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Year 2016, Volume: 11 Issue: 2, 0 - 0, 08.12.2016

Abstract

References

  • REFERENCES
  • Yong SM, Melo JV. The impact of gene profiling in chronic myeloid leukaemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 181-190.
  • Chen Y, Li S. Molecular signatures of chronic myeloid leukemia stem cells. Biomark Res 2013; 1: 21. Doi:10.1186/2050-7771-1-21.
  • Rohrbacher M, Hasford J. Epidemiology of chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 295-302.
  • Ranjan A, penninga E, Jelsig AM, et al. Inheritance of the chronic myeloproliferative neoplasms. A systematic review. Clin Genet 2013; 83: 99-107.
  • Soverini S, De Benedittis C, Papayannidis C, et al. Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement. Cancer 2013; Dec 30. Doi:10.1002/cncr.28522.
  • Hernandez-Boluda JC, Cervantes F. Prognostic factors in chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 343-353.
  • Baccarani M, Rosti G, de Vivo A, et al. Italian Cooperative Study Group on Myeloid Leukemia. A randomized study of interferon-alpha and low-dose arabinosyl cytosine in chronic myeloid leukemia. Blood 2002; 99: 1527-1535.
  • Wei Y, Hardling M, Olsson B, et al. Not all imatinib resistance in CML are BCR-ABL kinaz domain mutations. Ann Hematol 2006; 85: 841-847.
  • Lıtzow MR. İmatinib Resistance Obstacles and Oppurtunities. Arch Pathol Lab Med 2006;130: 669-679.
  • Visani G, Isidori A. Resistant chronic myeloid leukemia beyond tyrosine kinase inhibitor therapy: which role for omacetaxine?
  • Kang HY, Hwank JU, Kim SH, et al. Comparasion of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistance to imatinib. Haematologica 2006; 91: 659-662.
  • Gasser RB, Hu M, Chilton NB, et al. Single-strand conformation polymorphism (SSCP) for the analysis of genetic variation. Nature Protocols 2007;1: 3121-3128.
  • Elias MH, Baba AA, Husin A, et al. Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malasian chronic myeloid leukemia patients. Hematol Rep 2012; 4: e23. Doi:10.4081/hr.2012.e23.
  • Hess G, Meyer RG, Schuch B, et al. Sustained remissions and low rate of BCR-ABL resistance mutations with imatinib treatment chronic myelogenous leukemia in patients treated in late chronic phase: A 5 year follow up. Am J Hematol 2008; 83: 178-184.
  • Lehaye T, Reihem B, Berger U, et al. Responce and Resistance in 300 patients with BCL-ABL –Positive Leukemias Treated with Imatinib in Single Center. Amer Cancer Soc 2005; 103: 1659-1669.
  • Muvarak N, nagaria P, Rassool FV. Genomic instability in chronic myeloid leukemia: targets for therapy? Curr Hematol Malig Rep 2012; 7: 94-102.
  • Branford S, Rudzki Z, Walsh S, et al. Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis . Blood 2003; 102: 276-283.
  • Reddy EP, Aggarwal AK. The ins and outs of bcr-abl inhibition. Genes Cancer 2012; 3: 447-454.
  • Branford S, Rudzki Z, Walsh S, et al. High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Blood 2002; 99: 3472-3475.
  • Ouyang Z, DU QF, Liu XL, et al. Detection of ABL kinase domain point mutations in chronic myeloid leukemia patients receiving imatinib treatment. Nan Fang Yi Ke Da Xue Xue Bao 2008; 28: 704-706.
  • Ernst T, Hoffmann J, Erben P, et al. ABL single nucleotide polymorphisms may masquerade as BCR-ABL mutations associated with resistance to tyrosine kinase inhibitors in CML patients. Haematologica. 2008; 42: 869-878.
  • Soverini S, Colarossi S, Gnani A, et al. Contribution of ABL Kinase Domain Mutations to Imatinib Resistance in Different Subsets of Philadelphia-Positive Patients: By the GIMEMA Working Party on Chronic Myeloid Leukemia. Clinical Cancer Res 2006; 12: 7374-7379.
  • Druker BJ, Guilhot F, O’Brien SG, et al. Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia. N Engl J Med 2006; 355: 2408-2417.
  • Rosti G. Five-year follow-up results of imatinib 400 mg in late chronic phase chronic myeloid leukemia (CML) patients. ASCO 2007; 25: 7041.
  • Nicolini FE, Corm S, Lê QH, et al. Mutation status and clinical outcome of 89 imatinib mesylate-resistant chronic myelogenous leukemia patients: a retrospective analysis from the French intergroup of CML (Fi(phi)-LMC GROUP). Leukemia 2006; 20: 1061-1066.
  • Nicolini FE, Hayette S, Corm S, et al. Clinical outcome of 27 imatinib mesylate-resistant chronic myelogenous leukemia patients harboring a T315I BCR-ABL mutation. Haematologica 2007; 92: 1238-1241.
  • Baccarani M, Saglio G, Goldman J, et al. Leukemia Net recommendations from an expert panel on behalf of the European Evolving concepts in the management of chronic myeloid leukemia: Blood 2006; 108: 1809-1820.
  • Ilander M, Hekim C, Mustjoki S. Immunology and Immunotherapy of Chronic Myeloid Leukemia. Curr Hematol Malig Rep 2014 Jan 5 (Epub ahead of print).
  • O’Brien SG, Deininger MW. Imatinib in patients with newly diagnosed chronic phase chronic myeloid leukemia. Semin Hematol 2003; 40: 26-30.

Significance of the T3151, T317L, E255K AND Y253H BCR-ABL gene mutations in Philadelphia positive Chronic Myeloid Leukemia patients

Year 2016, Volume: 11 Issue: 2, 0 - 0, 08.12.2016

Abstract

In this study it has been aimed to scan the most frequently observed  types of mutations in imanitib treated Philadelphia positive (Ph+) Chronic Myelositer Leukemia (CML) patients, namely the T315I, F317L, Y253H, and the P-Ioop phosphate binding region E255K mutations,   in order to demonstrate any significant correlation between the  presence  of  these mutations and the estimations on  the relevant clinical parameters. Fifty four chronic phase (CP) CML patients attending two separate centers between 2000 and 2008 were included in this study, after scanning by the ASO-PCR method, to be positive for T315I, F317L, Y253H and E255K mutations in the BCR-ABL gene. Twenty of the patients were men and 42 were women with a median age of 44.5 (19-78). According to the Sokol classification for diagnosis, 12 cases (22.2%) were in the low risk, 26 (48.1%) were in the middle risk and 16 (29.6%) were in the high risk group. Median time of imatinib usage was 1.8 (0.3-7) years. Response to imatinib treatment was optimal in 24 (%44.4) of the patients and suboptimal in 10 (18.5%) of the patients, while 20 (37%) showed resistance. Expected values in 7 years were found to be 96% for median overall survival (OS) and 80% for progression-free survival (PFS). Scanned mutations were observed in 18 (33.3%) patients and T315I and F317L together were detected in 2 patients. Mutations were detected in 60% (p=0.004) of the imatinib resistant patients and the 7-year PFS in this group was 62%, while it was 90% (p=0.041) in patients without detected mutations. While patients with T3151 mutation were recommended allogeneic stem cell transplantation, patients with F317L mutation were started on nilotinib and dasatinib treatment. To determine the optimal treatment type; resistance should be identified in early stages in CML patients and the rational treatment should be planned according to the determined mutation type.

References

  • REFERENCES
  • Yong SM, Melo JV. The impact of gene profiling in chronic myeloid leukaemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 181-190.
  • Chen Y, Li S. Molecular signatures of chronic myeloid leukemia stem cells. Biomark Res 2013; 1: 21. Doi:10.1186/2050-7771-1-21.
  • Rohrbacher M, Hasford J. Epidemiology of chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 295-302.
  • Ranjan A, penninga E, Jelsig AM, et al. Inheritance of the chronic myeloproliferative neoplasms. A systematic review. Clin Genet 2013; 83: 99-107.
  • Soverini S, De Benedittis C, Papayannidis C, et al. Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement. Cancer 2013; Dec 30. Doi:10.1002/cncr.28522.
  • Hernandez-Boluda JC, Cervantes F. Prognostic factors in chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 343-353.
  • Baccarani M, Rosti G, de Vivo A, et al. Italian Cooperative Study Group on Myeloid Leukemia. A randomized study of interferon-alpha and low-dose arabinosyl cytosine in chronic myeloid leukemia. Blood 2002; 99: 1527-1535.
  • Wei Y, Hardling M, Olsson B, et al. Not all imatinib resistance in CML are BCR-ABL kinaz domain mutations. Ann Hematol 2006; 85: 841-847.
  • Lıtzow MR. İmatinib Resistance Obstacles and Oppurtunities. Arch Pathol Lab Med 2006;130: 669-679.
  • Visani G, Isidori A. Resistant chronic myeloid leukemia beyond tyrosine kinase inhibitor therapy: which role for omacetaxine?
  • Kang HY, Hwank JU, Kim SH, et al. Comparasion of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistance to imatinib. Haematologica 2006; 91: 659-662.
  • Gasser RB, Hu M, Chilton NB, et al. Single-strand conformation polymorphism (SSCP) for the analysis of genetic variation. Nature Protocols 2007;1: 3121-3128.
  • Elias MH, Baba AA, Husin A, et al. Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malasian chronic myeloid leukemia patients. Hematol Rep 2012; 4: e23. Doi:10.4081/hr.2012.e23.
  • Hess G, Meyer RG, Schuch B, et al. Sustained remissions and low rate of BCR-ABL resistance mutations with imatinib treatment chronic myelogenous leukemia in patients treated in late chronic phase: A 5 year follow up. Am J Hematol 2008; 83: 178-184.
  • Lehaye T, Reihem B, Berger U, et al. Responce and Resistance in 300 patients with BCL-ABL –Positive Leukemias Treated with Imatinib in Single Center. Amer Cancer Soc 2005; 103: 1659-1669.
  • Muvarak N, nagaria P, Rassool FV. Genomic instability in chronic myeloid leukemia: targets for therapy? Curr Hematol Malig Rep 2012; 7: 94-102.
  • Branford S, Rudzki Z, Walsh S, et al. Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis . Blood 2003; 102: 276-283.
  • Reddy EP, Aggarwal AK. The ins and outs of bcr-abl inhibition. Genes Cancer 2012; 3: 447-454.
  • Branford S, Rudzki Z, Walsh S, et al. High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Blood 2002; 99: 3472-3475.
  • Ouyang Z, DU QF, Liu XL, et al. Detection of ABL kinase domain point mutations in chronic myeloid leukemia patients receiving imatinib treatment. Nan Fang Yi Ke Da Xue Xue Bao 2008; 28: 704-706.
  • Ernst T, Hoffmann J, Erben P, et al. ABL single nucleotide polymorphisms may masquerade as BCR-ABL mutations associated with resistance to tyrosine kinase inhibitors in CML patients. Haematologica. 2008; 42: 869-878.
  • Soverini S, Colarossi S, Gnani A, et al. Contribution of ABL Kinase Domain Mutations to Imatinib Resistance in Different Subsets of Philadelphia-Positive Patients: By the GIMEMA Working Party on Chronic Myeloid Leukemia. Clinical Cancer Res 2006; 12: 7374-7379.
  • Druker BJ, Guilhot F, O’Brien SG, et al. Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia. N Engl J Med 2006; 355: 2408-2417.
  • Rosti G. Five-year follow-up results of imatinib 400 mg in late chronic phase chronic myeloid leukemia (CML) patients. ASCO 2007; 25: 7041.
  • Nicolini FE, Corm S, Lê QH, et al. Mutation status and clinical outcome of 89 imatinib mesylate-resistant chronic myelogenous leukemia patients: a retrospective analysis from the French intergroup of CML (Fi(phi)-LMC GROUP). Leukemia 2006; 20: 1061-1066.
  • Nicolini FE, Hayette S, Corm S, et al. Clinical outcome of 27 imatinib mesylate-resistant chronic myelogenous leukemia patients harboring a T315I BCR-ABL mutation. Haematologica 2007; 92: 1238-1241.
  • Baccarani M, Saglio G, Goldman J, et al. Leukemia Net recommendations from an expert panel on behalf of the European Evolving concepts in the management of chronic myeloid leukemia: Blood 2006; 108: 1809-1820.
  • Ilander M, Hekim C, Mustjoki S. Immunology and Immunotherapy of Chronic Myeloid Leukemia. Curr Hematol Malig Rep 2014 Jan 5 (Epub ahead of print).
  • O’Brien SG, Deininger MW. Imatinib in patients with newly diagnosed chronic phase chronic myeloid leukemia. Semin Hematol 2003; 40: 26-30.
There are 30 citations in total.

Details

Journal Section Makaleler
Authors

Sacide Pehlivan

Cem Kis This is me

Bulent Eser This is me

Mehmet Yılmaz This is me

Leylagul Kaynar

Sibel Oguzkan Balcı

Mustafa Cetin This is me

Mustafa Pehlivan This is me

Publication Date December 8, 2016
Submission Date April 1, 2015
Published in Issue Year 2016 Volume: 11 Issue: 2

Cite

AMA Pehlivan S, Kis C, Eser B, Yılmaz M, Kaynar L, Oguzkan Balcı S, Cetin M, Pehlivan M. Significance of the T3151, T317L, E255K AND Y253H BCR-ABL gene mutations in Philadelphia positive Chronic Myeloid Leukemia patients. KSU Medical Journal. December 2016;11(2).