Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

被引:1
作者
Chaudhary, Spandan [1 ]
Chaudhary, Pooja [1 ]
Ahmad, Firoz [1 ]
Arora, Neeraj [1 ]
机构
[1] Unipath Specialty Lab Ltd, Ahmadabad, Gujarat, India
关键词
AML; ELN2022; biomarkers; fusions; NGS panels; WORLD-HEALTH-ORGANIZATION; MYELODYSPLASTIC SYNDROMES; EPIGENETIC MODIFIERS; RISK-STRATIFICATION; PROGNOSTIC IMPACT; DNMT3A MUTATIONS; ADULT PATIENTS; CLASSIFICATION; AML; NEOPLASMS;
D O I
10.1097/MPH.0000000000002840
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Acute myeloid leukemia (AML) is a genetically heterogeneous clonal disorder characterized by the accumulation of acquired somatic genetic alterations in hematopoietic progenitor cells, which alter the normal mechanisms of self-renewal, proliferation, and differentiation. Due to significant technological advancements in sequencing technologies in the last 2 decades, classification and prognostic scoring of AML has been refined, and multiple guidelines are now available for the same. The authors have tried to summarize, latest guidelines for AML diagnosis, important markers associated, epigenetics markers, various AML fusions and their importance, etc. Review of literature suggests lack of study or comprehensive information about current NGS panels for AML diagnosis, genes and fusions covered, their technical know-how, etc. To solve this issue, the authors have tried to present detailed review about currently in use next-generation sequencing myeloid panels and their offerings.
引用
收藏
页码:125 / 137
页数:13
相关论文
共 70 条
[51]   ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study by the German-Austrian Acute Myeloid Leukemia Study Group [J].
Paschka, Peter ;
Schlenk, Richard F. ;
Gaidzik, Verena I. ;
Herzig, Julia K. ;
Aulitzky, Teresa ;
Bullinger, Lars ;
Spaeth, Daniela ;
Teleanu, Veronika ;
Kuendgen, Andrea ;
Koehne, Claus-Henning ;
Brossart, Peter ;
Held, Gerhard ;
Horst, Heinz-A. ;
Ringhoffer, Mark ;
Goetze, Katharina ;
Nachbaur, David ;
Kindler, Thomas ;
Heuser, Michael ;
Thol, Felicitas ;
Ganser, Arnold ;
Doehner, Hartmut ;
Doehner, Konstanze .
HAEMATOLOGICA, 2015, 100 (03) :324-330
[52]   Epigenetic regulators and their impact on therapy in acute myeloid leukemia [J].
Pastore, Friederike ;
Levine, Ross L. .
HAEMATOLOGICA, 2016, 101 (03) :269-278
[53]   Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia [J].
Patel, Jay P. ;
Goenen, Mithat ;
Figueroa, Maria E. ;
Fernandez, Hugo ;
Sun, Zhuoxin ;
Racevskis, Janis ;
Van Vlierberghe, Pieter ;
Dolgalev, Igor ;
Thomas, Sabrena ;
Aminova, Olga ;
Huberman, Kety ;
Cheng, Janice ;
Viale, Agnes ;
Socci, Nicholas D. ;
Heguy, Adriana ;
Cherry, Athena ;
Vance, Gail ;
Higgins, Rodney R. ;
Ketterling, Rhett P. ;
Gallagher, Robert E. ;
Litzow, Mark ;
van den Brink, Marcel R. M. ;
Lazarus, Hillard M. ;
Rowe, Jacob M. ;
Luger, Selina ;
Ferrando, Adolfo ;
Paietta, Elisabeth ;
Tallman, Martin S. ;
Melnick, Ari ;
Abdel-Wahab, Omar ;
Levine, Ross L. .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (12) :1079-1089
[54]   Measurable residual disease-guided treatment with azacitidine to prevent haematological relapse in patients with myelodysplastic syndrome and acute myeloid leukaemia (RELAZA2): an open-label, multicentre, phase 2 trial [J].
Platzbecker, Uwe ;
Middeke, Jan Moritz ;
Sockel, Katja ;
Herbst, Regina ;
Wolf, Dominik ;
Baldus, Claudia D. ;
Oelschlagel, Uta ;
Mutherig, Anke ;
Fransecky, Lars ;
Noppeney, Richard ;
Bug, Gesine ;
Goetze, Katharina S. ;
Kraemer, Alwin ;
Bochtler, Tilmann ;
Stelljes, Matthias ;
Groth, Christoph ;
Schubert, Antje ;
Mende, Marika ;
Stoelzel, Friedrich ;
Borkmann, Christin ;
Kubasch, Anne Sophie ;
von Bonin, Malte ;
Serve, Hubert ;
Haenel, Mathias ;
Duehrsen, Ulrich ;
Schetelig, Johannes ;
Roellig, Christoph ;
Kramer, Michael ;
Ehninger, Gerhard ;
Bornhaeuser, Martin ;
Thiede, Christian .
LANCET ONCOLOGY, 2018, 19 (12) :1668-1679
[55]   The Progress of Next Generation Sequencing in the Assessment of Myeloid Malignancies [J].
Puyan, Fulya Oz ;
Alkan, Serhan .
BALKAN MEDICAL JOURNAL, 2019, 36 (02) :78-87
[56]   Molecular testing for acute myeloid leukemia [J].
Qin, Dahui .
CANCER BIOLOGY & MEDICINE, 2022, 19 (01) :4-13
[57]   European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms [J].
Rack, K. A. ;
van den Berg, E. ;
Haferlach, C. ;
Beverloo, H. B. ;
Costa, D. ;
Espinet, B. ;
Foot, N. ;
Jeffries, S. ;
Martin, K. ;
O'Connor, S. ;
Schoumans, J. ;
Talley, P. ;
Telford, N. ;
Stioui, S. ;
Zemanova, Z. ;
Hastings, R. J. .
LEUKEMIA, 2019, 33 (08) :1851-1867
[58]   Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms [J].
Sande, Christopher M. ;
Wu, Rui ;
Yang, Guang ;
Sussman, Robyn T. ;
Bigdeli, Ashkan ;
Rushton, Chase ;
Chitturi, Akshay ;
Patel, Jay ;
Szankasi, Philippe ;
Morrissette, Jennifer J. D. ;
Lim, Megan S. ;
Elenitoba-Johnson, Kojo S. J. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (02) :87-93
[59]   Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group study [J].
Slovak, ML ;
Kopecky, KJ ;
Cassileth, PA ;
Harrington, DH ;
Theil, KS ;
Mohamed, A ;
Paietta, E ;
Willman, CL ;
Head, DR ;
Rowe, JM ;
Forman, SJ ;
Appelbaum, FR .
BLOOD, 2000, 96 (13) :4075-4083
[60]   EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia [J].
Stasik, Sebastian ;
Middeke, Jan M. ;
Kramer, Michael ;
Roellig, Christoph ;
Kraemer, Alwin ;
Scholl, Sebastian ;
Hochhaus, Andreas ;
Crysandt, Martina ;
Bruemmendorf, Tim H. ;
Naumann, Ralph ;
Steffen, Bjorn ;
Kunzmann, Volker ;
Einsele, Hermann ;
Schaich, Markus ;
Burchert, Andreas ;
Neubauer, Andreas ;
Schaefer-Eckart, Kerstin ;
Schliemann, Christoph ;
Krause, Stefan ;
Herbst, Regina ;
Haenel, Mathias ;
Frickhofen, Norbert ;
Noppeney, Richard ;
Kaiser, Ulrich ;
Baldus, Claudia D. ;
Kaufmann, Martin ;
Racil, Zdenek ;
Platzbecker, Uwe ;
Berdel, Wolfgang E. ;
Mayer, Jiri ;
Serve, Hubert ;
Mueller-Tidow, Carsten ;
Ehninger, Gerhard ;
Bornhaeuser, Martin ;
Schetelig, Johannes ;
Thiede, Christian .
HAEMATOLOGICA, 2020, 105 (05) :E228-E231