Deep sequencing of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia patients with resistance to tyrosine kinase inhibitors

被引：14

作者：

Erbilgin, Yucel ^{[1
]}

Eskazan, Ahmet Emre ^{[2
]}

Ng, Ozden Hatirnaz ^{[1
]}

Salihoglu, Ayse ^{[2
]}

Elverdi, Tugrul ^{[2
]}

Firtina, Sinem ^{[1
]}

Tasar, Orcun ^{[1
]}

Mercan, Sevcan ^{[1
]}

Sisko, Sinem ^{[1
]}

Khodzhaev, Khusan ^{[1
]}

Ongoren, Seniz ^{[2
]}

Ar, Muhlis Cem ^{[2
]}

Baslar, Zafer ^{[2
]}

Soysal, Teoman ^{[2
]}

Sayitoglu, Muge ^{[1
]}

Ozbek, Ugur ^{[1
,3
]}

机构：

[1] Istanbul Univ, Dept Genet, Aziz Sancar Inst Expt Med, Istanbul, Turkey

[2] Istanbul Univ, Cerrahpasa Fac Med, Dept Internal Med, Div Haematol, Istanbul, Turkey

[3] Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Genet, Kayisdagi Cad 32, TR-34752 Istanbul, Turkey

来源：

LEUKEMIA & LYMPHOMA | 2019年 / 60卷 / 01期

关键词：

Chronic myeloid leukemia; next-generation sequencing; drug resistance; tyrosine kinase inhibitor; BCR-ABL MUTATIONS; CHRONIC-PHASE; IMATINIB; RECOMMENDATIONS; EFFICACY; CML; TRANSCRIPTS; FREQUENCY; DIAGNOSIS; ASSAY;

D O I：

10.1080/10428194.2018.1473573

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Tyrosine kinase inhibitor (TKI) therapy is the current treatment of choice for patients with chronic phase chronic myeloid leukemia (CML) leading to rapid and durable hematological as well as molecular responses. However, emergence of resistance to TKIs has been the major obstacle to treatment success on long term. In this regard kinase domain mutations are the most common mechanism of therapy failure. In this study, we analyzed peripheral blood samples from 17 CML patients who had developed resistance to various TKIs by using next-generation sequencing parallel to Sanger sequencing. BCR-ABL1 kinase domain mutations have been found in 59% of the cohort. Our results demonstrate that next-generation sequencing results in a higher mutational detection rate than reported with conventional sequencing methodology. Furthermore, it showed the clonal diversity more accurately.

引用

页码：200 / 207

页数：8

共 41 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Prognostic significance of additional chromosomal abnormalities at the time of diagnosis in patients with chronic myeloid leukemia treated with frontline tyrosine kinase inhibitors [J].

Alhuraiji, Ahmad ;

Kantarjian, Hagop ;

Boddu, Prajwal ;

Ravandi, Farhad ;

Borthakur, Gautam ;

DiNardo, Courtney ;

Daver, Naval ;

Kadia, Tapan ;

Pemmaraju, Naveen ;

Pierce, Sherry ;

Garcia-Manero, Guillermo ;

Wierda, William ;

Verstovsek, Srdan ;

Jabbour, Elias ;

Cortes, Jorge .

AMERICAN JOURNAL OF HEMATOLOGY, 2018, 93 (01) :84-90

[3]

Alikian Mary, 2017, Biomol Detect Quantif, V11, P4, DOI 10.1016/j.bdq.2017.01.001

[4] European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013 [J].

Baccarani, Michele ;

Deininger, Michael W. ;

Rosti, Gianantonio ;

Hochhaus, Andreas ;

Soverini, Simona ;

Apperley, Jane F. ;

Cervantes, Francisco ;

Clark, Richard E. ;

Cortes, Jorge E. ;

Guilhot, Francois ;

Hjorth-Hansen, Henrik ;

Hughes, Timothy P. ;

Kantarjian, Hagop M. ;

Kim, Dong-Wook ;

Larson, Richard A. ;

Lipton, Jeffrey H. ;

Mahon, Francois-Xavier ;

Martinelli, Giovanni ;

Mayer, Jiri ;

Mueller, Martin C. ;

Niederwieser, Dietger ;

Pane, Fabrizio ;

Radich, Jerald P. ;

Rousselot, Philippe ;

Saglio, Giuseppe ;

Saussele, Susanne ;

Schiffer, Charles ;

Silver, Richard ;

Simonsson, Bengt ;

Steegmann, Juan-Luis ;

Goldman, John M. ;

Hehlmann, Ruediger .

BLOOD, 2013, 122 (06) :872-884

[5] Chronic Myeloid Leukemia: An Update of Concepts and Management Recommendations of European LeukemiaNet [J].

Baccarani, Michele ;

Cortes, Jorge ;

Pane, Fabrizio ;

Niederwieser, Dietger ;

Saglio, Giuseppe ;

Apperley, Jane ;

Cervantes, Francisco ;

Deininger, Michael ;

Gratwohl, Alois ;

Guilhot, Francois ;

Hochhaus, Andreas ;

Horowitz, Mary ;

Hughes, Timothy ;

Kantarjian, Hagop ;

Larson, Richard ;

Radich, Jerald ;

Simonsson, Bengt ;

Silver, Richard T. ;

Goldman, John ;

Hehlmann, Rudiger .

JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (35) :6041-6051

[6] Prognostic importance of additional cytogenetic anomalies in chronic myeloid leukemia [J].

Bozkurt, Sureyya ;

Uz, Burak ;

Buyukasik, Yahya ;

Bektas, Ozlen ;

Inanc, Ayten ;

Goker, Hakan ;

Kansu, Emin .

MEDICAL ONCOLOGY, 2013, 30 (01)

[7] Rationale for the recommendations for harmonizing current methodology for detecting BCR-ABL transcripts in patients with chronic myeloid leukaemia [J].

Branford, S. ;

Cross, N. C. P. ;

Hochhaus, A. ;

Radich, J. ;

Saglio, G. ;

Kaeda, J. ;

Goldman, J. ;

Hughes, T. .

LEUKEMIA, 2006, 20 (11) :1925-1930

[8] 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 [J].

Branford, S ;

Rudzki, Z ;

Walsh, S ;

Parkinson, I ;

Grigg, A ;

Szer, J ;

Taylor, K ;

Herrmann, R ;

Seymour, JF ;

Arthur, C ;

Joske, D ;

Lynch, K ;

Hughes, T .

BLOOD, 2003, 102 (01) :276-283

[9] Predicting the Functional Effect of Amino Acid Substitutions and Indels [J].

Choi, Yongwook ;

Sims, Gregory E. ;

Murphy, Sean ;

Miller, Jason R. ;

Chan, Agnes P. .

PLOS ONE, 2012, 7 (10)

[10]

Crisan A M, 2015, J Med Life, V8, P502

← 1 2 3 4 5 →