1,622
Views
52
CrossRef citations to date
0
Altmetric
Original Articles: Research

Digital PCR for quantification of recurrent and potentially actionable somatic mutations in circulating free DNA from patients with diffuse large B-cell lymphoma

, , , , , , , , , , , , , , , , & show all
Pages 2171-2179 | Received 19 Oct 2015, Accepted 03 Jan 2016, Published online: 17 Feb 2016

References

  • Tilly H, Vitolo U, Walewski J, et al. Diffuse large B-cell lymphoma (DLBCL): ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2012;23:vii78–vii82.
  • Ferlay J, Soerjomataram I, Dikshit R, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer J Int Cancer. 2015;136:E359–E386.
  • Friedberg JW. Relapsed/refractory diffuse large B-cell lymphoma. Hematol Am Soc Hematol Educ Program. 2011;2011:498–505.
  • Diaz LA, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol. 2014;32:579–586.
  • Bohers E, Viailly PJ, Dubois S, et al. Somatic mutations of cell-free circulating DNA detected by Next Generation Sequencing reflect the genetic changes in both Germinal Center B-cell like and activated B-cell like diffuse large B-cell lymphoma tumors at the time of diagnosis. Haematologica. 2015;100:e280–4. DOI: 10.3324/haematol.2015.123612.
  • Mancuso P, Calleri A, Antoniotti P, et al. If it is in the marrow, is it also in the blood? An analysis of 1,000 paired samples from patients with B-cell non-Hodgkin lymphoma. BMC Cancer. 2010;10:644.
  • Jung K, Stephan C, Lewandowski M, et al. Increased cell-free DNA in plasma of patients with metastatic spread in prostate cancer. Cancer Lett. 2004;205:173–180.
  • Sozzi G, Conte D, Leon M, et al. Quantification of free circulating DNA as a diagnostic marker in lung cancer. J Clin Oncol Off J Am Soc Clin Oncol. 2003;21:3902–3908.
  • Frattini M, Gallino G, Signoroni S, et al. Quantitative analysis of plasma DNA in colorectal cancer patients: a novel prognostic tool. Ann N Y Acad Sci. 2006;1075:185–190.
  • Leon SA, Shapiro B, Sklaroff DM, et al. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977;37:646–650.
  • Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014;6:224ra24.
  • Goh H-G, Lin M, Fukushima T, et al. Sensitive quantitation of minimal residual disease in chronic myeloid leukemia using nanofluidic digital polymerase chain reaction assay. Leuk Lymphoma. 2011;52:896–904.
  • Hindson CM, Chevillet JR, Briggs HA, et al. Absolute quantification by droplet digital PCR versus analog real-time PCR. Nat Methods. 2013;10:1003–1005.
  • Jardin F, Pujals A, Pelletier L, et al. Whole exome sequencing of refractory aggressive B-cell lymphomas identified recurrent mutations of the exportin-1 gene (XPO1) in primary mediastinal B-cell lymphoma subtype. A LYSA study [abstract]. Hematol Oncol. 2015;33(suppl S1):100–180 [Abstract 048].
  • Mareschal S, Dubois S, Viailly P-J, et al. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma: exome sequencing of refractory DLBCL. Genes Chromosomes Cancer. 2016;55:251–267. DOI: 10.1002/gcc.22328.
  • Dubois S, Mareschal S, Picquenot J-M, et al. Immunohistochemical and genomic profiles of diffuse large B-cell lymphomas: implications for targeted EZH2 inhibitor therapy? Oncotarget. 2015;6:16712–16724.
  • McCabe MT, Ott HM, Ganji G, et al. EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations. Nature. 2012;492:108–112.
  • Knutson SK, Kawano S, Minoshima Y, et al. Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma. Mol Cancer Ther. 2014;13:842–854.
  • Bohers E, Mareschal S, Bouzelfen A, et al. Targetable activating mutations are very frequent in GCB and ABC diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2014;53:144–153.
  • Ngo VN, Young RM, Schmitz R, et al. Oncogenically active MYD88 mutations in human lymphoma. Nature. 2011;470:115–119.
  • Wilson WH, Young RM, Schmitz R, et al. Targeting B cell receptor signaling with ibrutinib in diffuse large B cell lymphoma. Nat Med. 2015;21:922–926. DOI: 10.1038/nm.3884.
  • Hans CP, Weisenburger DD, Greiner TC, et al. Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray. Blood. 2004;103:275–282.
  • Baker M. Digital PCR hits its stride. Nat Methods. 2012;9:541–544.
  • Beaver JA, Jelovac D, Balukrishna S, et al. Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin Cancer Res. 2014;20:2643–2650.
  • Sefrioui D, Perdrix A, Sarafan-Vasseur N, et al. Short report: monitoring ESR1 mutations by circulating tumor DNA in aromatase inhibitor resistant metastatic breast cancer. Int J Cancer. 2015;137:2513–2519 DOI: 10.1002/ijc.29612.
  • Armbruster DA, Pry T. Limit of blank, limit of detection and limit of quantitation. Clin Biochem Rev. 2008;29:S49–S52.
  • Schiavon G, Hrebien S, Garcia-Murillas I, et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer. Sci Transl Med. 2015;7:313ra182.
  • Taly V, Pekin D, Benhaim L, et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clin Chem. 2013;59:1722–1731.
  • Tone AA, McConechy MK, Yang W, et al. Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas. BMC Cancer. 2014;14:982.
  • Laurent-Puig P, Pekin D, Normand C, et al. Clinical relevance of KRAS-mutated subclones detected with picodroplet digital PCR in advanced colorectal cancer treated with anti-EGFR therapy. Clin Cancer Res Off J Am Assoc Cancer Res. 2015;21:1087–1097.
  • Dawson S-J, Seymour JF. Large B-cell lymphoma: is the future written in the blood? Lancet Oncol. 2015;16:481–483.
  • 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;16:541–549.
  • Yamada S, Ishida Y, Matsuno A, et al. Primary diffuse large B-cell lymphomas of central nervous system exhibit remarkably high prevalence of oncogenic MYD88 and CD79B mutations. Leuk Lymphoma. 2015;56:2141–2145. DOI: 10.3109/10428194.2014.979413.
  • Bonzheim I, Giese S, Deuter C, et al. High frequency of MYD88 mutations in vitreoretinal B-cell lymphoma: a valuable tool to improve diagnostic yield of vitreous aspirates. Blood. 2015;126:76–79.
  • Alizadeh AA, Eisen MB, Davis RE, et al. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature. 2000;403:503–511.
  • Compagno M, Lim WK, Grunn A, et al. Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma. Nature. 2009;459:717–721.
  • Davis RE, Ngo VN, Lenz G, et al. Chronic active B-cell-receptor signalling in diffuse large B-cell lymphoma. Nature. 2010;463:88–92.
  • Hing ZA, Mantel R, Beckwith KA, et al. Selinexor is effective in acquired resistance to ibrutinib and synergizes with ibrutinib in chronic lymphocytic leukemia. Blood. 2015;125:3128–3132.
  • Ribrag V, Soria J, Reyderman L, et al. Phase I study of E7438 (EPZ-6438), an enhancer of zeste-homolog 2 (EZH2) inhibitor: dose determination and preliminary activity in non-Hodgkin lymphoma [abstract]. Hematol Oncol. 2015;33(suppl S1):100–180 [Abstract 145].
  • Chaudhary D, Werner L, Improgo R, et al. Effect of MYD88 mutation in CLL on IRAK4 and BTK inhibition in vitro. Blood. 2013;122:4132–4132.
  • Caner V, Sen Turk N, Baris IC, et al. MYD88 expression and L265P mutation in mature B-cell non-Hodgkin lymphomas. Genet Test Mol Biomarkers. 2015;19:372–378.
  • Kurtz DM, Green MR, Bratman SV, et al. Noninvasive monitoring of diffuse large B-cell lymphoma by immunoglobulin high-throughput sequencing. Blood. 2015;125:3679–3687.
  • Leithäuser F, Bäuerle M, Huynh MQ, et al. Isotype-switched immunoglobulin genes with a high load of somatic hypermutation and lack of ongoing mutational activity are prevalent in mediastinal B-cell lymphoma. Blood. 2001;98:2762–2770.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.