급성골수성백혈병의 차세대 염기서열 분석을 통한 분자유전학적 위험도 분류
Molecular Risk Stratification using Next-generation Sequencing in Acute Myeloid Leukemia
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초록
Chromosomal abnormalities are an important prognostic factor in cases of acute myeloid leukemia (AML). Molecular mutations have been reported to contribute to the pathogenesis and prognosis of AML. Next-generation sequencing (NGS) has revolutionized the speed and cost of genomic sequencing and enables the parallel analysis of many genes for molecular risk stratification. The molecular mutations currently included in risk stratification at AML diagnosis are c-kit, FLT3-ITD, NPM1, CEBPA (biallelic), RUNX1, ASLX1, and TP53. The importance of screening for mutations has been further emphasized by introducing novel therapeutic targets for molecular mutations, such as FLT3-TKD, IDH1, and IDH2. Molecular mutations are also used to evaluate measurable residual disease during treatment and to select the intensity of the treatment during consolidation and follow-up. Pretreatment leukemic marrow and blood should be stored at a biobank to perform NGS analysis in cases of AML at diagnosis. Samples from various time points during and after treatment should be obtained and stored under appropriate conditions.
Abstract
Chromosomal abnormalities are an important prognostic factor in cases of acute myeloid leukemia (AML). Molecular mutations have been reported to contribute to the pathogenesis and prognosis of AML. Next-generation sequencing (NGS) has revolutionized the speed and cost of genomic sequencing and enables the parallel analysis of many genes for molecular risk stratification. The molecular mutations currently included in risk stratification at AML diagnosis are c-kit, FLT3-ITD, NPM1, CEBPA (biallelic), RUNX1, ASLX1, and TP53. The importance of screening for mutations has been further emphasized by introducing novel therapeutic targets for molecular mutations, such as FLT3-TKD, IDH1, and IDH2. Molecular mutations are also used to evaluate measurable residual disease during treatment and to select the intensity of the treatment during consolidation and follow-up. Pretreatment leukemic marrow and blood should be stored at a biobank to perform NGS analysis in cases of AML at diagnosis. Samples from various time points during and after treatment should be obtained and stored under appropriate conditions.
참고문헌 (49)
- Eun-Hye Park, "Nationwide statistical analysis of myeloid malignancies in Korea: incidence and survival rate from 1999 to 2012", Blood Research, 50(4), pp.204~217 (2015), 대한혈액학회
- Pollyea DA, "NCCN guidelines insights:acute myeloid leukemia, version 2.2021", J Natl Compr Canc Netw, 19, pp.16~27 (2021)
- Döhner H, "Diagnosis and management of AML in adults : 2017 ELN recommendations from an international expert panel", Blood, 129, pp.424~447 (2017)
- 김규표, "진료현장에서 정밀의료의 적용", 대한내과학회지, 95(6), pp.382~386 (2020), 대한내과학회[DOI]
- 박실비아, "New agents in acute myeloid leukemia (AML)", Blood Research, 55, pp.14~18 (2020), 대한혈액학회[DOI]
- Ahn JS, "Assessment of a new genomic classification system in acute myeloid leukemia with a normal karyotype", Oncotarget, 9, pp.4961~4968 (2017)
- Döhner K, "Mutant nucleophosmin(NPM1)predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics : interaction with other gene mutations", Blood, 106, pp.3740~3746 (2005)
- Schnittger S, "Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype", Blood, 106, pp.3733~3739 (2005)
- Schlenk RF, "Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia", N Engl J Med, 358, pp.1909~1918 (2008)
- Verhaak RG, "Mutations in nucleophosmin(NPM1)in acute myeloid leukemia(AML) : association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance", Blood, 106, pp.3747~3754 (2005)
- Fröhling S, "Prognostic significance of activating FLT3 mutations in younger adults(16 to 60 years)with acute myeloid leukemia and normal cytogenetics : a study of the AML Study Group Ulm", Blood, 100, pp.4372~4380 (2002)
- Patel JP, "Prognostic relevance of integrated genetic profiling in acute myeloid leukemia", N Engl J Med, 366, pp.1079~1089 (2012)
- Gale RE, "The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia", Blood, 111, pp.2776~2784 (2008)
- Pratcorona M, "Favorable outcome of patients with acute myeloid leukemia harboring a low-allelic burden FLT3-ITD mutation and concomitant NPM1 mutation : relevance to post-remission therapy", Blood, 121, pp.2734~2738 (2013)
- Schlenk RF, "Differential impact of allelic ratio and insertion site in FLT3-ITD-positive AML with respect to allogeneic transplantation", Blood, 124, pp.3441~3449 (2014)
- Mead AJ, "FLT3 tyrosine kinase domain mutations are biologically distinct from and have a significantly more favorable prognosis than FLT3 internal tandem duplications in patients with acute myeloid leukemia", Blood, 110, pp.1262~1270 (2007)
- Bacher U, "Prognostic relevance of FLT3-TKD mutations in AML : the combination matters--an analysis of 3082 patients", Blood, 111, pp.2527~2537 (2008)
- Stone RM, "Midostaurin plus chemotherapy for acute myeloid leukemia with a FLT3mutation", N Engl J Med, 377, pp.454~464 (2017)
- Perl AE, "Gilteritinib or chemotherapy for relapsed or refractory FLT3-mutated AML", N Engl J Med, 381, pp.1728~1740 (2019)
- Ahn JS, "Normal karyotype acute myeloid leukemia patients with CEBPA double mutation have a favorable prognosis but no survival benefit from allogeneic stem cell transplant", Ann Hematol, 95, pp.301~310 (2016)
- Grimwade D, "The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties", Blood, 92, pp.2322~2333 (1998)
- Slovak ML, "Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia : a Southwest Oncology Group", Eastern Cooperative Oncology Group Study, 2000, pp.96, 4075~4083
- Cairoli R, "Prognostic impact of c-KIT mutations in core binding factor leukemias : an Italian retrospective study", Blood, 107, pp.3463~3468 (2006)
- Sang Hyuk Park, "Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population", Annals of Laboratory Medicine, 35(3), pp.288~297 (2015), 대한진단검사의학회
- Boissel N, "Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia(CBF-AML)", Leukemia, 20, pp.965~970 (2006)
- Chen W, "Prognostic significance of KIT mutations in core-binding factor acute myeloid leukemia:a systematic review and meta-analysis", PLoS One, 11, pp.e0146614~ (2016)
- Lindsley RC, "Acute myeloid leukemia ontogeny is defined by distinct somatic mutations", Blood, 125, pp.1367~1376 (2015)
- Gaidzik VI, "RUNX1 mutations in acute myeloid leukemia : results from a comprehensive genetic and clinical analysis from the AML study group", J Clin Oncol, 29, pp.1364~1372 (2011)
- Gaidzik VI, "RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features", Leukemia, 30, pp.2160~2168 (2016)
- Fisher CL, "Characterization of Asxl1, a murine homolog of additional sex combs, and analysis of the Asx-like gene family", Gene, 369, pp.109~118 (2006)
- Metzeler KH, "ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN favorable genetic category", Blood, 118, pp.6920~6929 (2011)
- Papaemmanuil E, "Genomic classification and prognosis in acute myeloid leukemia", N Engl J Med, 374, pp.2209~2221 (2016)
- Rücker FG, "TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome", Blood, 119, pp.2114~2121 (2012)
- Metzeler KH, "Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia", Blood, 128, pp.686~698 (2016)
- Stengel A, "The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL : an analysis of 3307 cases", Leukemia, 31, pp.705~711 (2017)
- Ley TJ, "DNMT3A mutations in acute myeloid leukemia", N Engl J Med, 363, pp.2424~2433 (2010)
- Thol F, "Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia", J Clin Oncol, 29, pp.2889~2896 (2011)
- Marcucci G, "Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemia", J Clin Oncol, 30, pp.742~750 (2012)
- Abbas S, "Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia : prevalence and prognostic value", Blood, 116, pp.2122~2126 (2010)
- Chotirat S, "Molecular alterations of isocitrate dehydrogenase 1 and 2(IDH1 and IDH2)metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients", J Hematol Oncol, 5, pp.5~ (2012)
- Paschka P, "IDH1 and IDH2mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication", J Clin Oncol, 28, pp.3636~3643 (2010)
- Stein EM, "Enasidenib in mutant IDH2 relapsed or refractory acute myeloid leukemia", Blood, 130, pp.722~731 (2017)
- DiNardo CD, "Durable remissions with ivosidenib in IDH1-mutated relapsed or refractory AML", N Engl J Med, 378, pp.2386~2398 (2018)
- Roboz GJ, "Ivosidenib (AG-120) induced durable remissions and transfusion independence in patients with IDH1-mutant untreated AML:results from a phase 1 dose escalation and expansion study", Blood, 132(Suppl 1), pp.561~ (2018)
- Stein EM, "Enasidenib is highly active in previously untreated IDH2 mutant AML: early results from the beat AML master Trial", Blood, 132(Suppl 1), pp.287~ (2018)
- Ahn JS, "Allogeneic transplant can abrogate the risk of relapse in the patients of first remission acute myeloid leukemia with detectable measurable residual disease by next-generation sequencing", Bone Marrow Transplant, 56, pp.1159~1170 (2021)
- Hourigan CS, "Impact of conditioning intensity of allogeneic transplantation for acute myeloid leukemia with genomic evidence of residual disease", J Clin Oncol, 38, pp.1273~1283 (2020)
- Kim T, "Next-generation sequencing-based posttransplant monitoring of acute myeloid leukemia identifies patients at high risk of relapse", Blood, 132, pp.1604~1613 (2018)
- Thol F, "Measurable residual disease monitoring by NGS before allogeneic hematopoietic cell transplantation in AML", Blood, 132, pp.1703~1713 (2018)
