KLINIČKI ZNAČAJ ABERACIJA TP53 GENA I IGHV MUTACIONOG STATUSA U HRONIČNOJ LIMFOCITNOJ LEUKEMIJI
Ključne reči:
hronična limfocitna leukemija, aberacije TP53 gena, IGHV mutacioni status
Sažetak
Hronična limfocitna leukemija (HLL) je izuzetno heterogena bolest varijabilnog kliničkog toka. Sa jedne strane imamo pacijente sa agresivnom i rezistentnom bolešću, od koje umiru svega par meseci nakon dijagnoze, dok sa druge strane spektra postoje pacijenti sa indolentnom, sporo progredirajućom bolešću koja ne zahteva lečenje decenijama. Razlozi ovoga su samo delimično poznati, i već decenijama unazad su tema mnogobrojnih naučnih istraživanja. Tako je razvijen koncept prognostičkih i prediktivnih faktora u HLL-u, koji imaju za cilj da predvide klinički tok, odnosno terapijski ishod HLL-a. Liste prognostičkih i prediktivnih faktora su, sa boljim poznavanjem patofiziologije ove bolesti, svakom godinom sve duže, ali se i međusobno preklapaju. U ovom revijalnom radu izabrali smo aberacije TP53 gena i mutacioni status rearanžiranih IGHV (immunoglobulin heavy variable) gena kao dva najznačajnija i najproučavanija faktora koji imaju uporedo kako prognostički, tako i prediktivni značaj.
Reference
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new agents. Hematology Am Soc Hematol Educ Program. 2016 Dec; 2016(1):149‐155.
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5. Watson CT, Breden F. The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease. Genes Immun. 2012 Jul;13(5):363-373.
6. Giudice ID, Foà R. Another step forward in the 20-year history of IGHV mutations in chronic lymphocytic leukemia. Haematologica. 2019 Feb;104(2):219-221.
7. Damle RN, Wasil T, Fais F, Ghiotto F, Valetto A, Allen SL, et al. IgV gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood. 1999 Sep;94(6):1840–1847.
8. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK. Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood. 1999 Sep;94(6):1848–1854
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10. Sandoval-Sus JD, Chavez JC, Dalia S, Hussnain Naqvi SM, Talati C, Nodzon L et al. Association between immunoglobulin heavy-chain variable region mutational status and isolated favorable baseline genomic aberrations in chronic lymphocytic leukemia. Leuk Lymphoma. 2018 Jan;59(1):59-68.
11. Zenz T, Eichhorst B, Busch R, Denzel T, Häbe S, Winkler D, et al. TP53 Mutation and Survival in Chronic Lymphocytic Leukemia. J Clin Oncol. 2010 Oct;28:4473–4479.
12. Dohner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000 Dec; 343: 1910–1916.
13. Grever MR, Lucas DM, Dewald GW, Neuberg DS, Reed JC, Kitada S, et al. Comprehensive assessment of genetic and molecular features predicting outcome in patients with chronic lymphocytic leukemia: results from the US Intergroup Phase III Trial E2997. J Clin Oncol. 2007;25(7):799-804;
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15. Crespo M, Bosch F, Villamor N, Bellosillo B, Colomer D, Rozman M, et al. ZAP-70
expression as a surrogate for immunoglobulin-variable-region mutations in chronic
lymphocytic leukemia. N Engl J Med. 2003 May; 348(18):1764-1775.
16. Baliakas P, Hadzidimitriou A, Sutton LA, Rossi D, Minga E, Villamor N, et al. European Research Initiative on CLL (ERIC). Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia. 2015 Feb;29(2):329-36.
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29. Kröber A, Seiler T, Benner A, Bullinger L, Brückle E, Lichter P, et al. V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood. 2002 Aug;100(4):1410-6.
30. Jain P, Nogueras Gonzalez GM, Kanagal-Shamanna R, Rozovski U, Sarwari N, Tam C, et al. The absolute percent deviation of IGHV mutation rather than a 98% cut-off predicts survival of chronic lymphocytic leukaemia patients treated with fludarabine, cyclophosphamide and rituximab. Br J Haematol. 2018 Jan; 180: 33–40.
31. Chiorazzi N, Stevenson FK. Celebrating 20 Years of IGHV Mutation Analysis in CLL. Hemasphere. 2020 Jan;4(1):e334.
32. Burger JA, Chiorazzi N. B cell receptor signaling in chronic lymphocytic leukemia. Trends Immunol. 2013 Dec;34(12):592-601.
33. Rozovski U, Keating MJ, Estrov Z. Why Is the Immunoglobulin Heavy Chain Gene Mutation Status a Prognostic Indicator in Chronic Lymphocytic Leukemia?. Acta Haematol. 2018;140(1):51-54.
34. Leroy B, Anderson M, Soussi T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat. 2014 Jun;35(6):672–688.
35. Bieging KT, Mello SS, Attardi LD. Unravelling mechanisms of p53-mediated tumour suppression. Nat Rev Cancer. 2014 May;14(5):359–370.
36. Aitken MJL, Lee HJ, Post SM. Emerging treatment options for patients with p53-pathway-deficient CLL. Ther Adv Hematol. 2019 Dec;10:2040620719891356.
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39. Rossi D, Cerri M, Deambrogi C, Sozzi E, Cresta S, Rasi S, et al. The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of del 17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res. 2009 Feb;15(3):995–1004.
40. Zenz T, Vollmer D, Trbusek M, Smardova J, Benner A, Soussi T, et al. European Research Initiative on CLL (ERIC). TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. Leukemia. 2010 Dec;24(12):2072-9.
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42. Zenz T, Kröber A, Scherer K, Häbe S, Bühler A, Benner A, et al. Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up. Blood. 2008 Oct;112(8):3322–3329.
43. Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, et al. Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice. Cancer Res. 2017 Mar;77(6):1250–1260.
44. Pospisilova S, Gonzalez D, Malcikova J, Trbusek M, Rossi D, Kater AP, et al. ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia. Leukemia. 2012 Jul;26(7):1458–1461.
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333(16):1052-1057.
2. Hallek M. Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification,
and treatment. Am J Hematol. 2017 Sep; 92(9):946-965.
3. Eichhorst B, Hallek M. Prognostication of chronic lymphocytic leukemia in the era of
new agents. Hematology Am Soc Hematol Educ Program. 2016 Dec; 2016(1):149‐155.
4. Cohen JA, Bomben R, Pozzo F, Tissino E, Härzschel A, Hartmann TN, et al. An Updated Perspective on Current Prognostic and Predictive Biomarkers in Chronic Lymphocytic Leukemia in the Context of Chemoimmunotherapy and Novel Targeted Therapy. Cancers. 2020 Apr; 12(4):894.
5. Watson CT, Breden F. The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease. Genes Immun. 2012 Jul;13(5):363-373.
6. Giudice ID, Foà R. Another step forward in the 20-year history of IGHV mutations in chronic lymphocytic leukemia. Haematologica. 2019 Feb;104(2):219-221.
7. Damle RN, Wasil T, Fais F, Ghiotto F, Valetto A, Allen SL, et al. IgV gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood. 1999 Sep;94(6):1840–1847.
8. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK. Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood. 1999 Sep;94(6):1848–1854
9. Parikh SA, Strati P, Tsang M, West CP, Shanafelt TD. Should IGHV status and FISH testing be performed in all CLL patients at diagnosis? A systematic review and meta-analysis. Blood. 2016 Apr;127(14):1752–1760.
10. Sandoval-Sus JD, Chavez JC, Dalia S, Hussnain Naqvi SM, Talati C, Nodzon L et al. Association between immunoglobulin heavy-chain variable region mutational status and isolated favorable baseline genomic aberrations in chronic lymphocytic leukemia. Leuk Lymphoma. 2018 Jan;59(1):59-68.
11. Zenz T, Eichhorst B, Busch R, Denzel T, Häbe S, Winkler D, et al. TP53 Mutation and Survival in Chronic Lymphocytic Leukemia. J Clin Oncol. 2010 Oct;28:4473–4479.
12. Dohner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000 Dec; 343: 1910–1916.
13. Grever MR, Lucas DM, Dewald GW, Neuberg DS, Reed JC, Kitada S, et al. Comprehensive assessment of genetic and molecular features predicting outcome in patients with chronic lymphocytic leukemia: results from the US Intergroup Phase III Trial E2997. J Clin Oncol. 2007;25(7):799-804;
14. Rassenti LZ, Jain S, Keating MJ, Wierda WG, Grever MR, Byrd JC, et al. Relative value of ZAP-70, CD38, and immunoglobulin mutation status in predicting aggressive disease in chronic lymphocytic leukemia. Blood 2008 Sep; 112(5):1923-1930
15. Crespo M, Bosch F, Villamor N, Bellosillo B, Colomer D, Rozman M, et al. ZAP-70
expression as a surrogate for immunoglobulin-variable-region mutations in chronic
lymphocytic leukemia. N Engl J Med. 2003 May; 348(18):1764-1775.
16. Baliakas P, Hadzidimitriou A, Sutton LA, Rossi D, Minga E, Villamor N, et al. European Research Initiative on CLL (ERIC). Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia. 2015 Feb;29(2):329-36.
17. Stamatopoulos K, Agathangelidis A, Rosenquist R, Ghia P. Antigen receptor stereotypy in chronic lymphocytic leukemia. Leukemia. 2017 Feb;31(2):282-91
18. Baliakas P, Hadzidimitriou A, Sutton LA, Minga E, Agathangelidis A, Nichelatti M, et al. Clinical effect of stereotyped B-cell receptor immunoglobulins in chronic lymphocytic leukaemia: a retrospective multicentre study. The Lancet Haematology. 2014 Nov;1(2):e74-84
19. Lin KI, Tam CS, Keating MJ, Wierda WG, O’Brien S, Lerner S, et al. Relevance of the immunoglobulin VH somatic mutation status in patients with chronic lymphocytic leukemia treated with fludarabine, cyclophosphamide, and rituximab (FCR) or related chemoimmunotherapy regimens. Blood 2009 Apr; 113: 3168–3171.
20. Thompson PA, Tam CS, O'Brien SM, Wierda WG, Stingo F, Plunkett W, et al. Fludarabine, cyclophosphamide, and rituximab treatment achieves long-term disease-free survival in IGHV-mutated chronic lymphocytic leukemia. Blood. 2016 Jan;127(3):303–309.
21. Guo A, Lu P, Galanina N, Nabhan C, Smith SM, Colemanet M et al. Heightened BTK-dependent cell proliferation in unmutated chronic lymphocytic leukemia confers increased sensitivity to ibrutinib. Oncotarget. 2016 Jan;7(4):4598–4610.
22. Brown JR, Hallek MJ, Pagel JM. Chemoimmunotherapy Versus Targeted Treatment in Chronic Lymphocytic Leukemia: When, How Long, How Much, and in Which Combination?. Am Soc Clin Oncol Educ Book. 2016;35:e387-e398.
23. Ghia P, Stamatopoulos K, Belessi C, Moreno C, Stilgenbauer S, Stevenson F, et al. ERIC recommendations on IGHV gene mutational status analysis in chronic lymphocytic leukemia. Leukemia. 2007 Jan;21(1):1–3.
24. Hallek M, Cheson BD, Catovsky D, Caligaris-Cappio F, Dighiero G, Dohner H, et al. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL. Blood. 2018 Jun;131(25):2745-2760.
25. Wierda WG, Byrd JC, Abramson JS, Bilgrami F, Bociek G, Brander D, et al. Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma, Version 4.2020, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2020 Feb;18(2):185-217.
26. Moysiadis T, Baliakas P, Rossi D, Catherwood M, Strefford JC, Delgado J, et al. Different time-dependent changes of risk for evolution in chronic lymphocytic leukemia with mutated or unmutated antigen B cell receptors. Leukemia. 2019 Jul;33:1801–1805
27. Hallek M, Cheson BD, Catovsky D, Caligaris-Cappio F, Dighiero G, Döhner H, 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 Jun;111(12):5446–5456.
28. Lin K, Sherrington PD, Dennis M, Matrai Z, Cawley JC, Pettitt AR. Relationship between p53 dysfunction, CD38 expression, and IgV(H) mutation in chronic lymphocytic leukemia. Blood. 2002 Aug;100(4):1404-9.
29. Kröber A, Seiler T, Benner A, Bullinger L, Brückle E, Lichter P, et al. V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood. 2002 Aug;100(4):1410-6.
30. Jain P, Nogueras Gonzalez GM, Kanagal-Shamanna R, Rozovski U, Sarwari N, Tam C, et al. The absolute percent deviation of IGHV mutation rather than a 98% cut-off predicts survival of chronic lymphocytic leukaemia patients treated with fludarabine, cyclophosphamide and rituximab. Br J Haematol. 2018 Jan; 180: 33–40.
31. Chiorazzi N, Stevenson FK. Celebrating 20 Years of IGHV Mutation Analysis in CLL. Hemasphere. 2020 Jan;4(1):e334.
32. Burger JA, Chiorazzi N. B cell receptor signaling in chronic lymphocytic leukemia. Trends Immunol. 2013 Dec;34(12):592-601.
33. Rozovski U, Keating MJ, Estrov Z. Why Is the Immunoglobulin Heavy Chain Gene Mutation Status a Prognostic Indicator in Chronic Lymphocytic Leukemia?. Acta Haematol. 2018;140(1):51-54.
34. Leroy B, Anderson M, Soussi T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat. 2014 Jun;35(6):672–688.
35. Bieging KT, Mello SS, Attardi LD. Unravelling mechanisms of p53-mediated tumour suppression. Nat Rev Cancer. 2014 May;14(5):359–370.
36. Aitken MJL, Lee HJ, Post SM. Emerging treatment options for patients with p53-pathway-deficient CLL. Ther Adv Hematol. 2019 Dec;10:2040620719891356.
37. Zenz T, Habe S, Denzel T, Mohr J, Winkler D, Buhler A, et al. Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial. Blood 2009 Sep;114:2589–97.
38. Tam CS, O'Brien S, Lerner S, Khouri I, Ferrajoli A, Faderl S, et al. The natural history of fludarabine-refractory chronic lymphocytic leukemia patients who fail alemtuzumab or have bulky lymphadenopathy. Leuk Lymphoma 2007 Oct;48:1931–9.
39. Rossi D, Cerri M, Deambrogi C, Sozzi E, Cresta S, Rasi S, et al. The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of del 17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res. 2009 Feb;15(3):995–1004.
40. Zenz T, Vollmer D, Trbusek M, Smardova J, Benner A, Soussi T, et al. European Research Initiative on CLL (ERIC). TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. Leukemia. 2010 Dec;24(12):2072-9.
41. Bouaoun L, Sonkin D, Ardin M, Hollstein M, Byrnes G, Zavadil J, et al. TP53 Variations in human cancers: new lessons from the IARC TP53 database and genomics data. Hum Mutat 2016 Sep; 37: 865–876.
42. Zenz T, Kröber A, Scherer K, Häbe S, Bühler A, Benner A, et al. Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up. Blood. 2008 Oct;112(8):3322–3329.
43. Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, et al. Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice. Cancer Res. 2017 Mar;77(6):1250–1260.
44. Pospisilova S, Gonzalez D, Malcikova J, Trbusek M, Rossi D, Kater AP, et al. ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia. Leukemia. 2012 Jul;26(7):1458–1461.
45. Landau DA, Tausch E, Taylor-Weiner AN, Stewart C, Reiter JG, Bahlo J, et al. Mutations driving CLL and their evolution in progression and relapse. Nature. 2015 Oct;526(7574):525–530.
46. Ghia P, Ljungström V, Tausch E, Agathangelidis A, Scheffold A, Scarfo L, et al. Whole-exome sequencing revealed no recurrent mutations within the PI3K pathway in relapsed chronic lymphocytic leukemia patients progressing under idelalisib treatment. Blood. 2016 Dec;128(22):1.
47. Pospisilova S, Sutton LA, Malcikova J, Tausch E, Rossi D, Montserrat E, et al. Innovation in the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go? Haematologica. 2016 Mar;101(3):263–265.
48. Rossi D, Khiabanian H, Spina V, Ciardullo C, Bruscaggin A, Famà R, et al. Clinical impact of small TP53 mutated sub-clones in chronic lymphocytic leukemia. Blood. 2014 Apr;123(14):2139–2147.
49. O’Brien S, Jones JA, Coutre SE, Mato AR, Hillmen P, Tam C, et al. Ibrutinib for patients with relapsed or refractory chronic lymphocytic leukaemia with 17p deletion (RESONATE-17): a phase 2, open-label, multicentre study. Lancet Oncol. 2016 Oct;17(10):1409–1418
50. Zelenetz AD, Barrientos JC, Brown JR, Coiffier B, Delgado J, Egyed M, et al. Idelalisib or placebo in combination with bendamustine and rituximab in patients with relapsed or refractory chronic lymphocytic leukaemia: interim results from a phase 3, randomised, double-blind, placebo-controlled trial. Lancet Oncol. 2017 Mar;18(3):297–311.
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