Monitoring multiple myeloma by quantification of recurrent mutations in serum

Haematologica

Volumn 102, Issue 7, 2017, Pages 1266-1272

  Rustad, Even Holth ^a   Coward, Eivind ^a,b   Skytøen, Emilie R ^a   Misund, Kristine ^a   Holien, Toril ^a   Standal, Therese ^a   Børset, Magne ^a   Beisvag, Vidar ^a   Myklebost, Ola ^b,c,d   Meza Zepeda, Leonardo A ^b,d   Dai, Hong Yan ^e   Sundan, Anders ^a   Waage, Anders ^a,b,e  

^a NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^b Norwegian Cancer Genomics Consortium   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; BIOLOGICAL MARKER; CIRCULATING TUMOR DNA; DNA; M PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; UNCLASSIFIED DRUG; CELL FREE NUCLEIC ACID; MULTIPLE MYELOMA M-PROTEINS; PARAPROTEIN; TUMOR MARKER;

ADULT; AGED; ARTICLE; BONE MARROW; CANCER SURVIVAL; CORRELATION ANALYSIS; DISEASE ACTIVITY; DROPLET DIGITAL POLYMERASE CHAIN REACTION; FEMALE; FOLLOW UP; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTIPLE MYELOMA; NEXT GENERATION SEQUENCING; ONCOGENE K RAS; ONCOGENE N RAS; POLYMERASE CHAIN REACTION; QUANTIFICATION OF RECURRENT MUTATION; RECURRENT MUTATION; SERUM; TUMOR MASS; TUMOR VOLUME; WHOLE EXOME SEQUENCING; CANCER STAGING; DISEASE EXACERBATION; DNA MUTATIONAL ANALYSIS; GENETICS; LIQUID BIOPSY; MORTALITY; MUTATION; RETROSPECTIVE STUDY;

AGED; BIOMARKERS; BIOMARKERS, TUMOR; CELL-FREE NUCLEIC ACIDS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; HUMANS; LIQUID BIOPSY; MALE; MIDDLE AGED; MULTIPLE MYELOMA; MUTATION; MYELOMA PROTEINS; NEOPLASM STAGING; RETROSPECTIVE STUDIES; WHOLE EXOME SEQUENCING;

EID: 85021393012     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2016.160564     Document Type: Article

References (38)

1. Palumbo A, Anderson K. Multiple myeloma. N Engl J Med. 2011;364(11):1046-1060.
2. Naymagon L, Abdul-Hay M. Novel agents in the treatment of multiple myeloma: a review about the future. J Hematol Oncol. 2016;9(1):52.
3. Durie BG, Harousseau JL, Miguel JS, et al. International uniform response criteria for multiple myeloma. Leukemia. 2006;20(9): 1467-1473.
4. Rajkumar SV, Dimopoulos MA, Palumbo A, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014;15(12):e538-548.
5. Kyle RA, Gertz MA, Witzig TE, et al. Review of 1027 patients with newly diagnosed multiple myeloma. Mayo Clin Proc. 2003;78(1):21-33.
6. Chawla SS, Kumar SK, Dispenzieri A, et al. Clinical course and prognosis of non-secretory multiple myeloma. Eur J Haematol. 2015;95(1):57-64.
7. Larson D, Kyle RA, Rajkumar SV. Prevalence and monitoring of oligosecretory myeloma. N Engl J Med. 2012;367(6):580-581.
8. Heitzer E, Ulz P, Geigl JB. Circulating tumor DNA as a liquid biopsy for cancer. Clin Chem. 2015;61(1):112-123.
9. Jahr S, Hentze H, Englisch S, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 2001;61(4):1659-1665.
10. Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin. Cell. 2016;164(1-2):57-68.
11. Dawson SJ, Tsui DW, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med. 2013;368(13):1199-1209.
12. Garcia-Murillas I, Schiavon G, Weigelt B, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med. 2015;7(302):302-133.
13. Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med. 2014;20(5):548-554.
14. Tie J, Wang Y, Tomasetti C, et al. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer. Sci Transl Med. 2016;8(346):346-392.
15. Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early-and late-stage human malignancies. Sci Transl Med. 2014;6(224):224-224.
16. Mithraprabhu S, Khong T, Ramachandran M, et al. Circulating tumour DNA analysis demonstrates spatial mutational heterogeneity that coincides with disease relapse in myeloma. Leukemia. 2017 Jan 3. [Epub ahead of print]
17. Lohr JG, Stojanov P, Carter SL, et al. Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy. Cancer Cell. 2014;25(1):91-101.
18. Walker BA, Boyle EM, Wardell CP, et al. Mutational spectrum, copy number changes, and outcome: results of a sequencing study of patients with newly diagnosed myeloma. J Clin Oncol. 2015;33(33):3911-3920.
19. Bolli N, Avet-Loiseau H, Wedge DC, et al. Heterogeneity of genomic evolution and mutational profiles in multiple myeloma. Nat Commun. 2014;5:2997.
20. Kortum KM, Mai EK, Hanafiah NH, et al. Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. Blood. 2016;128(9):1226-1233.
21. Lionetti M, Barbieri M, Todoerti K, et al. Molecular spectrum of BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias: implication for MEK-ERK pathway activation. Oncotarget. 2015;6(27): 24205-24217.
22. Heuck CJ, Jethava Y, Khan R, et al. Inhibiting MEK in MAPK pathway-activated myeloma. Leukemia. 2016;30(4):976-980.
23. Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med. 2015;373(8):726-736.
24. Andrulis M, Lehners N, Capper D, et al. Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov. 2013;3(8): 862-869.
25. Sharman JP, Chmielecki J, Morosini D, et al. Vemurafenib response in 2 patients with posttransplant refractory BRAF V600Emutated multiple myeloma. Clin Lymphoma Myeloma Leuk. 2014;14(5): e161-163.
26. Rustad EH, Dai HY, Hov H, et al. BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis. Blood Cancer J. 2015;5:e299.
27. Huggett JF, Cowen S, Foy CA. Considerations for digital PCR as an accurate molecular diagnostic tool. Clin Chem. 2015;61(1):79-88.
28. Sozzi G, Roz L, Conte D, et al. Effects of prolonged storage of whole plasma or isolated plasma DNA on the results of circulating DNA quantification assays. J Natl Cancer Inst. 2005;97(24):1848-1850.
29. El Messaoudi S, Rolet F, Mouliere F, Thierry AR. Circulating cell free DNA: preanalytical considerations. Clin Chim Acta. 2013;424: 222-230.
30. Roschewski M, Dunleavy K, Pittaluga S, et al. Circulating tumour DNA and CT monitoring in patients with untreated diffuse large B-cell lymphoma: a correlative biomarker study. Lancet Oncol. 2015;16(5):541-549.
31. Diaz LA, Jr., Williams RT, Wu J, et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature. 2012;486(7404):537-540.
32. Weinhold N, Chavan SS, Heuck C, et al. High risk multiple myeloma demonstrates marked spatial genomic heterogeneity between focal lesions and random bone marrow; implications for targeted therapy and treatment resistance. Blood. 2015;126 (23):20.
33. Melchor L, Jones JR, Lenive O, et al. Spatiotemporal analysis of intraclonal heterogeneity in multiple myeloma: unravelling the impact of treatment and the propagating capacity of subclones using whole exome sequencing. Blood. 2015;126 (23):371.
34. Krumbholz M, Hellberg J, Steif B, et al. Genomic EWSR1 fusion sequence as highly sensitive and dynamic plasma tumor marker in Ewing sarcoma. Clin Cancer Res. 2016;22(17):4356-4365.
35. Reinert T, Scholer LV, Thomsen R, et al. Analysis of circulating tumour DNA to monitor disease burden following colorectal cancer surgery. Gut. 2016;65(4):625-634.
36. Schreuer M, Meersseman G, Van Den Herrewegen S, et al. Quantitative assessment of BRAF V600 mutant circulating cellfree tumor DNA as a tool for therapeutic monit oring in metastatic melanoma patients treated with BRAF/MEK inhibitors. J Transl Med. 2016;14:95.
37. Russo M, Siravegna G, Blaszkowsky LS, et al. Tumor heterogeneity and lesion-specific response to targeted therapy in colorectal cancer. Cancer Discov. 2016;6(2):147-153.
38. Murtaza M, Dawson SJ, Tsui DW, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature. 2013;497(7447):108-112.