Next Generation Sequencing in AML-On the Way to Becoming a New Standard for Treatment Initiation and/or Modulation?

被引:54
作者
Leisch, Michael [1 ,2 ]
Jansko, Bettina [1 ,2 ,3 ]
Zaborsky, Nadja [1 ,2 ,3 ]
Greil, Richard [1 ,2 ,3 ]
Pleyer, Lisa [1 ,2 ,3 ]
机构
[1] SCRI LIMCR, Dept Internal Med Haematol Med Oncol Haemostaseol, Oncol Ctr, A-5020 Salzburg, Austria
[2] Paracelsus Med Univ, A-5020 Salzburg, Austria
[3] Canc Cluster Salzburg, A-5020 Salzburg, Austria
关键词
AML; acute myeloid leukemia; next generation sequencing; NGS; targeted therapy; minimal residual disease; ACUTE MYELOID-LEUKEMIA; MINIMAL RESIDUAL DISEASE; INTERNAL TANDEM DUPLICATION; COOPERATIVE-ONCOLOGY-GROUP; ACUTE MYELOGENOUS LEUKEMIA; TYROSINE KINASE INHIBITOR; CLONAL HEMATOPOIESIS; TET2; MUTATIONS; MYELODYSPLASTIC SYNDROMES; OLDER PATIENTS;
D O I
10.3390/cancers11020252
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Acute myeloid leukemia (AML) is a clonal disease caused by genetic abberations occurring predominantly in the elderly. Next generation sequencing (NGS) analysis has led to a deeper genetic understanding of the pathogenesis and the role of recently discovered genetic precursor lesions (clonal hematopoiesis of indeterminate/oncogenic potential (CHIP/CHOP)) in the evolution of AML. These advances are reflected by the inclusion of certain mutations in the updated World Health Organization (WHO) 2016 classification and current treatment guidelines by the European Leukemia Net (ELN) and National Comprehensive Cancer Network (NCCN) and results of mutational testing are already influencing the choice and timing of (targeted) treatment. Genetic profiling and stratification of patients into molecularly defined subgroups are expected to gain ever more weight in daily clinical practice. Our aim is to provide a concise summary of current evidence regarding the relevance of NGS for the diagnosis, risk stratification, treatment planning and response assessment in AML, including minimal residual disease (MRD) guided approaches. We also summarize recently approved drugs targeting genetically defined patient populations with risk adapted- and individualized treatment strategies.
引用
收藏
页数:32
相关论文
共 144 条
[1]   The Bcl-2 apoptotic switch in cancer development and therapy [J].
Adams, J. M. ;
Cory, S. .
ONCOGENE, 2007, 26 (09) :1324-1337
[2]   The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [J].
Arber, Daniel A. ;
Orazi, Attilio ;
Hasserjian, Robert ;
Thiele, Jurgen ;
Borowitz, Michael J. ;
Le Beau, Michelle M. ;
Bloomfield, Clara D. ;
Cazzola, Mario ;
Vardiman, James W. .
BLOOD, 2016, 127 (20) :2391-2405
[3]   Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms [J].
Au, Chun Hang ;
Wa, Anna ;
Ho, Dona N. ;
Chan, Tsun Leung ;
Ma, Edmond S. K. .
DIAGNOSTIC PATHOLOGY, 2016, 11
[4]   Postinduction Minimal Residual Disease Predicts Outcome and Benefit From Allogeneic Stem Cell Transplantation in Acute Myeloid Leukemia With NPM1 Mutation: A Study by the Acute Leukemia French Association Group [J].
Balsat, Marie ;
Renneville, Aline ;
Thomas, Xavier ;
de Botton, Stephane ;
Caillot, Denis ;
Marceau, Alice ;
Lemasle, Emilie ;
Marolleau, Jean-Pierre ;
Nibourel, Olivier ;
Berthon, Celine ;
Raffoux, Emmanuel ;
Pigneux, Arnaud ;
Rodriguez, Celine ;
Vey, Norbert ;
Cayuela, Jean-Michel ;
Hayette, Sandrine ;
Braun, Thorsten ;
Coude, Marie Magdeleine ;
Terre, Christine ;
Celli-Lebras, Karine ;
Dombret, Herve ;
Preudhomme, Claude ;
Boissel, Nicolas .
JOURNAL OF CLINICAL ONCOLOGY, 2017, 35 (02) :185-+
[5]   TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients [J].
Bejar, Rafael ;
Lord, Allegra ;
Stevenson, Kristen ;
Bar-Natan, Michal ;
Perez-Ladaga, Albert ;
Zaneveld, Jacques ;
Wang, Hui ;
Caughey, Bennett ;
Stojanov, Petar ;
Getz, Gad ;
Garcia-Manero, Guillermo ;
Kantarjian, Hagop ;
Chen, Rui ;
Stone, Richard M. ;
Neuberg, Donna ;
Steensma, David P. ;
Ebert, Benjamin L. .
BLOOD, 2014, 124 (17) :2705-2712
[6]  
Bloomfield CD, 1998, CANCER RES, V58, P4173
[7]   Time to repeal and replace response criteria for acute myeloid leukemia? [J].
Bloomfield, Clara Derber ;
Estey, Elihu ;
Pleyer, Lisa ;
Schuh, Andre C. ;
Stein, Eytan M. ;
Tallman, Martin S. ;
Wei, Andrew .
BLOOD REVIEWS, 2018, 32 (05) :416-425
[8]   Phase I study of sorafenib in patients with refractory or relapsed acute leukemias [J].
Borthakur, Gautam ;
Kantarjian, Hagop ;
Ravandi, Farhad ;
Zhang, Weiguo ;
Konopleva, Marina ;
Wright, John J. ;
Faderl, Stefan ;
Verstovsek, Srdan ;
Mathews, Sheela ;
Andreeff, Michael ;
Cortes, Jorge E. .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (01) :62-68
[9]   Molecular predictors of response to decitabine in advanced chronic myelomonocytic leukemia: a phase 2 trial [J].
Braun, Thorsten ;
Itzykson, Raphael ;
Renneville, Aline ;
de Renzis, Benoit ;
Dreyfus, Francois ;
Laribi, Kamel ;
Bouabdallah, Krimo ;
Vey, Norbert ;
Toma, Andrea ;
Recher, Christian ;
Royer, Bruno ;
Joly, Bertrand ;
Vekhoff, Anne ;
Lafon, Ingrid ;
Sanhes, Laurence ;
Meurice, Guillaume ;
Orear, Cedric ;
Preudhomme, Claude ;
Gardin, Claude ;
Ades, Lionel ;
Fontenay, Michaela ;
Fenaux, Pierre ;
Droin, Nathalie ;
Solary, Eric .
BLOOD, 2011, 118 (14) :3824-3831
[10]  
Burchert A., 2018, P ASH ANN M WASH DC