Richter syndrome

Advances in Experimental Medicine and Biology

Volumn 792, Issue , 2013, Pages 173-191

  Rossi, Davide ^a   Gaidano, Gianluca ^a  

^a Amedeo Avogadro University   (Italy)

Author keywords

Chronic lymphocytic leukemia; Diffuse large B cell lymphoma; Hodgkin lymphoma; Immunoglobulin genes; MYC; NOTCH1; Prognosis; Richter syndrome; TP53; Transformation; Treatment

Indexed keywords

ALEMTUZUMAB; BLEOMYCIN; CHLORMETHINE; CISPLATIN; CYCLOPHOSPHAMIDE; DACARBAZINE; DEXAMETHASONE; DOXORUBICIN; FLUDARABINE; FLUORODEOXYGLUCOSE F 18; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; IBRITUMOMAB TIUXETAN; METHOTREXATE; NOTCH1 RECEPTOR; OXALIPLATIN; PREDNISOLONE; PROCARBAZINE; PROTEIN P53; RITUXIMAB; VINBLASTINE; VINCRISTINE;

ARTICLE; BLOOD TOXICITY; CANCER INCIDENCE; CANCER PROGNOSIS; CANCER RADIOTHERAPY; CANCER RISK; CANCER SURVIVAL; CHRONIC LYMPHATIC LEUKEMIA; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; DISEASE ACTIVITY; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HEALTH CARE POLICY; HISTOPATHOLOGY; HODGKIN DISEASE; HUMAN; INFECTION; LARGE CELL LYMPHOMA; LYMPHOMA; MALIGNANT TRANSFORMATION; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NEUTROPENIA; NOTCH1 GENE; ONCOGENE; ONCOGENE MYC; OVERALL SURVIVAL; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; RADIOIMMUNOTHERAPY; RISK ASSESSMENT; RISK FACTOR; RITCHER SYNDROME; SIGNAL TRANSDUCTION; STEM CELL TRANSPLANTATION; SURVIVAL RATE; THROMBOCYTOPENIA; TUMOR SUPPRESSOR GENE;

EID: 84934434417     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-8051-8_8     Document Type: Article

References (57)

1. Müller-Hermelink HK, Montserrat E, Catovsky D, Campo E, Harris NL, Stein H. Chronic lymphocytic leukemia/small lymphocytic lymphoma. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, editors. World Health Organization classification of tumours, pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2008. p. 180-2.
2. 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;111:5446-56.
3. Cherepakhin V, Baird SM, Meisenholder GW, Kipps TJ. Common clonal origin of chronic lymphocytic leukemia and high-grade lymphoma of Richter's syndrome. Blood. 1993;82: 3141-7.
4. Matolcsy A, Inghirami G, Knowles DM. Molecular genetic demonstration of the diverse evolution of Richter's syndrome (chronic lymphocytic leukemia and subsequent large cell lymphoma). Blood. 1994;83:1363-72.
5. Aoki H, Takishita M, Kosaka M, Saito S. Frequent somatic mutations in D and/or JH segments of Ig gene in Waldenstrom's macroglobulinemia and chronic lymphocytic leukemia (CLL) with Richter's syndrome but not in common CLL. Blood. 1995;85:1913-9.
6. Timar B, Fulop Z, Csernus B, et al. Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome. Leukemia. 2004;18:326-30.
7. Rossi D, Berra E, Cerri M, et al. Aberrant somatic hypermutation in transformation of follicular lymphoma and chronic lymphocytic leukemia to diffuse large B-cell lymphoma. Haematologica. 2006;91:1405-9.
8. Smit LA, van Maldegem F, Langerak AW, et al. Antigen receptors and somatic hypermutation in B-cell chronic lymphocytic leukemia with Richter's transformation. Haematologica. 2006; 91:903-11.
9. Mao Z, Quintanilla-Martinez L, Raffeld M, et al. IgVH mutational status and clonality analysis of Richter's transformation. Am J Surg Pathol. 2007;31:1605-14.
10. Rossi D, Spina V, Cerri M, et al. Stereotyped B-cell receptor is an independent risk factor of chronic lymphocytic leukemia transformation to Richter syndrome. Clin Cancer Res. 2009;15: 4415-22.
11. Rossi D, Spina V, Deambrogi C, et al. The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. Blood. 2011;117:3391-401.
12. O'Brien SM, Kantarjian HM, Thomas DA, et al. Alemtuzumab as treatment for residual disease after chemotherapy in patients with chronic lymphocytic leukemia. Cancer. 2003;98: 2657-63.
13. Karlsson C, Norin S, Kimby E, et al. Alemtuzumab as first-line therapy for B-cell chronic lymphocytic leukemia: long-term follow-up of clinical effects, infectious complications and risk of Richter transformation. Leukemia. 2006;20:2204-7.
14. Kluin-Nelemans HC, Coenen JL, Boers JE, van Imhoff GW, Rosati S. EBV-positive immunodeficiency lymphoma after alemtuzumab-CHOP therapy for peripheral T-cell lymphoma. Blood. 2008;112:1039-41.
15. Lepretre S, Aurran T, Mahé B, et al. Excess mortality after treatment with fludarabine and cyclophosphamide in combination with alemtuzumab in previously untreated patients with chronic lymphocytic leukemia in a randomized phase 3 trial. Blood. 2012;119:5104-10.
16. Keating MJ, O'Brien S, Lerner S, et al. Long-term follow-up of patients with chronic lymphocytic leukemia (CLL) receiving fludarabine regimens as initial therapy. Blood. 1998;92:1165-71.
17. Tabuteau S, Fernandez J, Garidi R, Desablens B. Richter's syndrome in B-CLL: report of 37 cases. Blood. (ASH Annual Meeting Abstracts) 1999;34(Suppl 1):306b.
18. Mauro FR, Foa R, Giannarelli D, et al. Clinical characteristics and outcome of young chronic lymphocytic leukemia patients: a single institution study of 204 cases. Blood. 1999;94:448-54.
19. Robak T, Blonski JZ, Gora-Tybor J, et al. Second malignancies and Richter's syndrome in patients with chronic lymphocytic leukaemia treated with cladribine. Eur J Cancer. 2004;40: 383-9.
20. Thornton PD, Bellas C, Santon A, et al. Richter's transformation of chronic lymphocytic leukemia. The possible role of fludarabine and the Epstein-Barr virus in its pathogenesis. Leuk Res. 2005;29:389-95.
21. Maddocks-Christianson K, Slager SL, Zent CS, et al. Risk factors for development of a second malignancy in patients with chronic lymphocytic leukaemia. Br J Haematol. 2007;139: 398-404.
22. Tsimberidou A-M, O'Brien S, Khouri I, et al. Clinical outcomes and prognostic factors in patients with Richter's syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. J Clin Oncol. 2006;24:2343-51.
23. Alipour S, Leiitch H, Vickars LM, et al. Richter transformation of chronic lymphocytic leukemia: incidence, risk factors and outcome. Blood. (ASH Annual Meeting Abstracts) 2008;112:3179.
24. Rossi D, Cerri M, Capello D, Deambrogi C, et al. Biological and clinical risk factors of chronic lymphocytic leukaemia transformation to Richter syndrome. Br J Haematol. 2008;142: 202-15.
25. Solh M, Rai KR, Peterson BL, et al. The impact of initial fludarabine therapy on transformation to Richter's syndrome or prolymphocytic leukemia in patients with chronic lymphocytic leukemia: analysis of an intergroup trial (CALGB 9011). Leuk Lymphoma. 2013;54(2): 252-4. doi:10.3109/10428194.2012. 710327.
26. Fischer K, Bahlo J, Fink AM, et al. Extended follow up of the CLL8 protocol, a randomized phase-III trial of the German CLL study group (GCLLSG) comparing fludarabine and cyclophosphamide (FC) to FC plus rituximab (FCR) for previously untreated patients with chronic lymphocytic leukemia (CLL): results on survival, progression-free survival, delayed neutropenias and secondary malignancies confirm superiority of the FCR regimen. Blood. (ASH Annual Meeting Abstracts) 2012;120:435.
27. Parikh SA, Rabe KG, Kay NE, et al. Transformation of chronic lymphocytic leukemia into diffuse large B-cell lymphoma (Richter's syndrome): large retrospective analysis from a single institution. Blood. (ASH Annual Meeting Abstracts) 2012;120:2902.
28. Catovsky D, Richards S, Matutes E, et al. Assessment of fludarabine plus cyclophosphamide for patients with chronic lymphocytic leukaemia (the LRF CLL4 trial): a randomised controlled trial. Lancet. 2007;370:230-9.
29. Rossi D, Rasi S, Spina V, et al. Different impact of NOTCH1and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome. Br J Haematol. 2012; 158:426-9.
30. Lobry C, Oh P, Aifantis I. Oncogenic and tumor suppressor functions of Notch in cancer: it's NOTCH what you think. J Exp Med. 2011;208:1931-5.
31. Fabbri G, Rasi S, Rossi D, Trifonov V, Khiabanian H, Ma J, et al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med. 2011;208:1389-401.
32. Puente XS, Pinyol M, Quesada V, Conde L, Ordo'n?ez GR, Villamor N, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 2011;475:101-5.
33. Rossi D, Rasi S, Fabbri G, Spina V, Fangazio M, Forconi F, et al. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood. 2012;119: 521-9.
34. De Keersmaecker K, Michaux L, Bosly A, et al. Rearrangement of NOTCH1 or BCL3 can independently trigger progression of CLL. Blood. 2012;119:3864-6.
35. Agathangelidis A, Darzentas N, Hadzidimitriou A, et al. Stereotyped B-cell receptors in one-third of chronic lymphocytic leukemia: a molecular classification with implications for targeted therapies. Blood. 2012;119:4467-75.
36. Chu CC, Catera R, Zhang L, et al. Many chronic lymphocytic leukemia antibodies recognize apoptotic cells with exposed nonmuscle myosin heavy chain IIA: implications for patient outcome and cell of origin. Blood. 2010;115:3907-15.
37. Gounari M, Ntoufa S, Chu CC, et al. Promiscuous antigen reactivity may underlie clinical aggressiveness and increased risk for richter's syndrome in chronic lymphocytic leukemia with stereotyped IGHV4-39/IGKV1(D)-39 B cell receptors. Blood. (ASH Annual Meeting Abstracts) 2012;120:561.
38. Tsimberidou AM, O'Brien S, Kantarjian HM, et al. Hodgkin transformation of chronic lymphocytic leukemia: the M. D. Anderson Cancer Center experience. Cancer. 2006;107: 1294-302.
39. Bockorny B, Codreanu I, Dasanu CA. Hodgkin lymphoma as Richter transformation in chronic lymphocytic leukaemia: a retrospective analysis of world literature. Br J Haematol. 2012;156:50-66.
40. Ohno T, Smir BN, Weisenburger DD, Gascoyne RD, Hinrichs SD, Chan WC. Origin of the Hodgkin/Reed-Sternberg cells in chronic lymphocytic leukemia with "Hodgkin's transformation". Blood. 1998;91:1757-61.
41. van den Berg A, Maggio E, Rust R, Kooistra K, Diepstra A, Poppema S. Clonal relation in a case of CLL, ALCL, and Hodgkin composite lymphoma. Blood. 2002;100:1425-9.
42. de Leval L, Vivario M, De Prijck B, et al. Distinct clonal origin in two cases of Hodgkin's lymphoma variant of Richter's syndrome associated with EBV infection. Am J Surg Pathol. 2004;28:679-86.
43. Brown CJ, Lain S, Verma CS, Fersht AR, Lane DP. Awakening guardian angels: drugging the p53 pathway. Nat Rev Cancer. 2009;9:862-73.
44. de Paoli L, Cerri M, Monti S, et al. MGA, a suppressor of MYC, is recurrently inactivated in high risk chronic lymphocytic leukemia. Leuk Lymphoma. 2013;54(5):1087-90. doi:10.3109/ 10428194.2012.723706.
45. Casco'n A, Robledo M. MAX and MYC: a heritable breakup. Cancer Res. 2012;72:3119-24.
46. Cohen Y, Da'as N, Libster D, Amir G, Berrebi A, Polliack A. Large-cell transformation of chronic lymphocytic leukemia and follicular lymphoma during or soon after treatment with fludarabine-rituximab containing regimens: natural history or related therapy complication. Eur J Hematol. 2002;68:80-3.
47. Bruzzi JF, Macapinlac H, Tsimberidou AM, et al. Detection of Richter's transformation of chronic lymphocytic leukemia by PET/CT. J Nucl Med. 2006;47:1267-73.
48. Dabaja BS, O'Brien SM, Kantarjian HM, et al. Fractionated cyclophosphamide, vincristine, liposomal daunorubicin (daunoXome), and dexamethasone (hyper-CVXD) regimen in Richter's syndrome. Leuk Lymphoma. 2001;42:329-37.
49. Tsimberidou AM, Kantarjian HM, Cortes J, et al. Fractionated cyclophosphamide, vincristine, liposomal daunorubicin, and dexamethasone plus rituximab and granulocyte-macrophagecolony stimulating factor (GM-CSF) alternating with methotrexate and cytarabine plus rituximab and GMCSF in patients with Richter syndrome or fludarabine refractory chronic lymphocytic leukemia. Cancer. 2003;97:1711-20.
50. Tsimberidou AM, O'Brien SM, Cortes JE, et al. Phase II study of fludarabine, cytarabine (Ara-C), cyclophosphamide, cisplatin and GM-CSF (FACPGM) in patients with Richter's syndrome or refractory lymphoproliferative disorders. Leuk Lymphoma. 2002;43:767-72.
51. Tsimberidou AM, Murray JL, O'Brien S, Wierda WG, Keating MJ. Yttrium-90 ibritumomab tiuxetan radioimmunotherapy in Richter syndrome. Cancer. 2004;100:2195-200.
52. Jenke P, Eichhorst B, Busch R, et al. Cyclophosphamide, adriamycin, vincristine and prednisone plus rituximab (CHOP-R) in fludarabine (F) refractory chronic lymphocytic leukemia (CLL) or CLL with autoimmune cytopenia (AIC) or Richter's transformation (RT): final analysis of a phase II study of the German CLL study group. Blood. (ASH Annual Meeting Abstracts) 2011;118:2860.
53. Tsimberidou AM, Wierda WG, Plunkett W, et al. Phase I-II study of oxaliplatin, fludarabine, cytarabine, and rituximab combination therapy in patients with Richter's syndrome or fludarabine-refractory chronic lymphocytic leukemia. J Clin Oncol. 2008;26:196-203.
54. Cwynarski K, van Biezen A, de Wreede L, et al. Autologous and allogeneic stem-cell transplantation for transformed chronic lymphocytic leukemia(Richter's syndrome): a retrospective analysis from the chronic lymphocytic leukemia subcommittee of the chronic leukemia working party and lymphoma working party of the European group for blood and marrow transplantation. J Clin Oncol. 2012;30:2211-7.
55. Delmore JE, Issa GC, Lemieux ME, et al. BET bromodomain inhibition as a therapeutic strategy to target c-Myc. Cell. 2011;146:904-17.
56. Wiestner A. Emerging role of kinase targeted strategies in chronic lymphocytic leukemia. Blood. 2012;120:4684-91.
57. Advani RH, Buggy JJ, Sharman JP, Smith SM, Boyd TE, Grant B, et al. Bruton tyrosine kinase inhibitor ibrutinib (PCI-32765) has significant activity in patients with relapsed/refractory B-cell malignancies. J Clin Oncol. 2013;31:88-94.