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NGS in the management of myeloid malignancies
large scale microcosting evaluation was not the aim of this study. It can however already be suspected, from the results of this work, that a proper use of relatively expen- sive NGS assays is largely balanced by an improved and more reasoned therapeutic management of patients.
Disclosures
No conflicts of interest to disclose.
Contributions
PP and LBY conceived the study; VS, PP, BMC and LBY wrote the manuscript; DC, WS, EM, LPD, UV and LBY performed
cytological analyses; GC and TO performed cytogenetic analyses; AM and LBY performed molecular analyses; PP, TS, DV, GT, GA, LBA, DJ, MH, MN, VB, VS, LE, LM, PA, GP, MM, LLR, LCL, MP, LGS and PC prescribed NGS analyses in multidisci- plinary concertation and collected data from their patients.
Acknowledgments
The authors would like to thank Laetitia Aubert, Marie- Christine Boursier, Emilie Brangoulo, Cécile Lagarde, Veronique Chenais and Amandine Sebie for their excellent technical help with molecular analyses. We would also like to thank all the members of the HUGO group involved in this work.
References
1. Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syn- dromes. Blood. 2013;122(22):3616-3627.
2.Patel BJ, Przychodzen B, Thota S, et al. Genomic determinants of chronic myelomonocytic leukemia. Leukemia. 2017;31(12):2815-2823.
3. Grinfeld J, Nangalia J, Baxter EJ, et al. Classification and personalized prognosis in myeloproliferative neoplasms. N Engl J Med. 2018;379(15):1416-1430.
4. Valent P, Orazi A, Steensma DP, et al. Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions. Oncotarget. 2017;8(43):73483-73500.
5.Malcovati L, Gallì A, Travaglino E, et al. Clinical significance of somatic mutation in unexplained blood cytopenia. Blood. 2017;129(25):3371-3378.
6. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-2506.
7. Greenberg PL, Tuechler H, Schanz J, et al. Revised International Prognostic Scoring System for myelodysplastic syndromes. Blood. 2012;120(12):2454-2465.
8. Itzykson R, Kosmider O, Renneville A, et al. Prognostic score including gene muta- tions in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31(19):2428-2436.
9. Passamonti F, Cervantes F, Vannucchi AM, et al. A Dynamic International Prognostic Scoring System (DIPSS) predicts progres- sion to acute myeloid leukemia in primary myelofibrosis. Blood. 2010;116(15):2857- 2858.
10. Guglielmelli P, Lasho TL, Rotunno G, et al. MIPSS70: mutation-enhanced international prognostic score system for transplanta- tion-age patients with primary myelofibro- sis. J Clin Oncol. 2018;36(4):310-318.
11. Bejar R, Steensma DP. Recent develop- ments in myelodysplastic syndromes.
Blood. 2014;124(18):2793-2803.
12. https://www.e cancer.fr/content/down-
load/64146/575855/file/Listes_genes_mini- males_analyse_usage_visee_diagnos- tique_NGS_fevrier_2016.pdf Last accessed February 2, 2020.
13.Li MM, Datto M, Duncavage EJ, et al. Standards and guidelines for the interpreta- tion and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4-23.
14.Valent P, Horny HP, Bennett JM, et al. Definitions and standards in the prognosis and treatment of the myelodysplastic syn- dromes: consensus statements and report from a working conference. Leuk Res. 2007;31(6):727-736.
15. Swerdlow SH, International Agency for Research on Cancer. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Revised 4th edition. Lyon, 2017.
16. Stanley N, Olson TS, Babushok DV. Recent advances in understanding clonal haematopoiesis in aplastic anaemia. Br J Haematol. 2017;177(4):509-525.
17.Such E, Germing U, Malcovati L, et al. Development and validation of a prognos- tic scoring system for patients with chronic myelomonocytic leukemia. Blood. 2013; 121(15):3005-3015.
18. Passamonti F, Giorgino T, Mora B, et al. A clinical-molecular prognostic model to pre- dict survival in patients with post-poly- cythemia vera and post essential thrombo- cythemia myelofibrosis. Leukemia. 2017; 31(12):2726-2731.
19. Malcovati L, Papaemmanuil E, Bowen DT, et al. for the Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative. Clinical significance of SF3B1 mutations in myelodysplastic syn- dromes and myelodysplastic/myeloprolif-
erative neoplasms. Blood. 2011;118(24):
6239-6246.
20. Elena C, Gallì A, Such E, et al. Integrating
clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia. Blood. 2016;128(10):1408-1417.
21. Vannucchi AM, Lasho TL, Guglielmelli P, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27(9):1861- 1869.
22. Kulasekararaj AG, Jiang J, Smith AE, et al. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood. 2014;124(17):2698-2704.
23. Yoshizato T, Dumitriu B, Hosokawa K, et al. Somatic mutations and clonal hematopoiesis in aplastic anemia. N Engl J Med. 2015;373(1):35-47.
24.Garrison LP Jr, Neumann PJ, Erickson P, Marshall D, Mullins CD. Using real-world data for coverage and payment decisions: the ISPOR Real-World Data Task Force report. Value Health. 2007;10(5):326-335.
25. Genovese G, Kähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014; 371(26):2477-2487.
26.Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015; 126(1):9-16.
27. Cargo CA, Rowbotham N, Evans PA, et al. Targeted sequencing identifies patients with preclinical MDS at high risk of disease pro- gression. Blood. 2015;126(21):2362-2365.
28. Malcovati L, Papaemmanuil E, Ambaglio I, et al. Driver somatic mutations identify dis- tinct disease entities within myeloid neo- plasms with myelodysplasia. Blood. 2014;124(9):1513-1521.
29. Nazha A, Narkhede MS, Radivoyevitch T, et al. The Revised International Prognostic Scoring System “Molecular” (IPSS-Rm), a validated and dynamic model in treated patients with myelodysplastic syndromes (MDS). Blood. 2015;126(23):607.
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