Developing therapies for rare tumors: opportunities, challenges and progress

Bibliography

• Greenlee RT, Goodman MT, Lynch CF, et al. The occurrence of rare cancers in U.S. adults, 1995-2004. Public Health Rep. 2010;125(1):28–43.
   PubMed Web of Science ®Google Scholar
• Keat N, Law K, McConnell A, et al. International Rare Cancers Initiative (IRCI). Ecancermedicalscience. 2013;7(ed20). doi:10.3332/ecancer.2013.ed20.
   PubMedGoogle Scholar
• Rodriguez-Galindo C, Krailo M, Frazier L, et al. Children’s Oncology Group’s 2013 Blueprint for Research: Rare Tumors. Pediatr Blood Cancer. 2013;60(6):1016–1021.
   PubMed Web of Science ®Google Scholar
• Keppel K. Ten largest racial and ethnic health disparities in the United States based on Healthy People 2010 objectives. Am J Epidemiol. 2007;166:97–103.
   PubMed Web of Science ®Google Scholar
• Howlader N, Noone AM, Krapcho M, et al. (eds). SEER cancer statistics review, 1975–2012 [Internet]. Bethesda, MD: National Cancer Institute; 2015. [cited 2015 Sept 21]. http://seer.cancer.gov/csr/1975_2012/, based on November 2014 SEER data submission, posted to the SEER web site, April 2015.
   Google Scholar
• Qian H, Gao F, Wang H, et al. The efficacy and safety of crizotinib in the treatment of anaplastic lymphoma kinase-positive non-small cell lung cancer: a meta-analysis of clinical trials. BMC Cancer. 2014;14:683.
   PubMed Web of Science ®Google Scholar
• Waguespack SG, Rich TA, Perrier N, et al. Management of medullary thyroid carcinoma and MEN2 syndromes in childhood. Nat Rev Endocrinol. 2011;7(10):596–607.
   PubMed Web of Science ®Google Scholar
• French CA. The importance of diagnosing NUT midline carcinoma. Head Neck Pathol. 2013;7(1):11–16.
   PubMedGoogle Scholar
• French CA. Demystified molecular pathology of NUT midline carcinomas. J Clin Pathol. 2010;63(6):492–496.
   PubMed Web of Science ®Google Scholar
• Reaman GH. Successful integration of cooperative groups: the origin of the Children’s Oncology Group. Am Soc Clin Oncol Educ Book. 2012: 149–151. doi:10.14694/EdBook_AM.2012.32.149.
   PubMedGoogle Scholar
• Smith MA, Seibel NL, Altekruse SF, et al. Outcomes for children and adolescents with cancer: challenges for the twenty-first century. J Clin Oncol. 2010;28(15):2625–2634.
   PubMed Web of Science ®Google Scholar
• Pappo AS, Krailo M, Chen Z, et al. Infrequent tumor initiative of the Children’s Oncology Group: initial lessons learned and their impact on future plans. J Clin Oncol. 2010;28(33):5011–5016.
   PubMed Web of Science ®Google Scholar
• Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009;325(5943):965.
   PubMed Web of Science ®Google Scholar
• Stewart D. DICER1-related pleuropulmonary blastoma cancer predisposition syndrome: a natural history study [Internet]. 2015. [cited 2015 Sep 17]. Available from: https://clinicaltrials.gov/ct2/show/NCT01247597?term=dicer&rank=1.
   Google Scholar
• Vilas-Boas I. The drug approval process in the US, Europe and Japan. J Manages Care Pharm. 1997;3:459–465.
   Google Scholar
• Alqahtani SS-VE, Rodriguez-Monguio R, Eguale T. Priority review drugs approved by the FDA and the EMA: time for international regulatory harmonization of pharmaceuticals. Pharmacoepidemiol Drug Saf. 2015;24(7):709–715.
   PubMed Web of Science ®Google Scholar
• Ding L, Getz G, Wheeler DA, et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008;455(7216):1069–1075.
   PubMed Web of Science ®Google Scholar
• Forbes SA, Beare D, Gunasekaran P, et al. COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43(D1):D805–D811.
   PubMed Web of Science ®Google Scholar
• Hirbe AC, Dahiya S, Miller CA, et al. Whole exome sequencing reveals the order of genetic changes during malignant transformation and metastasis in a single patient with nf1-plexiform neurofibroma. Clin Cancer Res. 2015;21(18):4201–4211. doi:10.1158/1078-0432.CCR-14-3049. Epub 2015 Apr 29.
   PubMed Web of Science ®Google Scholar
• Eleveld TF, Oldridge DA, Bernard V, et al. Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. Nat Genet. 2015;47(8):864–871.
   PubMed Web of Science ®Google Scholar
• Janeway K, DuBois SG, Glade Bender JL, et al. Multicenter study assessing tumor molecular profiles in advanced pediatric solid tumors. J Clin Oncol. 2014;32(5s):abstr 10011.
   Google Scholar
• Parsons D, Roy A, Monzon FA, et al. What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors. J Clin Oncol. 2014;32(5s):abst 10012.
   Google Scholar
• Meric-Bernstam F, Brusco L, Shaw K, et al. Feasibility of large-scale genomic testing to facilitate enrollment onto genomically matched clinical trials. J Clin Oncol. 2015;33(25):2753–2762.
   PubMed Web of Science ®Google Scholar
• Vidwans SJ, Turski ML, Janku F, et al. A framework for genomic biomarker actionability and its use in clinical decision making. Oncoscience. 2014;1(10):614–623.
   PubMedGoogle Scholar
• Tap WD, Wainberg ZA, Anthony SP, et al. Structure-guided blockade of csf1r kinase in tenosynovial giant-cell tumor. N Engl J Med. 2015;373(5):428–437.
   PubMed Web of Science ®Google Scholar
• Hyman DM, Blay JY, Chau I, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. New England J Med. 2015;373(8):726–736.
   PubMed Web of Science ®Google Scholar
• Iyer G, Hanrahan AJ, Milowsky MI, et al. Genome sequencing identifies a basis for everolimus sensitivity. Science. 2012;338(6104):221.
   PubMed Web of Science ®Google Scholar
• Jang S, Atkins MB. Which drug, and when, for patients with BRAF-mutant melanoma? Lancet Oncol. 2013;14(2):e60–e69.
   PubMed Web of Science ®Google Scholar
• Arnedos M, Vielh P, Soria JC, et al. The genetic complexity of common cancers and the promise of personalized medicine: is there any hope? J Pathol. 2014;232(2):274–282.
   PubMed Web of Science ®Google Scholar
• Cancer Therapy Evaluation Program. Pediatric preclinical testing consortium [Internet]. 2015 [ cited 2015 Oct 31]. Available from: http://ctep.cancer.gov/MajorInitiatives/Pediatric_Preclinical_Testing_Program.htm.
   Google Scholar
• Balabanov SM, Braig M, Brummendorf TH. Current aspects in resistance against tyrosine kinase inhibitors in chronic myelogenous leukemia. Drug Discov Today Technol. 2014;11:89–99.
   PubMedGoogle Scholar
• ClinicalTrials.gov. Study of LOXO-101 in subjects with NTRK fusion positive solid tumors, NCI identifier NCT02576431 [Internet]. 2015 [cited 2015 Oct 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT02576431.
   Google Scholar
• Rodon J, Soria JC, Berger R, et al. Challenges in initiating and conducting personalized cancer therapy trials: perspectives from WINTHER, a Worldwide Innovative Network (WIN) Consortium trial. Ann Oncol. 2015;26(8):1791–1798.
   PubMed Web of Science ®Google Scholar
• ClinicalTrials.gov. NCI-MATCH: targeted therapy directed by genetic testing in treating patients with advanced refractory solid tumors or lymphomas [Internet]. 2015. [ cited 2015 Aug]. Available from: https://clinicaltrials.gov/show/NCT02465060.
   Google Scholar
• Salgia R, Hong DS, Camacho LH, et al. A phase I dose-escalation study of the safety and pharmacokinetics (PK) of XL184, a VEGFR and MET kinase inhibitor, administered orally to patients (pts) with advanced malignancies. J Clin Oncol. 2007;25(Suppl 18):14031.
   Google Scholar
• Bentzien F, Zuzow M, Heald N, et al. In vitro and in vivo activity of cabozantinib (XL184), an inhibitor of RET, MET, and VEGFR2, in a model of medullary thyroid cancer. Thyroid. 2013;23(12):1569–1577.
   PubMed Web of Science ®Google Scholar
• Kurzrock R, Sherman SI, Ball DW, et al. Activity of XL184 (cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer. J Clin Oncol. 2011;29(19):2660–2666.
   PubMed Web of Science ®Google Scholar
• Elisei R, Schlumberger MJ, Muller SP, et al. Cabozantinib in progressive medullary thyroid cancer. J Clin Oncol. 2013;31(29):3639–3646.
   PubMed Web of Science ®Google Scholar
• Chuk MK, Widemann BC, Ahern CH, et al. A phase I study of cabozantinib (XL184) in children and adolescents with recurrent or refractory solid tumors, including CNS tumors: A Children’s Oncology Group phase I consortium trial. J Clin Oncol. 2015;32(5s), 2014 (suppl; abstr 10078).
   Google Scholar
• Mossé YP, Lim MS, Voss SD, et al. Safety and activity of crizotinib for paediatric patients with refractory solid tumours or anaplastic large-cell lymphoma: a Children’s Oncology Group phase 1 consortium study. Lancet Oncol. 2013;14(6):472–480.
   Google Scholar
• Kesselheim A, Innovation and the Orphan Drug Act, 1983-2009: regulatory and clinical characteristics of approved orphan drugs. in Rare Diseases and Orphan Products: Accelerating Research and Development., B.T. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development, Field MJ, editor. 2010, Washington (DC): National Academies Press.
   Google Scholar
• Food and Drug Administration. Guidance for industry, expedited programs for serous conditions [Internet]. 2014 [ cited 2015 Oct 25]. Available from: http://www.fda.gov/downloads/drugs/guidancecomplianceregulatoryinformation/guidances/ucm358301.pdf.
   Google Scholar
• Verstovsek S, Kantarjian H, Mesa RA, et al. Safety and efficacy of INCB018424, a JAK1 and JAK2 inhibitor, in myelofibrosis. N Engl J Med. 2010;363(12):1117–1127.
   PubMed Web of Science ®Google Scholar
• Food and Drug Administration. FDA approves first drug to treat a rare bone marrow disease [Internet]. 2011 [ cited 2015 Oct 25]. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm280102.htm.
   Google Scholar
• Kim C, Prasad V. Cancer drugs approved on the basis of a surrogate end point and subsequent overall survival: An analysis of 5 years of us food and drug administration approvals. JAMA Intern Med. 2015;1–2. doi:10.1001/jamainternmed.2015.5868
   Web of Science ®Google Scholar
• Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013;381(9861):125–132.
   PubMed Web of Science ®Google Scholar
• Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. New England J Med. 2010;363(19):1801–1811.
   PubMed Web of Science ®Google Scholar
• Desmoid Tumor Research Foundation [Internet]. 2015. [cited 2015 Sep 16]. Available from: http://www.dtrf.org/index.php.
   Google Scholar
• Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology. 2013;81(21 Suppl 1):S33–40.
   PubMed Web of Science ®Google Scholar
• Dombi E, Solomon J, Gillespie AJ, et al. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology. 2007;68(9):643–647.
   PubMed Web of Science ®Google Scholar
• Plotkin SR, Blakeley JO, Dombi E, et al. Achieving consensus for clinical trials: the REiNS International Collaboration. Neurology. 2013;81(21 Suppl 1):S1–5.
   PubMed Web of Science ®Google Scholar
• Kim A, Gillespie A, Dombi E, et al. Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas. Neurology. 2009;73(16):1273–1279.
   PubMed Web of Science ®Google Scholar
• Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Neuro Oncol. 2014;16(5):707–718.
   PubMed Web of Science ®Google Scholar
• Widemann BC, Babovic-Vuksanovic D, Dombi E, et al. Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Pediatr Blood Cancer. 2014;61(9):1598–1602.
   PubMed Web of Science ®Google Scholar
• Kim A, Dombi E, Tepas K, et al. Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas. Pediatr Blood Cancer. 2013;60(3):396–401.
   PubMed Web of Science ®Google Scholar
• Jakacki R, Dombi E, Potter DM, et al. Preliminary results of a phase II trial of pegylated interferon-alfa-2B (PI) in pediatric patients with documented progression of neurofibromatosis type 1-related unresectable plexiform neurofibromas (PNF). Neuro Oncol. 2012;14:16.
   Google Scholar
• Weiss B, Widemann BC, Wolters P, et al. Sirolimus for progressive neurofibromatosis type 1-associated plexiform sneurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study. Neuro Oncol. 2015;17(4):596–603. doi:10.1093/neuonc/nou235.
   Web of Science ®Google Scholar
• Gutmann DH, Blakeley JO, Korf BR, et al. Optimizing biologically targeted clinical trials for neurofibromatosis. Expert Opin Investig Drugs. 2013;22(4):443–462.
   PubMed Web of Science ®Google Scholar
• Wu J, Dombi E, Jousma E, et al. Preclincial testing of sorafenib and RAD001 in the Nf (fl/fl);DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging. Pediatr Blood Cancer. 2012;58(2):173–180.
   PubMed Web of Science ®Google Scholar
• Jousma E, Rizvi TA, Wu J, et al. Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of neurofibromatosis type 1. Pediatr Blood Cancer. 2015;62(10):1709–1716.
   PubMed Web of Science ®Google Scholar
• Yang FC, Ingram DA, Chen S, et al. Nf1-dependent tumors require a microenvironment containing Nf1+/– and c-kit-dependent bone marrow. Cell. 2008;135(3):437–448.
   PubMed Web of Science ®Google Scholar
• Jessen WJ, Miller SJ, Jousma E, et al. MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest. 2013;123(1):340–347.
   PubMed Web of Science ®Google Scholar
• Widemann BC, Marcus LJ, Fisher MJ, et al. Phase I study of the MEK 1/2 inhibitor selumetinib (AZD6244) hydrogen sulfate in children and young adults with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). J Clin Oncol. 2014;32(5s):abstr 10018.
   Google Scholar
• Killian JK, Miettinen M, Walker RL, et al. Recurrent epimutation of SDHC in gastrointestinal stromal tumors. Sci Transl Med. 2014;6(268):268ra177.
   PubMed Web of Science ®Google Scholar