Best Practice & Research Clinical Haematology
Volume 23, Issue 1 , Pages 3-20 , March 2010

Diagnostic issues in chronic lymphocytic leukaemia (CLL)

  • Estella Matutes, PhD (Reader and Consultant Haematologist)

      Affiliations

    • Section of Haemato-Oncology Department, The Royal Marsden Hospital and Institute of Cancer Research, Fulham Road, London SW3 6JJ, UK
    • Corresponding Author InformationCorresponding author. Tel: +44 20 7808 2609; Fax: +44 20 8722 4221.
    • ,
  • Ayoma Attygalle, PhD (Consultant Pathologist)

      Affiliations

    • Histopathology Department, The Royal Marsden Hospital and Institute of Cancer Research, Fulham Road, London SW3 6JJ, UK
    • ,
  • Andrew Wotherspoon, MB, BcH (Consultant Pathologist)

      Affiliations

    • Histopathology Department, The Royal Marsden Hospital and Institute of Cancer Research, Fulham Road, London SW3 6JJ, UK
    • ,
  • Daniel Catovsky, MD (Emeritus Professor)

      Affiliations

    • Section of Haemato-Oncology Department, The Royal Marsden Hospital and Institute of Cancer Research, Fulham Road, London SW3 6JJ, UK

References 

  1. Cheson BD, Bennett JM, Rai KR, et al. Guidelines for clinical protocols for chronic lymphocytic leukemia (CLL): recommendations of the NCI-sponsored working group. Am J Hematol. 1988;29:153–163
  2. Cheson BD, Bennet JM, Grever M, et al. National cancer institute-sponsored working group guidelines for chronic lymphocytic leukemia: revised guidelines for diagnosis and treatment. Blood. 1996;87:4990–4997
  3. Halleck M, Cheson BD, Catovsky D, et al. Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the international worshop on chronic lymphocytic leukemia updating the national cancer institute working group 1996 guidelines. Blood. 2008;111:5446–5456
  4. In:  Swerdlow SH,  Campo E,  Harris NL, et al. editor. World Health Organization classification of tumours. Pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008;
  5. Marti GE, Rawstron AC, Ghia P, Hillmen P, et al. The International Familial CLL consortium. diagnostic criteria for monoclonal B-cell lymphocytosis. Br J Haematol. 2005;130:325–332
  6. Rawstron AC, Bennett FL, O'Connor SJ, et al. Monoclonal B-cell lymphocytosis and chronic lymphocytic leukemia. N Engl J Med. 2008;359:575–583
  7. Nieto WG, Almeida J, Romero A, et al. Increased frequency (12%) of circulating chronic lymphocytic leukemia-like B-cell clones in healthy subjects using a highly sensitive multicolor flow cytometry approach. Blood. 2009;114:33–37
  8. Rawstron AC, Bennett JM, Fuller J, et al. Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion. Blood. 2002;100:2289–2290
  9. Houlston RS, Sellick G, Yullie M, et al. Causation of chronic lymphocytic leukaemia – insights from familial disease. Leuk Res. 2003;27:871–876
  10. Shanafelt TD, Kay NE, Jenkins G, et al. B-cell count and survival: differentiating chronic lymphocytic leukemia from monoclonal B-cell lymphocytosis based on clinical outcome. Blood. 2009;113:4188–4196
  11. Dagklis A, Fazi C, Sala C, et al. The immunoglobulin gene repertoire of low count chronic lymphocytic leukemia (CLL)-like monoclonal B lymphocytosis is different from CLL: diagnostic implications for clinical monitoring. Blood. 2009;114:26–32
  12. Bennet JM, Catovsky D, Daniel MT, et al. The French-American-British (FAB) Cooperative group. Proposals for the classification of chronic (mature) B and T lymphoid leukemias. J Clin Path. 1989;42:567–584
  13. Matutes E, Oscier D, Garcia Marco J, et al. Trisomy 12 defines a group of CLL with atypical morphology. Correlation between cytogenetic, clinical and laboratory features in 544 patients. 1996 Br J Haematol. 1996;92:382–388
  14. Matutes E, Polliack A. Morphological and immunophenotypic features of chronic lymphocytic leukaemia. Rev Clin Exp Hematol. 2000;4:22–47
  15. Nowakowski GS, Hoyer JD, Shanafelt TD, et al. Percentage of smudge cells on routine blood smear predicts survival in chronic lymphocytic leukemia. J Clin Oncol. 2009;27:1844–1849
  16. Enno A, Catovsky D, O'Brien M, et al. “Prolymphocytoid” transformation of chronic lymphocytic leukaemia. Br J Haematol. 1979;41:9–18
  17. Melo JV, Catovsky D, Galton DAG. The relationship between chronic lymphocytic leukaemia and prolymphocytic leukaemia. I. Clinical and laboratory features of 300 patients and characterization of an intermediate group. Br J Haematol. 1986;63:377–387
  18. Cordone I, Matutes E, Catovsky D. Monoclonal antibody Ki-67 identifies B and T cells in cycle in chronic lymphocytic leukemia: correlation with disease activity. Leukemia. 1992;6:902–906
  19. Del Giudice I, Osuji N, Dexter T, et al. B-cell prolymphocytic leukemia and chronic lymphocytic leukemia have distinctive gene expression signatures. Leukemia. 2009;23:2160–2167
  20. Oscier D, Matutes E, Copplestone A, et al. Atypical morphology: an adverse prognostic factor for disease progression in stage A CLL independent of trisomy 12. Br J Haematol. 1997;98:934–939
  21. Criel A, Wlodarska I, Meeus P, et al. Trisomy 12 is uncommon in typical chronic lymphocytic leukaemia. Br J Haematol. 1994;87:523–528
  22. Huh YO, Lin KI, Vega F, et al. MYC translocation in chronic lymphocytic leukaemia is associated with increased prolymphocytes and a poor prognosis. Br J Haematol. 2008;142:36–44
  23. Hamblin TJ, Davis Z, Gardiner A, et al. Unmutated immunoglobulin VH genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood. 1999;94:1848–1854
  24. Rossi D, Gaidano G. Richter syndrome: molecular insights and clinical perspectives. Hematol Oncol. 2009;27:1–10
  25. 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;15:4415–4422
  26. Thornton PD, Bellas C, Santon A, et al. Richter's transformation of chronic lymphocytic leukemia. The role of fludarabine and the Epstein-Barr virus in its pathogenesis. Leuk Res. 2005;29:389–395
  27. Klein U. Cellular origin of chronic lymphocytic leukaemia. Educational program for the 14th Congress of the European Hematology Association, 2009, pp. 55–60.
  28. Matutes E, Owusu-Ankomah K, Morilla R, et al. The immunological profile of B-cell disorders and proposal of a scoring system for the diagnosis of CLL. Leukemia. 1994;8:1640–1645
  29. Moreau EJ, Matutes E, A'Hern RP, et al. Improvement of the chronic lymphocytic leukemia scoring system with monoclonal antibody SN8 (CD79b). Am J Clin Pathol. 1997;108:378–382
  30. Contos MJ, Kornstein MJ, Innes DJ, Bben-Ezra J. The utility of CD20 and CD43 in subclassification of low-grade B-cell lymphoma on paraffin sections. Mod Pathol. 1992;5:631–633
  31. Jung G, Eisenmmann JC, Thiebault S, Henon P. Cell surface CD43 determination improves diagnostic precision in late B-cell diseases. Br J Haematol. 2003;120:496–499
  32. Palumbo GA, Parrinello N, Fargione G, et al. CD200 expression may help in differential diagnosis between mantle-cell lymphoma and B-cell chronic lymphocytic leucemia. Leuk Res. 2009;33:1212–1216
  33. Delgado J, Matutes E, Morilla AM. Diagnostic significance of CD20 and FMC7 expression in B-cell disorders. 2003 Am J Clin Pathol. 2003;120:754–759
  34. Sanchez ML, Almeida J, Gonzalez D, et al. Incidence and clinicobiologic characteristics of leukemic B-cell chronic lymphoproliferative disorders with more than one B-cell clone. Blood. 2003;102:2994–3002
  35. Damle RN, Wasil T, Fais F, et al. Immunoglobulin V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood. 1999;94:1840–1847
  36. Crespo M, Bosch F, Villamor N, et al. ZAP-70 expression as a surrogate for Immunoglobulin variable region mutations in chronic lymphocytic leukemia. 2003 N Engl J Med. 2003;348:1764–1775
  37. Ibrahim S, Keating M, Do K-A, et al. CD38 expression as an important prognostic factor in B-cell chronic lymphocytic leukemia. Blood. 2001;98:181–186
  38. Morilla A, Gonzalez de Castro D, Del Guidice I, et al. Combinations of ZAP-70, CD38 and IgVH mutational status as predictors of time to first treatment in CLL. Leuk Lymphoma. 2008;49:2108–2115
  39. Ben Ezra J, Burke JS, Swartz WG, et al. Small lymphocytic lymphoma: a clinicopathologic analysis of 268 cases. Blood. 1989;73:579–587
  40. Lampert IA, Wotherspoon A, Van Noorden S, Hasserjian RP. High expression of CD23 in the proliferation centers of chronic lymphocytic leukaemia in lymph nodes and spleen. Hum Pathol. 1999;30:648–654
  41. Abboudi Z, Patel K, Naresh KN. Cyclin D1 expression in typical chronic lymphocytic leukaemia. Eur J Haematol. 2009;83:203–207
  42. Dohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. New Engl J Med. 2000;343:1910–1916
  43. Carizzini F, Hernandez JA, Gozetti A, et al. Chromosome 14q32 translocations involving the immunoglobulin heavy chain locus in chronic lymphocytic leukaemia identify a disease subset with poor prognosis. Br J Haematol. 2008;142:529–537
  44. Matutes E, Carrara P, Coignet L, et al. FISH analysis for BCL-1 rearrangements and trisomy 12 helps the diagnosis of atypical B cell leukaemias. Leukemia. 1999;13:1721–1726
  45. Ruchlemer R, Parry-Jones N, Brito-Babapulle V, et al. B-Prolymphocytic leukaemia with t(11;14) revisited: a splenomegalic form of mantle cell lymphoma evolving with leukaemia. Br J Haematol. 2004;125:330–336
  46. Cuneo A, Bigoni R, Negrini M, et al. Cytogenetic and interphase cytogenetic characterisation of atypical chronic lymphocytic leukemia carrying bcl-1 translocation. Cancer Res. 1997;57:1144–1150
  47. Michaux L, Dierlamm J, Wlodarska I, et al. t(14;19)/BCL3 rearrangements in lymphoproliferative disorders: a review of 23 cases. Cancer Genet Cytogenet. 1997;94:36–43
  48. Huh YO, Abruzzo LV, Rassidakis GZ, et al. The t(11;14)(q32;q13) in B-cell leukemia: a clinicopathologic and cytogenetic study of seven cases best classified as atypical lymphoid leukaemia. Br J Haematol. 2007;136:220–228
  49. Martin-Subero JI, Ibbotson R, Klapper W, et al. A comprehensive genetic and histopathologic analysis identifies two subgroups of B-cell malignancies carrying a t(14;19)(q32;q13) or variant BCL-3 ranslocation. Leukemia. 2007;21:1532–1544
  50. Stamatopoulos K, Belessi C, Moreno C, et al. Over 20% of patients with chronic lymphocytic leukemia carry stereotyped receptors: pathogenetic implications and clinical correlations. Blood. 2007;109:259–270
  51. Klein U, Tu Y, Stolovitzky GA, et al. Gene expression profiling of B cell chronic lymphocytic leukemia reveals a homogeneous phenotype related to memory cells. J Exp Med. 2001;194:1625–1638
  52. Lens D, Matutes E, Catovsky D, Coignet LJA. Frequent deletions at 11q23 and 13q14 in B-cell prolymphocytic leukemia (B-PLL). Leukemia. 2000;14:427–430
  53. Lens D, de Schouwer PJ, Hamoudi RA, et al. P53 abnormalities in B-cell prolymphocytic leukemia. Blood. 1997;89:2015–2023

PII: S1521-6926(10)00002-2

doi: 10.1016/j.beha.2010.01.001

Best Practice & Research Clinical Haematology
Volume 23, Issue 1 , Pages 3-20 , March 2010

Article Tools

* Image Usage & Resolution