Next-generation sequencing in chronic lymphocytic leukemia

Seminars in Hematology

Volumn 50, Issue 4, 2013, Pages 286-295

  Villamor, Neus ^a   López Guillermo, Armando ^a   López Otín, Carlos ^b   Campo, Elías ^a,c  

^a INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^b DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORAMBUCIL; CYCLOPHOSPHAMIDE; FLUDARABINE; IMMUNOGLOBULIN HEAVY CHAIN; MYELOID DIFFERENTIATION FACTOR 88; NOTCH1 RECEPTOR;

ARTICLE; BIRC3 GENE; CANCER PROGNOSIS; CANCER SURVIVAL; CHRONIC LYMPHATIC LEUKEMIA; GENE; GENETIC PROCEDURES; GENETIC RISK; HUMAN; IGHV GENE; LEUKEMOGENESIS; MOLECULAR CLONING; MYD88 GENE; NEXT GENERATION SEQUENCING; NOTCH1 GENE; NUCLEIC ACID BASE SUBSTITUTION; POT1 GENE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); SF3B1 GENE; SI GENE; SOMATIC MUTATION; TREATMENT RESPONSE;

HUMANS; INHIBITOR OF APOPTOSIS PROTEINS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MUTATION; PROGNOSIS; RECEPTOR, NOTCH1;

EID: 84887528350     PISSN: 00371963     EISSN: 15328686     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2013.09.005     Document Type: Article

References (48)

1. Gaidano G., Foa R., la-Favera R. Molecular pathogenesis of chronic lymphocytic leukemia. J Clin Invest 2012, 122:3432-3438.
2. Zenz T., Mertens D., Kuppers R., et al. From pathogenesis to treatment of chronic lymphocytic leukaemia. Nat Rev Cancer 2010, 10:37-50.
3. Zenz T., Gribben J.G., Hallek M., et al. Risk categories and refractory CLL in the era of chemoimmunotherapy. Blood 2012, 119:4101-4107.
4. Kulis M., Heath S., Bibikova M., et al. Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nat Genet 2012, 44:1236-1242.
5. Seifert M., Sellmann L., Bloehdorn J., et al. Cellular origin and pathophysiology of chronic lymphocytic leukemia. J Exp Med 2012, 209:2183-2198.
6. Meyerson M., Gabriel S., Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 2010, 11:685-696.
7. Hudson T.J., Anderson W., Artez A., et al. International network of cancer genome projects. Nature 2010, 464:993-998.
8. 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.
9. Puente X.S., Pinyol M., Quesada V., et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011, 475:101-105.
10. Wang L., Lawrence M.S., Wan Y., et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011, 365:2497-2506.
11. Tiacci E., Schiavoni G., Forconi F., et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood 2012, 119:192-195.
12. Lohr J.G., Stojanov P., Lawrence M.S., et al. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A 2012, 109:3879-3884.
13. Morin R.D., Mendez-Lago M., Mungall A.J., et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 2011, 476:298-303.
14. Pasqualucci L., Trifonov V., Fabbri G., et al. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet 2011, 43:830-837.
15. Love C., Sun Z., Jima D., et al. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet 2012, 44:1321-1325.
16. Schmitz R., Young R.M., Ceribelli M., et al. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature 2012, 490:116-120.
17. Chapman M.A., Lawrence M.S., Keats J.J., et al. Initial genome sequencing and analysis of multiple myeloma. Nature 2011, 471:467-472.
18. Campo E. Whole genome profiling and other high throughput technologies in lymphoid neoplasms-current contributions and future hopes. Mod Pathol 2013, 26(Suppl 1). S97-110.
19. Landau D.A., Carter S.L., Stojanov P., et al. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell 2013, 152:714-726.
20. Quesada V., Conde L., Villamor N., et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2012, 44:47-52.
21. Ramsay A.J., Rodriguez D., Villamor N., et al. Frequent somatic mutations in components of the RNA processing machinery in chronic lymphocytic leukemia. Leukemia 2013, 27:1600-1603.
22. Schuh A., Becq J., Humphray S., et al. Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns. Blood 2012, 120:4191-4196.
23. Treon S.P., Xu L., Yang G., et al. MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med 2012, 367:826-833.
24. Ngo V.N., Young R.M., Schmitz R., et al. Oncogenically active MYD88 mutations in human lymphoma. Nature 2011, 470:115-119.
25. Oscier D.G., Rose-Zerilli M.J., Winkelmann N., et al. The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial. Blood 2013, 121:468-475.
26. 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.
27. 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.
28. 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.
29. Weng A.P., Ferrando A.A., Lee W., et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 2004, 306:269-271.
30. 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.
31. 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.
32. Del Poeta G., Dal B.o.M., Del Principe M.I., et al. Clinical significance of c.7544-7545 delCT NOTCH1 mutation in chronic lymphocytic leukaemia. Br J Haematol 2013, 160:415-418.
33. Shedden K., Li Y., Ouillette P., et al. Characteristics of chronic lymphocytic leukemia with somatically acquired mutations in NOTCH1 exon 34. Leukemia 2012, 26:1108-1110.
34. Villamor N., Conde L., Martinez-Trillos A., et al. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome. Leukemia 2012, 27:1100-1106.
35. Balatti V., Bottoni A., Palamarchuk A., et al. NOTCH1 mutations in CLL associated with trisomy 12. Blood 2012, 119:329-331.
36. Lopez C., Delgado J., Costa D., et al. Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations. Genes Chromosomes Cancer 2012, 51:881-889.
37. 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.
38. Mansouri L., Cahill N., Gunnarsson R., et al. NOTCH1 and SF3B1 mutations can be added to the hierarchical prognostic classification in chronic lymphocytic leukemia. Leukemia 2013, 27:512-514.
39. Rasi S., Monti S., Spina V., et al. Analysis of NOTCH1 mutations in monoclonal B-cell lymphocytosis. Haematologica 2012, 97:153-154.
40. Rossi D., Rasi S., Spina V., et al. Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood 2013, 121:1403-1412.
41. Schwaederle M., Ghia E., Rassenti L., et al. Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia. Leukemia 2013, 27:1214-1217.
42. Dreger P., Schnaiter A., Zenz T., et al. TP53, SF3B1, AND NOTCH1 mutations and outcome of allotransplantation for chronic lymphocytic leukemia: six-year follow-up of the GCLLSG CLL3X trial. Blood 2013, 121:3284-3288.
43. Ramsay A.J., Quesada V., Foronda M., et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet 2013, 45:526-530.
44. Rodriguez D, Ramsay AJ, Quesada V, et al. Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients. Hum Mol Genet. 2013;22:2273-82.
45. Wiltz O., O'Hara C.J., Steele G.D., et al. Sucrase-isomaltase: a marker associated with the progression of adenomatous polyps to adenocarcinomas. Surgery 1990, 108:269-275.
46. Velusamy T., Palanisamy N., Kalyana-Sundaram S., et al. Recurrent reciprocal RNA chimera involving YPEL5 and PPP1CB in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 2013, 110:3035-3040.
47. Puente X.S., Lopez-Otin C. The evolutionary biography of chronic lymphocytic leukemia. Nat Genet 2013, 45:229-231.
48. 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.