Next-generation personalised medicine for high-risk paediatric cancer patients – The INFORM pilot study

European Journal of Cancer

Volumn 65, Issue , 2016, Pages 91-101

  Worst, Barbara C ^a,b   van Tilburg, Cornelis M ^a,b   Balasubramanian, Gnana Prakash ^a   Fiesel, Petra ^a,b   Witt, Ruth ^a   Freitag, Angelika ^a   Boudalil, Miream ^a,b   Previti, Christopher ^a   Wolf, Stephan ^a   Schmidt, Sabine ^a   Chotewutmontri, Sasithorn ^a   Bewerunge Hudler, Melanie ^a   Schick, Matthias ^a   Schlesner, Matthias ^a   Hutter, Barbara ^a   Taylor, Lenka ^b   Borst, Tobias ^c   Sutter, Christian ^b   Bartram, Claus R ^b   Milde, Till ^a,b   Pfaff, Elke ^a,b   Kulozik, Andreas E ^b   von Stackelberg, Arend ^d   Meisel, Roland ^e   Borkhardt, Arndt ^e   Reinhardt, Dirk ^f   Klusmann, Jan Henning ^g   Fleischhack, Gudrun ^f   Tippelt, Stephan ^f   Dirksen, Uta ^h   Jürgens, Heribert ^h   Kramm, Christof M ⁱ   von Bueren, Andre O ^i,j   Westermann, Frank ^a   Fischer, Matthias ^k,l,m   Burkhardt, Birgit ^h   Wößmann, Wilhelm ⁿ   Nathrath, Michaela ^o,p   Bielack, Stefan S ^q   Frühwald, Michael C ^r   Fulda, Simone ^a,s   Klingebiel, Thomas ^s   Koscielniak, Ewa ^q   Schwab, Matthias ^a,t,u   Tremmel, Roman ^t,u   Driever, Pablo Hernáiz ^d   Schulte, Johannes H ^d,f   Brors, Benedikt ^a   von Deimling, Andreas ^a,b   Lichter, Peter ^a   Eggert, Angelika ^d   Capper, David ^a,b   Pfister, Stefan M ^a,b   Jones, David T W ^a   Witt, Olaf ^a,b   more..

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

^g HANNOVER MEDICAL SCHOOL   (Germany)

^h UNIVERSITY HOSPITAL MÜNSTER   (Germany)

ⁱ UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^j GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^k UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^l UNIVERSITY OF COLOGNE   (Germany)

^m MAX PLANCK INSTITUTE FOR NEUROLOGICAL RESEARCH   (Germany)

ⁿ UNIVERSITY HOSPITAL GIESSEN   (Germany)

^o KLINIKUM KASSEL   (Germany)

^p TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^q OLGAHOSPITAL   (Germany)

^r KLINIKUM AUGSBURG   (Germany)

^s UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^t DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^u UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

Brain; Cancer; Deep sequencing; Molecular targeted therapy; Oncology; Paediatrics; Personalised medicine; Precision medicine; Sarcoma

Indexed keywords

ANTINEOPLASTIC AGENT;

ADOLESCENT; ARTICLE; BIOINFORMATICS; CANCER COMBINATION CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER SUSCEPTIBILITY; CHILD; CHILDHOOD CANCER; DNA SEQUENCE; EPENDYMOMA; FEMALE; FOLLOW UP; GENE FREQUENCY; GERMLINE MUTATION; GLIOMA; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDULLOBLASTOMA; MULTIMODALITY CANCER THERAPY; MULTIPLE MYELOMA; NEUROBLASTOMA; NEXT GENERATION SEQUENCING; OSTEOSARCOMA; PERSONALIZED MEDICINE; PILOT STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; RNA SEQUENCE; SARCOMA; TURNAROUND TIME; ADULT; CLINICAL TRIAL; GENE EXPRESSION PROFILING; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MOLECULAR DIAGNOSIS; MOLECULARLY TARGETED THERAPY; MULTICENTER STUDY; NEOPLASMS; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION PROFILING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR TARGETED THERAPY; NEOPLASMS; PILOT PROJECTS; PRECISION MEDICINE; YOUNG ADULT;

EID: 84979671297     PISSN: 09598049     EISSN: 18790852     Source Type: Journal    
DOI: 10.1016/j.ejca.2016.06.009     Document Type: Article

References (38)

1. [1] Gatta, G., Botta, L., Rossi, S., Aareleid, T., Bielska-Lasota, M., Clavel, J., et al. Childhood cancer survival in Europe 1999–2007: results of EUROCARE-5–a population-based study. Lancet Oncol 15:1 (2014), 35–47.
2. [2] Kempf-Bielack, B., Bielack, S.S., Jurgens, H., Branscheid, D., Berdel, W.E., Exner, G.U., et al. Osteosarcoma relapse after combined modality therapy: an analysis of unselected patients in the Cooperative Osteosarcoma Study Group (COSS). J Clin Oncol 23:3 (2005), 559–568.
3. [3] von Stackelberg, A., Volzke, E., Kuhl, J.S., Seeger, K., Schrauder, A., Escherich, G., et al. Outcome of children and adolescents with relapsed acute lymphoblastic leukaemia and non-response to salvage protocol therapy: a retrospective analysis of the ALL-REZ BFM Study Group. Eur J Cancer 47:1 (2011), 90–97.
4. [4] Creutzig, U., Zimmermann, M., Dworzak, M.N., Gibson, B., Tamminga, R., Abrahamsson, J., et al. The prognostic significance of early treatment response in pediatric relapsed acute myeloid leukemia: results of the international study Relapsed AML 2001/01. Haematologica 99:9 (2014), 1472–1478.
5. [5] Oberlin, O., Rey, A., Lyden, E., Bisogno, G., Stevens, M.C., Meyer, W.H., et al. Prognostic factors in metastatic rhabdomyosarcomas: results of a pooled analysis from United States and European cooperative groups. J Clin Oncol 26:14 (2008), 2384–2389.
6. [6] Ramaswamy, V., Remke, M., Bouffet, E., Faria, C.C., Perreault, S., Cho, Y.J., et al. Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis. Lancet Oncol 14:12 (2013), 1200–1207.
7. [7] Antony, R., Wong, K.E., Patel, M., Olch, A.J., McComb, G., Krieger, M., et al. A retrospective analysis of recurrent intracranial ependymoma. Pediatr Blood Cancer 61:7 (2014), 1195–1201.
8. [8] Stahl, M., Ranft, A., Paulussen, M., Bolling, T., Vieth, V., Bielack, S., et al. Risk of recurrence and survival after relapse in patients with Ewing sarcoma. Pediatr Blood Cancer 57:4 (2011), 549–553.
9. [9] MacDonald, T.J., Aguilera, D., Kramm, C.M., Treatment of high-grade glioma in children and adolescents. Neuro Oncol 13:10 (2011), 1049–1058.
10. [10] London, W.B., Castel, V., Monclair, T., Ambros, P.F., Pearson, A.D., Cohn, S.L., et al. Clinical and biologic features predictive of survival after relapse of neuroblastoma: a report from the International Neuroblastoma Risk Group project. J Clin Oncol 29:24 (2011), 3286–3292.
11. [11] Kobrinsky, N.L., Sposto, R., Shah, N.R., Anderson, J.R., DeLaat, C., Morse, M., et al. Outcomes of treatment of children and adolescents with recurrent non-Hodgkin's lymphoma and Hodgkin's disease with dexamethasone, etoposide, cisplatin, cytarabine, and l-asparaginase, maintenance chemotherapy, and transplantation: Children's Cancer Group Study CCG-5912. J Clin Oncol 19:9 (2001), 2390–2396.
12. [12] Athale, U.H., Duckworth, J., Odame, I., Barr, R., Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol 31:9 (2009), 651–663.
13. [13] Bautista, F., Di Giannatale, A., Dias-Gastellier, N., Fahd, M., Valteau-Couanet, D., Couanet, D., et al. Patients in pediatric phase I and early phase II clinical oncology trials at Gustave Roussy: a 13-year center experience. J Pediatr Hematol Oncol, 37(2), 2015 e102–10.
14. [14] Lawrence, M.S., Stojanov, P., Polak, P., Kryukov, G.V., Cibulskis, K., Sivachenko, A., et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 499:7457 (2013), 214–218.
15. [15] Vogelstein, B., Papadopoulos, N., Velculescu, V.E., Zhou, S., Diaz, L.A. Jr., Kinzler, K.W., Cancer genome landscapes. Science 339:6127 (2013), 1546–1558.
16. [16] Zhang, J., Walsh, M.F., Wu, G., Edmonson, M.N., Gruber, T.A., Easton, J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med 373:24 (2015), 2336–2346.
17. [17] Janeway, K.A., Place, A.E., Kieran, M.W., Harris, M.H., Future of clinical genomics in pediatric oncology. J Clin Oncol 31:15 (2013), 1893–1903.
18. [18] Saletta, F., Wadham, C., Ziegler, D.S., Marshall, G.M., Haber, M., McCowage, G., et al. Molecular profiling of childhood cancer: biomarkers and novel therapies. BBA Clin 1 (2014), 59–77.
19. [19] Glade Bender, J., Verma, A., Schiffman, J.D., Translating genomic discoveries to the clinic in pediatric oncology. Curr Opin Pediatr 27:1 (2015), 34–43.
20. [20] Alioto, T.S., Buchhalter, I., Derdak, S., Hutter, B., Eldridge, M.D., Hovig, E., et al. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun, 6, 2015, 10001.
21. [21] McPherson, A., Hormozdiari, F., Zayed, A., Giuliany, R., Ha, G., Sun, M.G., et al. deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data. PLoS Comput Biol, 7(5), 2011, e1001138.
22. [22] Tothova, Z., Wagner, A.J., Anaplastic lymphoma kinase-directed therapy in inflammatory myofibroblastic tumors. Curr Opin Oncol 24:4 (2012), 409–413.
23. [23] Cin, H., Meyer, C., Herr, R., Janzarik, W.G., Lambert, S., Jones, D.T., et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol 121:6 (2011), 763–774.
24. [24] Jones, D.T., Gronych, J., Lichter, P., Witt, O., Pfister, S.M., MAPK pathway activation in pilocytic astrocytoma. Cell Mol Life Sci 69:11 (2012), 1799–1811.
25. [25] Kim, J., Lee, I.H., Cho, H.J., Park, C.K., Jung, Y.S., Kim, Y., et al. Spatiotemporal evolution of the primary glioblastoma genome. Cancer Cell 28:3 (2015), 318–328.
26. [26] Schramm, A., Koster, J., Assenov, Y., Althoff, K., Peifer, M., Mahlow, E., et al. Mutational dynamics between primary and relapse neuroblastomas. Nat Genet 47:8 (2015), 872–877.
27. [27] Morrissy, A.S., Garzia, L., Shih, D.J., Zuyderduyn, S., Huang, X., Skowron, P., et al. Divergent clonal selection dominates medulloblastoma at recurrence. Nature 529:7586 (2016), 351–357.
28. [28] Mody, R.J., Wu, Y.M., Lonigro, R.J., Cao, X., Roychowdhury, S., Vats, P., et al. Integrative clinical sequencing in the management of refractory or relapsed cancer in youth. JAMA 314:9 (2015), 913–925.
29. [29] Roychowdhury, S., Iyer, M.K., Robinson, D.R., Lonigro, R.J., Wu, Y.M., Cao, X., et al. Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med, 3(111), 2011 111ra121.
30. [30] Tran, B., Brown, A.M., Bedard, P.L., Winquist, E., Goss, G.D., Hotte, S.J., et al. Feasibility of real time next generation sequencing of cancer genes linked to drug response: results from a clinical trial. Int J Cancer 132:7 (2013), 1547–1555.
31. [31] Ferte, C, Massard, C, Ileana, E, Hollebecque, A, Lacroix, L, Ammari, S, et al. Molecular screening for cancer treatment optimization (MOSCATO 01): a prospective molecular triage trial; Interim analysis of 420 patients. Cancer Res, 74(19 Suppl), Oct 1 2014, 10.1158/1538-7445.AM2014-CT240 Meeting Abstract.
32. [32] Tsimberidou, A.M., Wen, S., Hong, D.S., Wheler, J.J., Falchook, G.S., Fu, S., et al. Personalized medicine for patients with advanced cancer in the phase I program at MD anderson: validation and landmark analyses. Clin Cancer Res 20:18 (2014), 4827–4836.
33. [33] Le Tourneau, C., Kamal, M., Tredan, O., Delord, J.P., Campone, M., Goncalves, A., et al. Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial. Target Oncol 7:4 (2012), 253–265.
34. [34] Meyer, U.A., Zanger, U.M., Schwab, M., Omics and drug response. Annu Rev Pharmacol Toxicol 53 (2013), 475–502.
35. [35] Relling, M.V., Evans, W.E., Pharmacogenomics in the clinic. Nature 526:7573 (2015), 343–350.
36. [36] Hehir-Kwa, J.Y., Claustres, M., Hastings, R.J., van Ravenswaaij-Arts, C., Christenhusz, G., Genuardi, M., et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet 23:12 (2015), 1601–1606.
37. [37] Le Tourneau, C., Delord, J.P., Goncalves, A., Gavoille, C., Dubot, C., Isambert, N., et al. Molecularly targeted therapy based on tumour molecular profiling versus conventional therapy for advanced cancer (SHIVA): a multicentre, open-label, proof-of-concept, randomised, controlled phase 2 trial. Lancet Oncol 16:13 (2015), 1324–1334.
38. [38] Hyman, D.M., Puzanov, I., Subbiah, V., Faris, J.E., Chau, I., Blay, J.Y., et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 373:8 (2015), 726–736.