Have a personal or library account? Click to login
Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype Cover

Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Open Access
|Aug 2022

References

  1. Fallini B, Brunetti L, Sportoletti P, Martelli M. NPM1-mutated acute myeloid leukemia: From bench to bedside. Blood. 2020; 136: 1707–1721.
  2. Metzeler K, Herold T, Rothenberg-Turley M, Amler S, Sauerland M, Gorlich D, Schneider S, Konstandin N, Dufour A, Braundl K, et al. Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia. Blood. 2016; 128: 686–698.
  3. Hassan N, Said F, Shafik R, Abdellateif M. Dysregulation of CCAAT/enhancer binding protein-alpha (CEBPA) expression in the bone marrow of acute myeloid leukemia patients. Egypt J Med. Hum Genet. 2021; 22.
  4. Thiede C, Steudel C, Mohr B, Schaich M, Schakel U, Platzbecker U, Wermke M, Bornhauser M, Ritter M, Neubauer A, et al. Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: Association with FAB subtypes and identification of subgroups with poor prognosis. Blood. 2002;99: 4326–4335.
  5. Gilliland G, Griffin J. The role of FLT3 in hematopoiesis and leukemia. Blood. 2002;100: 1532–1542.
  6. Papaemmanuil E, Grstung M, Bullinger L, Gaidzik V, Paschka P, Roberts N, Potter N, Heuser M, Thol F, Bolli N, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374: 2209–2221.
  7. Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum F, Buchner T, Dombret H, Ebert B, Fenaux P, Larson R, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129: 424–447.
  8. The Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013; 368: 2059–2074.
  9. Herold T, Rothenberg-Thurley M, Grunwald V, Janke H, Goerlich D, Sauerland M, Konstandin N, Dufour A, Schneider S, Neusser M, et al. Validation and refinement of the revised 2017 European LeukemiaNet genetic risk stratification of acute myeloid leukemia. Leukemia. 2020; 34: 3161–3172.
  10. Dalenc F, Drouet J, Ader I, Delmas C, Rochaix P, Favre G, Cohen-Jonathen E, Toulas C. Increased expression of a COOH-truncated nucleophosmin resulting from alternative splicing is associated with cellular resistance to ionizing radiation in HeLa cells. Int J Cancer. 2002; 100: 662–668.
  11. Ahn J, Liu X, Cheng D, Peng J, Chan P, Wade P, Ye K. Nucleophosmin/B23, a nuclear PI(3,4,5)P(3) receptor, mediates the antiapoptotic actions of NGF by inhibiting CAD. Mol Cell. 2005; 18: 435–445.
  12. Eirin-Lopez JM, Frehlick L, Ausio J. Long-term evolution and functional diversification in the members of the nucleophosmin/nucleoplasmin family of nuclear chaperones. Genetics. 2006; 173: 1835–1850.
  13. Lee S, Park J, Kim S, Park E, Yun Y, Kwon J. A proteomics approach for the identification of nucleophosmin and heterogenous nuclear ribonucleoprotein C1/C2 as chromatin-biding proteins in response to DNA double-strand breaks. Biochem J. 2005; 388: 7–15.
  14. Zatsepina O, Rousselet A, Chan P, Olson M, Jordan E, Bornens M. The nucleolar phosphoprotein B23 redistributes in part to the spindle poles during mitosis. J Cell Sci. 1999; 112: 455–466.
  15. Fallini B, Bolli N, Shan J, Martelli MP, Liso A, Pucciarini A, Bigerna B, Pasqualucci L, Mannucci R, Rosati R, et al. Both carboxy-terminus NES motif and mutated tryptophan(s) are crucial for aberrant nuclear export of nucleophosmin leukemic mutants in NPMc+ AML. Blood. 2006, 107, 4514–4523.
  16. Fallini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with normal karyotype. N Engl J Med. 2005; 352: 254–266.
  17. Rau R, Rodriguez B, Luo M, Jeong M, Rosen A, Rogers J, Campbell C, Daigle S, Deng L, Song Y, et al. DOT1L as a therapeutic target for the treatment of DNMT3A-mutant acute myeloid leukemia. Blood. 2016; 128: 971–981.
  18. Cocciardi S, Dolnik A, Kapp-Schwoerer S, Rucker F, Lux S, Blatte T, Skambraks S, Kronke J, Heidel F, Schnoder T, et al. Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation. Nat Commun. 2019: 10:2031.
  19. Lagunas-Rangel F, Chavez-Valencia V, Gomez-Guijosa M, Cortes-Penagos C. Acute myeloid leukemia - genetic alterations and their clinical prognosis. IJHOSCR. 2017; 4: 328–339.
  20. Gorello P, Cazzaniga G, Alberti F, Dell’Oro M, Gottardi E, Specchia G, Roti G, Rosati R, Martelli M, Diverio D, et al. Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations. Leukemia. 2006; 20: 1103–1108.
  21. Libura M, Pawełczyk M, Florek I, Matiakowska K, Jaźwiec B, Borg K, Solarska I, Zawada M, Czekalska S, Libura J, et al. CEBPA copy number variations in normal karyotype acute myeloid leukemia: possible role of breakpoint-associated microhomology and chromatin status in CEBPA mutagenesis. Blood Cells Mol Dis. 2015; 55: 284–292.
  22. Nakao M, Yokota S, Iwai T, Kaneko H, Kashima K, Sonoda Y, Fujimoto T, Misawa S. Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia. 1996; 10: 1911–1918.
  23. Sallmyr A, Fan J, Datta K, Kim KT, Grosu D, Shapiro P, Small D, Rassool F. Internal tandem duplication of FLT3 (FLT3/ITD) induces increased ROS production, DNA damage, and misrepair: Implications for poor prognosis in AML. Blood. 2008; 111: 3173–3182.
  24. Schnittger S, Bacher U, Haferlach C, Alpermann T, Kern W, Haferlach T. Diversity of the juxtamembrane and TKD1 mutations (exons 13–15) in the FLT3 gene with regards to mutant load, sequence, length, localization, and correlation with biological data. Genes Chromosomes Cancer. 2012; 51: 910–924.
  25. Daver N, Venugopal S, Ravandi F. FLT3 mutated acute myeloid leukemia: 2021 treatment algorithm. Blood Cancer J. 2021; 11: 104.
  26. Pabst T, Mueller B, Zhang P, Radomska H, Narravyla S, Schnittger S, Behre G, Hiddemann W, Tenen W. Dominant-negative mutations of CEBPA, encoding CCAAt/enhancer biding protein-α (C/EBPα), in acute myeloid leukemia. Nat Genet. 2001; 27: 263–270.
  27. Su L, Shi YY, Liu ZY, Gao SJ. Acute myeloid leukemia with CEBPA muttions: Current progress and future directions. Front Oncol. 2022; 12: 806137.
  28. Ley T, Ding L, Walter M, McLellan M, Lamprecht T, Larson D, Kandoth C, Payton J, Baty J, Welch J, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363: 2424–2433.
  29. Godfrey L, Crump N, Thorne R, Lau IJ, Repapi E, Dimou D, Smith A, Harman J, Telenius J, Oudelaar A, et al. DOT1L inhibition reveals a distinct subset of enhancers dependent on H3K79 methylation. Nat Commun. 2019; 10: 2803.
Language: English
Page range: 339 - 344
Submitted on: Nov 4, 2021
Accepted on: Mar 28, 2022
Published on: Aug 9, 2022
Published by: Hirszfeld Institute of Immunology and Experimental Therapy
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2022 Karolina Matiakowska-Bryk, Alicja Bartoszewska-Kubiak, Olga Haus, published by Hirszfeld Institute of Immunology and Experimental Therapy
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.