google Scholar
• Gunnarsson R, Mansouri L, Rosenquist R. Exploring the genetic landscape in chronic lymphocytic leukemia using high-resolution technologies. Leuk Lymphoma 2012 Nov 21. [Epub ahead of print]
   Web of Science ®Google Scholar
• Balatti V, Bottoni A, Palamarchuk A, et al. NOTCH1 mutations in CLL associated with trisomy 12. Blood 2012;119:329–331.
   PubMed Web of Science ®Google Scholar
• Fabbri G, Rasi S, Rossi D, et al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med 2011;208:1389–1401.
   PubMed Web of Science ®Google Scholar
• Hahn CN, Scott HS. Spliceosome mutations in hematopoietic malignancies. Nat Genet 2011;44:9–10.
   PubMed Web of Science ®Google Scholar
• Quesada V, Ramsay AJ, Lopez-Otin C. Chronic lymphocytic leukemia with SF3B1 mutation. N Engl J Med 2012;366:2530.
   PubMed Web of Science ®Google Scholar
• Oscier DG, Rose-Zerilli MJ, Winkelmann N, et al. The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial. Blood 2013;121:468–475.
   PubMed Web of Science ®Google Scholar
• Mori J, Takahashi Y, Tanimoto T. SF3B1 in chronic lymphocytic leukemia. N Engl J Med 2012;366:1057; author reply 1057–1058.
   PubMed Web of Science ®Google Scholar
• Rossi D, Rasi S, Fabbri G, et al. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood 2012;119:521–529.
   PubMed Web of Science ®Google Scholar
• Greco M, Capello D, Bruscaggin A, et al. Analysis of SF3B1 mutations in monoclonal B-cell lymphocytosis. Hematol Oncol 2012 Mar 29. [Epub ahead of print]
   PubMed Web of Science ®Google Scholar
• Rosati E, Sabatini R, Rampino G, et al. Constitutively activated Notch signaling is involved in survival and apoptosis resistance of B-CLL cells. Blood 2009;113:856–865.
   PubMed Web of Science ®Google Scholar
• Balatti V, Lerner S, Rizzotto L, et al. Trisomy 12 CLLs progress through NOTCH1 mutations. Leukemia 2012 Aug 20. [Epub ahead of print]
   PubMed Web of Science ®Google Scholar
• Wickremasinghe RG, Prentice AG, Steele AJ. p53 and Notch signaling in chronic lymphocytic leukemia: clues to identifying novel therapeutic strategies. Leukemia 2011;25:1400–1407.
   PubMed Web of Science ®Google Scholar
• Di Ianni M, Baldoni S, Rosati E, et al. A new genetic lesion in B-CLL: a NOTCH1 PEST domain mutation. Br J Haematol 2009;146:689–691.
   PubMed Web of Science ®Google Scholar
• Del Giudice I, Rossi D, Chiaretti S, et al. NOTCH1 mutations in + 12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of + 12 CLL. Haematologica 2012;97:437–441.
   PubMed Web of Science ®Google Scholar
• De Keersmaecker K, Michaux L, Bosly A, et al. Rearrangement of NOTCH1 or BCL3 can independently trigger progression of CLL. Blood 2012;119:3864–3866.
   PubMed Web of Science ®Google Scholar
• Sportoletti P, Baldoni S, Cavalli L, et al. NOTCH1 PEST domain mutation is an adverse prognostic factor in B-CLL. Br J Haematol 2010; 151:404–406.
   PubMed Web of Science ®Google Scholar
• Rossi D, Fangazio M, Rasi S, et al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood 2012;119:2854–2862.
   PubMed Web of Science ®Google Scholar
• Ngo VN, Young RM, Schmitz R, et al. Oncogenically active MYD88 mutations in human lymphoma. Nature 2011;470:115–119.
   PubMed Web of Science ®Google Scholar
• Rossi D, Rasi S, Spina V, et al. Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood 2013 Jan 7. [Epub ahead of print]
   Web of Science ®Google Scholar
• Lapalombella R, Sun Q, Williams K, et al. Selective inhibitors of nuclear export show that CRM1/XPO1 is a target in chronic lymphocytic leukemia. Blood 2012;120:4621–4634.
   PubMed Web of Science ®Google Scholar
• Stade K, Ford CS, Guthrie C, et al. Exportin 1 (Crm1p) is an essential nuclear export factor. Cell 1997;90:1041–1050.
   PubMed Web of Science ®Google Scholar
• Grossmann V, Kohlmann A, Schnittger S, et al. Acquisition of TP53 mutations in chronic lymphocytic leukemia (CLL) patients during the course of disease is associated with an unmutated IGHV status and mutations in XPO1 and SF3B1. Blood 2012;120 (Suppl. 1): Abstract 1768.
   Web of Science ®Google Scholar
• Mohr J, Helfrich H, Fuge M, et al. DNA damage-induced transcriptional program in CLL: biological and diagnostic implications for functional p53 testing. Blood 2011;117:1622–1632.
   PubMed Web of Science ®Google Scholar
• Zenz T, Vollmer D, Trbusek M, et al. TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. Leukemia 2010;24:2072–2079.
   PubMed Web of Science ®Google Scholar
• Zenz T, Gribben JG, Hallek M, et al. Risk categories and refractory CLL in the era of chemoimmunotherapy. Blood 2012;119:4101–4107.
   PubMed Web of Science ®Google Scholar
• Karin M, Gallagher E. TNFR signaling: ubiquitin-conjugated TRAFfic signals control stop-and-go for MAPK signaling complexes. Immunol Rev 2009;228:225–240.
   PubMed Web of Science ®Google Scholar
• Conze DB, Zhao Y, Ashwell JD. Non-canonical NF-κB activation and abnormal B cell accumulation in mice expressing ubiquitin protein ligase-inactive c-IAP2. PLoS Biol 2010;8:e1000518.
   PubMed Web of Science ®Google Scholar
• Varfolomeev E, Goncharov T, Maecker H, et al. Cellular inhibitors of apoptosis are global regulators of NF-κB and MAPK activation by members of the TNF family of receptors. Sci Signal 2012;5:ra22.
   Web of Science ®Google Scholar
• Gardam S, Turner VM, Anderton H, et al. Deletion of cIAP1 and cIAP2 in murine B lymphocytes constitutively activates cell survival pathways and inactivates the germinal center response. Blood 2011; 117:4041–4051.
   PubMed Web of Science ®Google Scholar
• Rose-Zerilli MJJ, Forster J, Parker H, et al. The correlation between deletion architecture, ATM mutational status and BIRC3 disruption in 11q-deleted CLL. Blood 2012;120 (Suppl. 1): Abstract 658.
   Google Scholar
• Hallek M, Cheson BD, Catovsky D, et al. Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 2008;111:5446–5456.
   PubMed Web of Science ®Google Scholar
• Stilgenbauer S, Busch R, Schnaiter A, et al. Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial. Blood 2012;120 (Suppl. 1): Abstract 433.
   PubMed Web of Science ®Google Scholar
• Schnaiter A, Rossi M, Paschka P, et al. NOTCH1, SF3B1 and TP53 mutations in fludarabine-refractory CLL patients treated with alemtuzumab: results from the CLL2H trial of the GCLLSG. Blood 2012; 120 (Suppl. 1): Abstract 710.
   Web of Science ®Google Scholar
• Zenz T, Eichhorst B, Busch R, et al. TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol 2010;28:4473–4479.
   PubMed Web of Science ®Google Scholar
• Audrito V, Vaisitti T, Serra S, et al. Targeting the microenvironment in chronic lymphocytic leukemia offers novel therapeutic options. Cancer Lett 2013;328:27–35.
   PubMed Web of Science ®Google Scholar
• Rossi D, Fangazio M, Gaidano G. The spectrum of genetic defects in chronic lymphocytic leukemia. Mediterr J Hematol Infect Dis 2012;4:e2012076.
   PubMedGoogle Scholar
• Maciejewski JP, Padgett RA. Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol 2012;158:165–173.
   PubMed Web of Science ®Google Scholar
• te Raa D, Derks IAM, Luijks DM, et al. SF3B1 mutations in CLL are equivalent to p53/ATM dysfunction and cause defective Puma upregulation in response to chemotherapy. Blood 2012;120 (Suppl. 1): Abstract 711.
   Web of Science ®Google Scholar
• Del Poeta G, Dal Bo M, Del Principe MI, et al. Clinical significance of NOTCH1 mutations in chronic lymphocytic leukemia. Blood 2012;120 (Suppl. 1): Abstract 2870.
   Web of Science ®Google Scholar