Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes

Blood

Volumn 129, Issue 12, 2017, Pages 1685-1690

  Yeh, Paul ^a,b   Dickinson, Michael ^a   Ftouni, Sarah ^a   Hunter, Tane ^a,b   Sinha, Devbarna ^a   Wong, Stephen Q ^a   Agarwal, Rishu ^a,b   Vedururu, Ravikiran ^a   Doig, Kenneth ^a,b   Fong, Chun Yew ^a,b   Blombery, Piers ^a   Westerman, David ^a   Dawson, Mark A ^a,b,c   Dawson, Sarah Jane ^a,b,c  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b Department of Oncology ^*  (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AZACITIDINE; CBL PROTEIN; CIRCULATING TUMOR DNA; DNA; ELTROMBOPAG; ISOCITRATE DEHYDROGENASE 2; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG;

ACUTE MYELOID LEUKEMIA; ADULT; AGED; ARTICLE; BONE MARROW; BONE MARROW BIOPSY; BONE MARROW DERIVED MONONUCLEAR CELL; CLINICAL ARTICLE; DNA DETERMINATION; FEMALE; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HEMATOPOIESIS; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; MYELODYSPLASTIC SYNDROME; NEUTROPHIL; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH EXCESS BLASTS; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; TREATMENT DURATION; TREATMENT RESPONSE; TUMOR VOLUME; VERY ELDERLY; BLOOD; BONE MARROW EXAMINATION; CELL CLONE; DRUG MONITORING; GENETICS; KARYOTYPING; MUTATION; MYELODYSPLASTIC SYNDROMES; PATHOLOGY; POLYMERASE CHAIN REACTION; PROCEDURES;

AZACITIDINE; BONE MARROW EXAMINATION; CLONE CELLS; DNA, NEOPLASM; DRUG MONITORING; HUMANS; KARYOTYPING; MUTATION; MYELODYSPLASTIC SYNDROMES; POLYMERASE CHAIN REACTION;

EID: 85016336808     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-09-740308     Document Type: Article

References (26)

1. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079-2088.
2. Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012; 120(12):2454-2465.
3. Della Porta MG, Travaglino E, Boveri E, et al; Rete Ematologica Lombarda (REL) Clinical Network. Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes. Leukemia. 2015;29(1):66-75.
4. Naqvi K, Jabbour E, Bueso-Ramos C, et al. Implications of discrepancy in morphologic diagnosis of myelodysplastic syndrome between referral and tertiary care centers. Blood. 2011; 118(17):4690-4693.
5. Bernasconi P, Klersy C, Boni M, et al. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol. 2007; 137(3):193-205.
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. Kon A, Shih LY, Minamino M, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet. 2013; 45(10):1232-1237.
8. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
9. Papaemmanuil E, Gerstung M, Malcovati L, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616-3627, quiz 3699.
10. Papaemmanuil E, Cazzola M, Boultwood J, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15): 1384-1395.
11. Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood. 2013;122(25):4021-4034.
12. Malcovati L, Karimi M, Papaemmanuil E, et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood. 2015;126(2):233-241.
13. Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014; 28(2):241-247.
14. Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012; 119(15):3578-3584.
15. Malcovati L, Papaemmanuil E, Bowen DT, et al; 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 syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239-6246.
16. Fenaux P, Mufti GJ, Hellstrom-Lindberg E, et al; International Vidaza High-Risk MDS Survival Study Group. Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study. Lancet Oncol. 2009;10(3):223-232.
17. Malcovati L, Hellström-Lindberg E, Bowen D, et al; European Leukemia Net. Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet. Blood. 2013;122(17):2943-2964.
18. Silverman LR, Demakos EP, Peterson BL, et al. Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: a study of the cancer and leukemia group B. J Clin Oncol. 2002;20(10):2429-2440.
19. Lui YY, Chik KW, Chiu RW, Ho CY, Lam CW, Lo YM. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem. 2002; 48(3):421-427.
20. Cheson BD, Greenberg PL, Bennett JM, et al. Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood. 2006; 108(2):419-425.
21. Bejar R, Lord A, Stevenson K, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014;124(17):2705-2712.
22. Traina F, Visconte V, Elson P, et al. Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms. Leukemia. 2014;28(1):78-87.
23. Bejar R, Steensma DP. Recent developments in myelodysplastic syndromes. Blood. 2014; 124(18):2793-2803.
24. Ulz P, Thallinger GG, Auer M, et al. Inferring expressed genes by whole-genome sequencing of plasma DNA. Nat Genet. 2016;48(10): 1273-1278.
25. Navada SC, Steinmann J, Lübbert M, Silverman LR. Clinical development of demethylating agents in hematology. J Clin Invest. 2014;124(1):40-46.
26. Silverman LR, Fenaux P, Mufti GJ, et al. Continued azacitidine therapy beyond time of first response improves quality of response in patients with higher-risk myelodysplastic syndromes. Cancer. 2011;117(12):2697-2702.