Next Generation Sequencing of Acute Myeloid Leukemia: Influencing Prognosis

Overview

Journal BMC Genomics

Publisher Biomed Central

Specialty Genetics

Date 2015 Apr 30

PMID 25924101

Citations 20

Authors

Asad Muhammad Ilyas

Sultan Ahmad

Muhammad Faheem

Muhammad Imran Naseer

Taha A Kumosani

Muhammad Hussain Al-Qahtani

Mamdooh Gari

Farid Ahmed

Affiliations

Soon will be listed here.

Abstract

Acute myeloid leukemia (AML) is a clonal disorder of the blood forming cells characterized by accumulation of immature blast cells in the bone marrow and peripheral blood. Being a heterogeneous disease, AML has been the subject of numerous studies that focus on unraveling the clinical, cellular and molecular variations with the aim to better understand and treat the disease. Cytogenetic-risk stratification of AML is well established and commonly used by clinicians in therapeutic management of cases with chromosomal abnormalities. Successive inclusion of novel molecular abnormalities has substantially modified the classification and understanding of AML in the past decade. With the advent of next generation sequencing (NGS) technologies the discovery of novel molecular abnormalities has accelerated. NGS has been successfully used in several studies and has provided an unprecedented overview of molecular aberrations as well as the underlying clonal evolution in AML. The extended spectrum of abnormalities discovered by NGS is currently under extensive validation for their prognostic and therapeutic values. In this review we highlight the recent advances in the understanding of AML in the NGS era.

Citing Articles

A comprehensive review of phytochemical approaches in treatment of acute myeloid leukemia: Associated pathways and molecular mechanisms.

Sajana M, Gopenath T, Kanthesh B Chin Herb Med. 2025; 17(1):41-55.

PMID: 39949810 PMC: 11814269. DOI: 10.1016/j.chmed.2024.11.010.

Prognostic significance of ASXL1 mutations in acute myeloid leukemia: A systematic review and meta-analysis.

Sheikhi M, Rostami M, Ferns G, Ayatollahi H, Siyadat P, Ayatollahi Y Caspian J Intern Med. 2024; 15(2):202-214.

PMID: 38807730 PMC: 11129077. DOI: 10.22088/cjim.15.2.202.

Prognostic value of IDH2R140 and IDH2R172 mutations in patients with acute myeloid leukemia: a systematic review and meta-analysis.

Qin Y, Shen K, Liu T, Ma H BMC Cancer. 2023; 23(1):527.

PMID: 37291515 PMC: 10251563. DOI: 10.1186/s12885-023-11034-7.

Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Gatua M, Navari M, Ongondi M, Onyango N, Kaggia S, Rogena E Front Genet. 2022; 13:843705.

PMID: 35836575 PMC: 9274457. DOI: 10.3389/fgene.2022.843705.

High Expression of RhoF Predicts Worse Overall Survival: A Potential Therapeutic Target for non-M3 Acute Myeloid Leukemia.

Hou Y, Zi J, Ge Z J Cancer. 2021; 12(18):5530-5542.

PMID: 34405015 PMC: 8364661. DOI: 10.7150/jca.52648.

References

Russler-Germain D, Spencer D, Young M, Lamprecht T, Miller C, Fulton R . The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell. 2014; 25(4):442-54. PMC: 4018976. DOI: 10.1016/j.ccr.2014.02.010. View

Ley T, Ding L, Walter M, McLellan M, Lamprecht T, Larson D . DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010; 363(25):2424-33. PMC: 3201818. DOI: 10.1056/NEJMoa1005143. View

Grossmann V, Tiacci E, Holmes A, Kohlmann A, Martelli M, Kern W . Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood. 2011; 118(23):6153-63. DOI: 10.1182/blood-2011-07-365320. View

Rucker F, Schlenk R, Bullinger L, Kayser S, Teleanu V, Kett H . TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. Blood. 2011; 119(9):2114-21. DOI: 10.1182/blood-2011-08-375758. View

Rohle D, Popovici-Muller J, Palaskas N, Turcan S, Grommes C, Campos C . An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. Science. 2013; 340(6132):626-30. PMC: 3985613. DOI: 10.1126/science.1236062. View

Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N . Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009; 145(6):788-800. DOI: 10.1111/j.1365-2141.2009.07697.x. View

Nomdedeu J, Hoyos M, Carricondo M, Esteve J, Bussaglia E, Estivill C . Adverse impact of IDH1 and IDH2 mutations in primary AML: experience of the Spanish CETLAM group. Leuk Res. 2012; 36(8):990-7. DOI: 10.1016/j.leukres.2012.03.019. View

Paschka P, Schlenk R, Gaidzik V, Habdank M, Kronke J, Bullinger L . IDH1 and IDH2 mutations 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. 2010; 28(22):3636-43. DOI: 10.1200/JCO.2010.28.3762. View

McGettigan P . Transcriptomics in the RNA-seq era. Curr Opin Chem Biol. 2013; 17(1):4-11. DOI: 10.1016/j.cbpa.2012.12.008. View

10.

Pratcorona M, Abbas S, Sanders M, Koenders J, Kavelaars F, Erpelinck-Verschueren C . Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica. 2011; 97(3):388-92. PMC: 3291593. DOI: 10.3324/haematol.2011.051532. View

11.

Martelli M, Sportoletti P, Tiacci E, Martelli M, Falini B . Mutational landscape of AML with normal cytogenetics: biological and clinical implications. Blood Rev. 2012; 27(1):13-22. DOI: 10.1016/j.blre.2012.11.001. View

12.

Kronke J, Bullinger L, Teleanu V, Tschurtz F, Gaidzik V, Kuhn M . Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia. Blood. 2013; 122(1):100-8. DOI: 10.1182/blood-2013-01-479188. View

13.

Schnittger S, Eder C, Jeromin S, Alpermann T, Fasan A, Grossmann V . ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia. 2012; 27(1):82-91. DOI: 10.1038/leu.2012.262. View

14.

Welch J, Westervelt P, Ding L, Larson D, Klco J, Kulkarni S . Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA. 2011; 305(15):1577-84. PMC: 3156695. DOI: 10.1001/jama.2011.497. View

15.

Challen G, Sun D, Jeong M, Luo M, Jelinek J, Berg J . Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2011; 44(1):23-31. PMC: 3637952. DOI: 10.1038/ng.1009. View

16.

Shih A, Abdel-Wahab O, Patel J, Levine R . The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012; 12(9):599-612. DOI: 10.1038/nrc3343. View

17.

Wang F, Travins J, DeLaBarre B, Penard-Lacronique V, Schalm S, Hansen E . Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation. Science. 2013; 340(6132):622-6. DOI: 10.1126/science.1234769. View

18.

Deshpande A, Chen L, Fazio M, Sinha A, Bernt K, Banka D . Leukemic transformation by the MLL-AF6 fusion oncogene requires the H3K79 methyltransferase Dot1l. Blood. 2013; 121(13):2533-41. PMC: 3612861. DOI: 10.1182/blood-2012-11-465120. View

19.

Mamanova L, Coffey A, Scott C, Kozarewa I, Turner E, Kumar A . Target-enrichment strategies for next-generation sequencing. Nat Methods. 2010; 7(2):111-8. DOI: 10.1038/nmeth.1419. View

20.

Hou H, Kuo Y, Liu C, Chou W, Lee M, Chen C . DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications. Blood. 2011; 119(2):559-68. DOI: 10.1182/blood-2011-07-369934. View