JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis

References

• Blombery P, Wong SQ, Lade S, Prince HM. Erdheim-Chester disease harboring the BRAF V600E mutation. J Clin Oncol. 2012;30(32):e331–32. doi:10.1200/JCO.2012.43.2260. PMID:23008323.
   PubMed Web of Science ®Google Scholar
• Haroche J, Charlotte F, Arnaud L, von Deimling A, Helias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120(13):2700–703. doi:10.1182/blood-2012-05-430140. PMID:22879539.
   PubMed Web of Science ®Google Scholar
• Xie M, Lu C, Wang J, McLellan MD, Johnson KJ, Wendl MC, McMichael JF, Schmidt HK, Yellapantula V, Miller CA, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med. 2014;20(12):1472–478. doi:10.1038/nm.3733. PMID:25326804.
   PubMed Web of Science ®Google Scholar
• Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, Ebert BL. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9–16. doi:10.1182/blood-2015-03-631747. PMID:25931582.
   PubMed Web of Science ®Google Scholar
• Heuser M, Thol F, Ganser A. Clonal hematopoiesis of indeterminate potential. Dtsch Arztebl Int. 2016;113(18):317–22. PMID:27215596.
   PubMed Web of Science ®Google Scholar
• Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N, Chavez A, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488–498. doi:10.1056/NEJMoa1408617. PMID:25426837.
   PubMed Web of Science ®Google Scholar
• Haroun F, Millado K, Tabbara I. Erdheim-Chester disease: Comprehensive review of molecular profiling and therapeutic advances. Anticancer Res. 2017;37(6):2777–783. PMID:28551613.
   PubMed Web of Science ®Google Scholar
• Janku F, Vibat CR, Kosco K, Holley VR, Cabrilo G, Meric-Bernstam F, Stepanek VM, Lin PP, Leppin L, Hassaine L, et al. BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. Oncotarget. 2014;5(11):3607–610. doi:10.18632/oncotarget.1964. PMID:25003820.
   PubMed Web of Science ®Google Scholar
• Scholer LV, Reinert T, Orntoft MW, Kassentoft CG, Arnadottir SS, Vang S, Nordentoft I, Knudsen M, Lamy P, Andreasen D, et al. Clinical implications of monitoring circulating tumor DNA in patients with colorectal cancer. Clin Cancer Res. 2017;23(18):5437–445. doi:10.1158/1078-0432.CCR-17-0510. PMID:28600478.
   PubMed Web of Science ®Google Scholar
• Tie J, Wang Y, Tomasetti C, Li L, Springer S, Kinde I, Silliman N, Tacey M, Wong HL, Christie M, 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):346ra392. doi:10.1126/scitranslmed.aaf6219.
   Web of Science ®Google Scholar
• Jamieson CH, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M, Jones C, Zehnder JL, Lilleberg SL, Weissman IL. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A. 2006;103(16):6224–229. doi:10.1073/pnas.0601462103. PMID:16603627.
   PubMed Web of Science ®Google Scholar
• Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, Vainchenker W, Bernard OA, Chaffanet M, Vey N, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23(11):2183–186. doi:10.1038/leu.2009.141. PMID:19609284.
   PubMed Web of Science ®Google Scholar
• Gomez-Segui I, Makishima H, Jerez A, Yoshida K, Przychodzen B, Miyano S, Shiraishi Y, Husseinzadeh HD, Guinta K, Clemente M, et al. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia. 2013;27(9):1943–946. doi:10.1038/leu.2013.179. PMID:23765226.
   PubMed Web of Science ®Google Scholar
• Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010;24(6):1128–138. doi:10.1038/leu.2010.69. PMID:20428194.
   PubMed Web of Science ®Google Scholar
• Tefferi A, Finke CM, Lasho TL, Wassie EA, Knudson R, Ketterling RP, Hanson CA, Pardanani A. U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype. Leukemia. 2014;28(2):431–33. doi:10.1038/leu.2013.286. PMID:24097336.
   PubMed Web of Science ®Google Scholar
• McKerrell TPN, Chi J., Collord G., Moreno T., Ponstingl H., Dias J., Gerasimou P., Melanthiou K., Prokopiou C., Antoniades M., et al. JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics. Blood Advances. 2017;1(14):968–71. doi:10.1182/bloodadvances.2017007047. PMID:29296738.
   PubMed Web of Science ®Google Scholar
• Jan M, Snyder TM, Corces-Zimmerman MR, Vyas P, Weissman IL, Quake SR, Majeti R. Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med. 2012;4(149):149ra118. doi:10.1126/scitranslmed.3004315. PMID:22932223.
   PubMed Web of Science ®Google Scholar
• Shlush LI, Zandi S, Mitchell A, Chen WC, Brandwein JM, Gupta V, Kennedy JA, Schimmer AD, Schuh AC, Yee KW, et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature. 2014;506(7488):328–33. doi:10.1038/nature13038. PMID:24522528.
   PubMed Web of Science ®Google Scholar
• Wong TN, Ramsingh G, Young AL, Miller CA, Touma W, Welch JS, Lamprecht TL, Shen D, Hundal J, Fulton RS, et al. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. Nature. 2015;518(7540):552–55. doi:10.1038/nature13968. PMID:25487151.
   PubMed Web of Science ®Google Scholar
• Papo M, Diamond EL, Cohen-Aubart F, Emile JF, Roos-Weil D, Gupta N, Durham BH, Ozkaya N, Dogan A, Ulaner GA, et al. High prevalence of myeloid neoplasms in adults with non-Langerhans cell histiocytosis. Blood. 2017;130(8):1007–013. doi:10.1182/blood-2017-01-761718. PMID:28679734.
   PubMed Web of Science ®Google Scholar
• Genovese G, Kahler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, Chambert K, Mick E, Neale BM, Fromer M, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477–487. doi:10.1056/NEJMoa1409405. PMID:25426838.
   PubMed Web of Science ®Google Scholar
• Jaiswal S, Natarajan P, Silver AJ, Gibson CJ, Bick AG, Shvartz E, McConkey M, Gupta N, Gabriel S, Ardissino D, et al. Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease. N Engl J Med. 2017;377(2):111–21. doi:10.1056/NEJMoa1701719. PMID:28636844.
   PubMed Web of Science ®Google Scholar
• Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405. doi:10.1182/blood-2016-03-643544. PMID:27069254.
   PubMed Web of Science ®Google Scholar
• Tefferi A, Noel P, Hanson CA. Uses and abuses of JAK2 and MPL mutation tests in myeloproliferative neoplasms a paper from the 2010 William Beaumont hospital symposium on molecular pathology. J Mol Diagn. 2011;13(5):461–66. doi:10.1016/j.jmoldx.2011.05.007. PMID:21723416.
   PubMed Web of Science ®Google Scholar
• Husain H, Melnikova VO, Kosco K, Woodward B, More S, Pingle SC, Weihe E, Park BH, Tewari M, Erlander MG, et al. Monitoring daily dynamics of early tumor response to targeted therapy by detecting circulating tumor DNA in urine. Clin Cancer Res. 2017;23(16):4716–723. doi:10.1158/1078-0432.CCR-17-0454.
   PubMed Web of Science ®Google Scholar
• Husain H, Nykin D, Bui N, Quan D, Gomez G, Woodward B, Venkatapathy S, Duttagupta R, Fung E, Lippman SM, et al. Cell-Free DNA from ascites and pleural effusions: Molecular insights into genomic aberrations and disease biology. Mol Cancer Ther. 2017;16(5):948–55. doi:10.1158/1535-7163.MCT-16-0436. PMID:28468865.
   PubMed Web of Science ®Google Scholar
• Janku F, Kurzrock R. Bringing blood-based molecular testing to the clinic. Clin Cancer Res. 2016;22(22):5400–402. doi:10.1158/1078-0432.CCR-16-1769. PMID:27663595.
   PubMed Web of Science ®Google Scholar
• Schwaederle M, Husain H, Fanta PT, Piccioni DE, Kesari S, Schwab RB, Patel SP, Harismendy O, Ikeda M, Parker BA, et al. Use of liquid biopsies in clinical oncology: Pilot experience in 168 Patients. Clin Cancer Res. 2016;22(22):5497–505. doi:10.1158/1078-0432.CCR-16-0318. PMID:27185373.
   PubMed Web of Science ®Google Scholar
• Schwaederle M, Patel SP, Husain H, Ikeda M, Lanman R, Banks KC, Talasaz A, Bazhenova L, Kurzrock R. Utility of genomic assessment of blood-derived circulating tumor DNA (ctDNA) in patients with advanced lung adenocarcinoma. Clin Cancer Res. 2017;23(17):5101–111. doi:10.1158/1078-0432.CCR-16-2497. PMID:28539465.
   PubMed Web of Science ®Google Scholar
• Kato S, Krishnamurthy N, Banks KC, De P, Williams K, Williams C, Leyland-Jones B, Lippman SM, Lanman RB, Kurzrock R. Utility of genomic analysis in circulating tumor DNA from patients with carcinoma of unknown primary. Cancer Res. 2017;77(16):4238–246. doi:10.1158/0008-5472.CAN-17-0628. PMID:28642281.
   PubMed Web of Science ®Google Scholar
• Schwaederle M, Chattopadhyay R, Kato S, Fanta PT, Banks KC, Choi IS, Piccioni DE, Ikeda S, Talasaz A, Lanman RB, et al. Genomic alterations in circulating tumor DNA from diverse cancer patients identified by next-generation sequencing. Cancer Res. 2017;77(19):5419–427. doi:10.1158/0008-5472.CAN-17-0885. PMID:28807936.
   PubMed Web of Science ®Google Scholar
• Oxnard GR, Paweletz CP, Kuang Y, Mach SL, O'Connell A, Messineo MM, Luke JJ, Butaney M, Kirschmeier P, Jackman DM, et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin Cancer Res. 2014;20(6):1698–705. doi:10.1158/1078-0432.CCR-13-2482. PMID:24429876.
   PubMed Web of Science ®Google Scholar
• Govindan R, Ding L, Griffith M, Subramanian J, Dees ND, Kanchi KL, Maher CA, Fulton R, Fulton L, Wallis J, et al. Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell. 2012;150(6):1121–134. doi:10.1016/j.cell.2012.08.024. PMID:22980976.
   PubMed Web of Science ®Google Scholar
• Makishima H, Yoshizato T, Yoshida K, Sekeres MA, Radivoyevitch T, Suzuki H, Przychodzen B, Nagata Y, Meggendorfer M, Sanada M, et al. Dynamics of clonal evolution in myelodysplastic syndromes. Nat Genet. 2017;49(2):204–12. doi:10.1038/ng.3742. PMID:27992414.
   PubMed Web of Science ®Google Scholar
• Zhang BM, Aleshin A, Lin CY, Ford J, Zehnder JL, Suarez CJ. IDH2 mutation in a patient with metastatic colon cancer. N Engl J Med. 2017;376(20):1991–992. doi:10.1056/NEJMc1701072. PMID:28514606.
   PubMed Web of Science ®Google Scholar
• Kato S, Lippman SM, Flaherty KT, Kurzrock R. The conundrum of genetic "drivers" in benign conditions. J Natl Cancer Inst. 2016;108(8). doi:10.1093/jnci/djw036.
   Google Scholar