Neuroblastoma: Paradigm for precision medicine

Pediatric Clinics of North America

Volumn 62, Issue 1, 2015, Pages 225-256

  Irwin, Meredith S ^a   Park, Julie R ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

ALK (anaplastic lymphoma kinase); Immunotherapy; MYCN; Myeloablative therapy (MAT); Neuroblastoma; Phox2B; Risk stratification; Segmental chromosome aberrations (SCA)

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; ANTINEOPLASTIC AGENT; BUSULFAN; CARBOPLATIN; ETOPOSIDE; ISOTRETINOIN; MELPHALAN; TOPOTECAN;

ACUTE GRANULOCYTIC LEUKEMIA; AGE; ALLELE; ANAPLASTIC LYMPHOMA KINASE GENE; CANCER CONTROL; CANCER IMMUNOTHERAPY; CANCER INCIDENCE; CANCER PROGNOSIS; CANCER RECURRENCE; CANCER RISK; CANCER STAGING; CANCER SURVIVAL; CHROMOSOME ABERRATION; CLINICAL FEATURE; CONSOLIDATION CHEMOTHERAPY; DIAGNOSTIC IMAGING; DNA CONTENT; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HYPOTHYROIDISM; INDUCTION CHEMOTHERAPY; INFERTILITY; KIDNEY DYSFUNCTION; MANAGED CARE; MYELODYSPLASTIC SYNDROME; NEUROBLASTOMA; ONCOGENE; ONCOGENE C MYB; OTOTOXICITY; OUTCOME ASSESSMENT; OVARY INSUFFICIENCY; PATIENT SAFETY; PHARMACOGENOMICS; REVIEW; RISK ASSESSMENT; RISK FACTOR; SOMATIC MUTATION; SURVIVAL RATE; TUMOR SUPPRESSOR GENE; GENETICS; MUTATION; PATHOLOGY; PROGNOSIS;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; NEOPLASM STAGING; NEUROBLASTOMA; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS; SURVIVAL RATE;

EID: 84915822692     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2014.09.015     Document Type: Review

References (216)

1. Ries L., Smith M., Gurney J., et al. Cancer incidence and survival among children and adolescents: United States SEER Program 1975-1995, National Cancer Institute, SEER Program 1999, 99-4649. NIH Pub, Bethesda (MD).
2. Stiller C.A., Parkin D.M. International variations in the incidence of neuroblastoma. Int J Cancer 1992, 52(4):538-543.
3. Heck J.E., Ritz B., Hung R.J., et al. The epidemiology of neuroblastoma: a review. Paediatr Perinat Epidemiol 2009, 23(2):125-143.
4. Spix C., Pastore G., Sankila R., et al. Neuroblastoma incidence and survival in European children (1978-1997): report from the automated childhood cancer information system project. Eur J Cancer 2006, 42(13):2081-2091.
5. London W.B., Castleberry R.P., Matthay K.K., et al. Evidence for an age cutoff greater than 365 days for neuroblastoma risk group stratification in the Children's Oncology Group. JClin Oncol 2005, 23(27):6459-6465.
6. Johnson K.A., Aplenc R., Bagatell R. Survival by race among children with extracranial solid tumors in the United States between 1985 and 2005. Pediatr Blood Cancer 2011, 56(3):425-431.
7. Henderson T.O., Bhatia S., Pinto N., et al. Racial and ethnic disparities in risk and survival in children with neuroblastoma: a Children's Oncology Group study. JClin Oncol 2011, 29(1):76-82.
8. Pinto N., Cipkala D.A., Ladd P.E., et al. Treatment of two cases with refractory, metastatic intermediate-risk neuroblastoma with isotretinoin alone or observation. Pediatr Blood Cancer 2014, 61(6):1104-1106.
9. Zahm S.H., Devesa S.S. Childhood cancer: overview of incidence trends andenvironmental carcinogens. Environ Health Perspect 1995, 103(Suppl 6):177-184.
10. Connelly J.M., Malkin M.G. Environmental risk factors for brain tumors. Curr Neurol Neurosci Rep 2007, 7(3):208-214.
11. Yamamoto K., Hayashi Y., Hanada R., et al. Mass screening and age-specific incidence of neuroblastoma in Saitama Prefecture, Japan. JClin Oncol 1995, 13(8):2033-2038.
12. Yamamoto K., Ohta S., Ito E., et al. Marginal decrease in mortality and marked increase in incidence as a result of neuroblastoma screening at 6 months of age: cohort study in seven prefectures in Japan. JClin Oncol 2002, 20(5):1209-1214.
13. Hiyama E., Iehara T., Sugimoto T., et al. Effectiveness of screening for neuroblastoma at 6 months of age: a retrospective population-based cohort study. Lancet 2008, 371(9619):1173-1180.
14. Schilling F.H., Spix C., Berthold F., et al. Neuroblastoma screening at one year of age. NEngl J Med 2002, 346(14):1047-1053.
15. Woods W.G., Gao R.N., Shuster J.J., et al. Screening of infants and mortality due to neuroblastoma. NEngl J Med 2002, 346(14):1041-1046.
16. Maris J.M., Woods W.G. Screening for neuroblastoma: a resurrected idea?. Lancet 2008, 371(9619):1142-1143.
17. Shojaei-Brosseau T., Chompret A., Abel A., et al. Genetic epidemiology of neuroblastoma: a study of 426 cases at the Institut Gustave-Roussy in France. Pediatr Blood Cancer 2004, 42(1):99-105.
18. Trochet D., Bourdeaut F., Janoueix-Lerosey I., et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 2004, 74(4):761-764.
19. Rohrer T., Trachsel D., Engelcke G., et al. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. Pediatr Pulmonol 2002, 33(1):71-76.
20. Mosse Y.P., Laudenslager M., Khazi D., et al. Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet 2004, 75(4):727-730.
21. Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 2009, 10(5):508-515.
22. Clausen N., Andersson P., Tommerup N. Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand 1989, 78(5):736-741.
23. Longo L., Panza E., Schena F., et al. Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered 2007, 63(3-4):205-211.
24. Tonini G.P., McConville C., Cusano R., et al. Exclusion of candidate genes and chromosomal regions in familial neuroblastoma. Int J Mol Med 2001, 7(1):85-89.
25. Maris J.M., Kyemba S.M., Rebbeck T.R., et al. Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res 1996, 56(15):3421-3425.
26. Maris J.M., Weiss M.J., Mosse Y., et al. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res 2002, 62(22):6651-6658.
27. Mosse Y.P., Laudenslager M., Longo L., et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008, 455(7215):930-935.
28. Janoueix-Lerosey I., Lequin D., Brugieres L., et al. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 2008, 455(7215):967-970.
29. de Pontual L., Kettaneh D., Gordon C.T., et al. Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat 2011, 32(3):272-276.
30. George R.E., Sanda T., Hanna M., et al. Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature 2008, 455(7215):975-978.
31. Chen Y., Takita J., Choi Y.L., et al. Oncogenic mutations of ALK kinase in neuroblastoma. Nature 2008, 455(7215):971-974.
32. Schulte J.H., Bachmann H.S., Brockmeyer B., et al. High ALK receptor tyrosine kinase expression supersedes ALK mutation as a determining factor of an unfavorable phenotype in primary neuroblastoma. Clin Cancer Res 2011, 17(15):5082-5092.
33. Weiser D.A., Bresler S.C., Laudenslager M., et al. Stratification of patients with neuroblastoma for targeted ALK inhibitor therapy. JClin Oncol 2011, 29. [abstract: 9514].
34. Berry T., Luther W., Bhatnagar N., et al. The ALK (F1174L) mutation potentiates the oncogenic activity of MYCN in neuroblastoma. Cancer Cell 2012, 22(1):117-130.
35. Heukamp L.C., Thor T., Schramm A., et al. Targeted expression of mutated ALK induces neuroblastoma in transgenic mice. Sci Transl Med 2012, 4(141):141ra191.
36. Zhu S., Lee J.S., Guo F., et al. Activated ALK collaborates with MYCN in neuroblastoma pathogenesis. Cancer Cell 2012, 21(3):362-373.
37. Mosse Y.P., Lim M.S., Voss S.D., 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.
38. DeBaun M.R., Tucker M.A. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. JPediatr 1998, 132(3 Pt 1):398-400.
39. Birch J.M., Alston R.D., McNally R.J., et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001, 20(34):4621-4628.
40. Rossbach H.C., Baschinsky D., Wynn T., et al. Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. Pediatr Blood Cancer 2008, 50(3):681-683.
41. Bissig H., Staehelin F., Tolnay M., et al. Co-occurrence of neuroblastoma and nephroblastoma in an infant with Fanconi's anemia. Hum Pathol 2002, 33(10):1047-1051.
42. Reid S., Schindler D., Hanenberg H., et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007, 39(2):162-164.
43. Maris J.M., Mosse Y.P., Bradfield J.P., et al. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. NEngl J Med 2008, 358(24):2585-2593.
44. Diskin S.J., Capasso M., Schnepp R.W., et al. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet 2012, 44(10):1126-1130.
45. Capasso M., Devoto M., Hou C., et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 2009, 41(6):718-723.
46. Diskin S.J., Hou C., Glessner J.T., et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009, 459(7249):987-991.
47. Wang K., Diskin S.J., Zhang H., et al. Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 2011, 469(7329):216-220.
48. Diskin S.J., Capasso M., Diamond M., et al. Rare variants in TP53 and susceptibility to neuroblastoma. JNatl Cancer Inst 2014, 106(4):dju047.
49. Maris J.M. Recent advances in neuroblastoma. NEngl J Med 2010, 362(23):2202-2211.
50. Vo K.T., Matthay K.K., Neuhaus J., et al. Clinical, biological and prognostic differences based on primary tumor site in neuroblastoma: a report from the International Neuroblastoma Risk Group (INRG) project. JClin Oncol 2014, 32(28):3169-3176.
51. De Bernardi B., Pianca C., Pistamiglio P., et al. Neuroblastoma with symptomatic spinal cord compression at diagnosis: treatment and results with 76 cases. JClin Oncol 2001, 19(1):183-190.
52. El Shafie M., Samuel D., Klippel C.H., et al. Intractable diarrhea in children with VIP-secreting ganglioneuroblastomas. JPediatr Surg 1983, 18(1):34-36.
53. Scheibel E., Rechnitzer C., Fahrenkrug J., et al. Vasoactive intestinal polypeptide (VIP) in children with neural crest tumours. Acta Paediatr Scand 1982, 71(5):721-725.
54. Matthay K.K., Blaes F., Hero B., et al. Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004. Cancer Lett 2005, 228(1-2):275-282.
55. Gorman M.P. Update on diagnosis, treatment, and prognosis in opsoclonus-myoclonus-ataxia syndrome. Curr Opin Pediatr 2010, 22(6):745-750.
56. Dubois S.G., London W.B., Zhang Y., et al. Lung metastases in neuroblastoma at initial diagnosis: a report from the International Neuroblastoma Risk Group (INRG) project. Pediatr Blood Cancer 2008, 51(5):589-592.
57. Kramer K., Kushner B., Heller G., et al. Neuroblastoma metastatic to the central nervous system. The Memorial Sloan-Kettering Cancer Center experience and a literature review. Cancer 2001, 91(8):1510-1519.
58. Matthay K.K., Brisse H., Couanet D., et al. Central nervous system metastases in neuroblastoma: radiologic, clinical, and biologic features in 23 patients. Cancer 2003, 98(1):155-165.
59. Evans A.E., Chatten J., D'Angio G.J., et al. Areview of 17 IV-S neuroblastoma patients at the Children's Hospital of Philadelphia. Cancer 1980, 45(5):833-839.
60. Simon T., Hero B., Benz-Bohm G., et al. Review of image defined risk factors in localized neuroblastoma patients: results of the GPOH NB97 trial. Pediatr Blood Cancer 2008, 50(5):965-969.
61. Cecchetto G., Mosseri V., De Bernardi B., et al. Surgical risk factors in primary surgery for localized neuroblastoma: the LNESG1 study of the European International Society of Pediatric Oncology Neuroblastoma Group. JClin Oncol 2005, 23(33):8483-8489.
62. Messina J.A., Cheng S.C., Franc B.L., et al. Evaluation of semi-quantitative scoring system for metaiodobenzylguanidine (mIBG) scans in patients with relapsed neuroblastoma. Pediatr Blood Cancer 2006, 47(7):865-874.
63. Yanik G.A., Parisi M.T., Shulkin B.L., et al. Semiquantitative mIBG scoring as a prognostic indicator in patients with stage 4 neuroblastoma: a report from the children's oncology group. JNucl Med 2013, 54(4):541-548.
64. Park J.R., Bagatell R., London W.B., et al. Children's Oncology Group's 2013 blueprint for research: neuroblastoma. Pediatr Blood Cancer 2013, 60(6):985-993.
65. Sharp S.E., Shulkin B.L., Gelfand M.J., et al. 123I-MIBG scintigraphy and 18F-FDG PET in neuroblastoma. JNucl Med 2009, 50(8):1237-1243.
66. Zhang H., Huang R., Cheung N.K., et al. Imaging the norepinephrine transporter in neuroblastoma: a comparison of [18F]-MFBG and 123I-MIBG. Clin Cancer Res 2014, 20(8):2182-2191.
67. Taggart D.R., Han M.M., Quach A., et al. Comparison of iodine-123 metaiodobenzylguanidine (MIBG) scan and [18F]fluorodeoxyglucose positron emission tomography to evaluate response after iodine-131 MIBG therapy for relapsed neuroblastoma. JClin Oncol 2009, 27(32):5343-5349.
68. Brodeur G.M., Pritchard J., Berthold F., et al. Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. JClin Oncol 1993, 11(8):1466-1477.
69. Brodeur G.M., Seeger R.C., Barrett A., et al. International criteria for diagnosis, staging, and response to treatment in patients with neuroblastoma. JClin Oncol 1988, 6(12):1874-1881.
70. Cohn S.L., Pearson A.D., London W.B., et al. The International Neuroblastoma Risk Group (INRG) classification system: an INRG task force report. JClin Oncol 2009, 27(2):289-297.
71. Monclair T., Brodeur G.M., Ambros P.F., et al. The International Neuroblastoma Risk Group (INRG) staging system: an INRG task force report. JClin Oncol 2009, 27(2):298-303.
72. Morgenstern D.A., London W.B., Stephens D., et al. Metastatic neuroblastoma confined to distant lymph nodes (stage 4N) predicts outcome in patients with stage 4 disease: a study from the International Neuroblastoma Risk Group Database. JClin Oncol 2014, 32(12):1228-1235.
73. Hartmann O., Valteau-Couanet D., Vassal G., et al. Prognostic factors in metastatic neuroblastoma in patients over 1 year of age treated with high-dose chemotherapy and stem cell transplantation: a multivariate analysis in 218 patients treated in a single institution. Bone Marrow Transplant 1999, 23(8):789-795.
74. George R.E., London W.B., Cohn S.L., et al. Hyperdiploidy plus nonamplified MYCN confers a favorable prognosis in children 12 to 18 months old with disseminated neuroblastoma: a pediatric oncology group study. JClin Oncol 2005, 23(27):6466-6473.
75. Schmidt M.L., Lal A., Seeger R.C., et al. Favorable prognosis for patients 12 to 18 months of age with stage 4 nonamplified MYCN neuroblastoma: a Children's Cancer Group study. JClin Oncol 2005, 23(27):6474-6480.
76. Park J.R., Villablanca J.G., London W.B., et al. Outcome of high-risk stage 3 neuroblastoma with myeloablative therapy and 13-cis-retinoic acid: a report from the children's oncology group. Pediatr Blood Cancer 2009, 52(1):44-50.
77. Park J.R., Eggert A., Caron H. Neuroblastoma: biology, prognosis, and treatment. Hematol Oncol Clin North Am 2010, 24(1):65-86.
78. Mosse Y.P., Deyell R.J., Berthold F., et al. Neuroblastoma in older children, adolescents and young adults: a report from the International Neuroblastoma Risk Group project. Pediatr Blood Cancer 2014, 61(4):627-635.
79. Shimada H., Chatten J., Newton W.A., et al. Histopathologic prognostic factors in neuroblastic tumors: definition of subtypes of ganglioneuroblastoma and an age-linked classification of neuroblastomas. JNatl Cancer Inst 1984, 73(2):405-416.
80. Shimada H., Stram D.O., Chatten J., et al. Identification of subsets of neuroblastomas by combined histopathologic and N-myc analysis. JNatl Cancer Inst 1995, 87(19):1470-1476.
81. Shimada H., Ambros I.M., Dehner L.P., et al. The International Neuroblastoma Pathology Classification (the Shimada system). Cancer 1999, 86(2):364-372.
82. Strother D.R., London W.B., Schmidt M.L., et al. Outcome after surgery alone or with restricted use of chemotherapy for patients with low-risk neuroblastoma: results of children's oncology group study P9641. JClin Oncol 2012, 30(15):1842-1848.
83. Ambros P.F., Ambros I.M., Brodeur G.M., et al. International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee. Br J Cancer 2009, 100(9):1471-1482.
84. Seeger R.C., Brodeur G.M., Sather H., et al. Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas. NEngl J Med 1985, 313(18):1111-1116.
85. Brodeur G.M., Seeger R.C., Schwab M., et al. Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science 1984, 224(4653):1121-1124.
86. Huang M., Weiss W.A. Neuroblastoma and MYCN. Cold Spring Harb Perspect Med 2013, 3(10):a014415.
87. Maris J.M., Hogarty M.D., Bagatell R., et al. Neuroblastoma. Lancet 2007, 369(9579):2106-2120.
88. Cohn S.L., Look A.T., Joshi V.V., et al. Lack of correlation of N-myc gene amplification with prognosis in localized neuroblastoma: a Pediatric Oncology Group study. Cancer Res 1995, 55(4):721-726.
89. Bagatell R., Beck-Popovic M., London W.B., et al. Significance of MYCN amplification in international neuroblastoma staging system stage 1 and 2 neuroblastoma: a report from the International Neuroblastoma Risk Group database. JClin Oncol 2009, 27(3):365-370.
90. Weiss W.A., Aldape K., Mohapatra G., et al. Targeted expression of MYCN causes neuroblastoma in transgenic mice. EMBO J 1997, 16(11):2985-2995.
91. Puissant A., Frumm S.M., Alexe G., et al. Targeting MYCN in neuroblastoma by BET bromodomain inhibition. Cancer Discov 2013, 3(3):308-323.
92. Carpenter E.L., Mosse Y.P. Targeting ALK in neuroblastoma-preclinical and clinical advancements. Nat Rev Clin Oncol 2012, 9(7):391-399.
93. Bown N., Cotterill S., Lastowska M., et al. Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma. NEngl J Med 1999, 340(25):1954-1961.
94. Meddeb M., Danglot G., Chudoba I., et al. Additional copies of a 25 Mb chromosomal region originating from 17q23.1-17qter are present in 90% of high-grade neuroblastomas. Genes Chromosomes Cancer 1996, 17(3):156-165.
95. Attiyeh E.F., London W.B., Mosse Y.P., et al. Chromosome 1p and 11q deletions and outcome in neuroblastoma. NEngl J Med 2005, 353(21):2243-2253.
96. Caron H., van Sluis P., de Kraker J., et al. Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma. NEngl J Med 1996, 334(4):225-230.
97. Riley R.D., Heney D., Jones D.R., et al. Asystematic review of molecular and biological tumor markers in neuroblastoma. Clin Cancer Res 2004, 10(1 Pt 1):4-12.
98. Fujita T., Igarashi J., Okawa E.R., et al. CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas. JNatl Cancer Inst 2008, 100(13):940-949.
99. Liu Z., Yang X., Li Z., et al. CASZ1, a candidate tumor-suppressor gene, suppresses neuroblastoma tumor growth through reprogramming gene expression. Cell Death Differ 2011, 18(7):1174-1183.
100. Guo C., White P.S., Weiss M.J., et al. Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas. Oncogene 1999, 18(35):4948-4957.
101. Nowacki S., Skowron M., Oberthuer A., et al. Expression of the tumour suppressor gene CADM1 is associated with favourable outcome and inhibits cell survival in neuroblastoma. Oncogene 2008, 27(23):3329-3338.
102. Janoueix-Lerosey I., Schleiermacher G., Michels E., et al. Overall genomic patternis a predictor of outcome in neuroblastoma. JClin Oncol 2009, 27(7):1026-1033.
103. Schleiermacher G., Mosseri V., London W.B., et al. Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project. Br J Cancer 2012, 107(8):1418-1422.
104. Schleiermacher G., Michon J., Huon I., et al. Chromosomal CGH identifies patients with a higher risk of relapse in neuroblastoma without MYCN amplification. Br J Cancer 2007, 97(2):238-246.
105. Katzenstein H.M., Bowman L.C., Brodeur G.M., et al. Prognostic significance of age, MYCN oncogene amplification, tumor cell ploidy, and histology in 110 infants with stage D(S) neuroblastoma: the Pediatric Oncology Group experience-a pediatric oncology group study. JClin Oncol 1998, 16(6):2007-2017.
106. Look A.T., Hayes F.A., Shuster J.J., et al. Clinical relevance of tumor cell ploidy and N-myc gene amplification in childhood neuroblastoma: a Pediatric Oncology Group study. JClin Oncol 1991, 9(4):581-591.
107. Bowman L.C., Castleberry R.P., Cantor A., et al. Genetic staging of unresectable or metastatic neuroblastoma in infants: a Pediatric Oncology Group study. JNatl Cancer Inst 1997, 89(5):373-380.
108. Baker D.L., Schmidt M.L., Cohn S.L., et al. Outcome after reduced chemotherapy for intermediate-risk neuroblastoma. NEngl J Med 2010, 363(14):1313-1323.
109. Molenaar J.J., Koster J., Zwijnenburg D.A., et al. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 2012, 483(7391):589-593.
110. Pugh T.J., Morozova O., Attiyeh E.F., et al. The genetic landscape of high-risk neuroblastoma. Nat Genet 2013, 45:279-284.
111. Sausen M., Leary R.J., Jones S., et al. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nat Genet 2013, 45(1):12-17.
112. Cheung N.K., Zhang J., Lu C., et al. Association of age at diagnosis and genetic mutations in patients with neuroblastoma. JAMA 2012, 307(10):1062-1071.
113. De Brouwer S., De Preter K., Kumps C., et al. Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res 2010, 16(17):4353-4362.
114. Passoni L., Longo L., Collini P., et al. Mutation-independent anaplastic lymphoma kinase overexpression in poor prognosis neuroblastoma patients. Cancer Res 2009, 69(18):7338-7346.
115. Schleiermacher G., Javanmardi N., Bernard V., et al. Emergence of new ALK mutations at relapse of neuroblastoma. JClin Oncol 2014, 32:2727-2734.
116. Hovestadt V., Jones D.T., Picelli S., et al. Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing. Nature 2014, 510(7506):537-541.
117. Cole K.A., Maris J.M. New strategies in refractory and recurrent neuroblastoma: translational opportunities to impact patient outcome. Clin Cancer Res 2012, 18(9):2423-2428.
118. Cheung N.K., Dyer M.A. Neuroblastoma: developmental biology, cancer genomics and immunotherapy. Nat Rev Cancer 2013, 13(6):397-411.
119. Brodeur G.M., Minturn J.E., Ho R., et al. Trk receptor expression and inhibition in neuroblastomas. Clin Cancer Res 2009, 15(10):3244-3250.
120. Diede S.J. Spontaneous regression of metastatic cancer: learning from neuroblastoma. Nat Rev Cancer 2014, 14(2):71-72.
121. Minturn J.E., Evans A.E., Villablanca J.G., et al. Phase I trial of lestaurtinib for children with refractory neuroblastoma: a new approaches to neuroblastoma therapy consortium study. Cancer Chemother Pharmacol 2011, 68(4):1057-1065.
122. Pastorino F., Di Paolo D., Loi M., et al. Recent advances in targeted anti-vasculature therapy: the neuroblastoma model. Curr Drug Targets 2009, 10(10):1021-1027.
123. Barone G., Tweddle D.A., Shohet J.M., et al. MDM2-p53 interaction in paediatric solid tumours: preclinical rationale, biomarkers and resistance. Curr Drug Targets 2014, 15(1):114-123.
124. Goldsmith K.C., Lestini B.J., Gross M., et al. BH3 response profiles from neuroblastoma mitochondria predict activity of small molecule Bcl-2 family antagonists. Cell Death Differ 2010, 17(5):872-882.
125. Henderson M.J., Haber M., Porro A., et al. ABCC multidrug transporters in childhood neuroblastoma: clinical and biological effects independent of cytotoxic drug efflux. JNatl Cancer Inst 2011, 103(16):1236-1251.
126. Teitz T., Wei T., Valentine M.B., et al. Caspase 8 is deleted or silenced preferentially in childhood neuroblastomas with amplification of MYCN. Nat Med 2000, 6(5):529-535.
127. Yang Q., Zage P., Kagan D., et al. Association of epigenetic inactivation of RASSF1A with poor outcome in human neuroblastoma. Clin Cancer Res 2004, 10(24):8493-8500.
128. Astuti D., Agathanggelou A., Honorio S., et al. RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours. Oncogene 2001, 20(51):7573-7577.
129. George R.E., Lahti J.M., Adamson P.C., et al. Phase I study of decitabine with doxorubicin and cyclophosphamide in children with neuroblastoma and other solid tumors: a children's oncology group study. Pediatr Blood Cancer 2010, 55(4):629-638.
130. Rossler J., Taylor M., Geoerger B., et al. Angiogenesis as a target in neuroblastoma. Eur J Cancer 2008, 44(12):1645-1656.
131. Glade Bender J., Yamashiro D.J., Fox E. Clinical development of VEGF signaling pathway inhibitors in childhood solid tumors. Oncologist 2011, 16(11):1614-1625.
132. Glade Bender J., Blaney S.M., Borinstein S., et al. Aphase I trial and pharmacokinetic study of aflibercept (VEGF Trap) in children with refractory solid tumors: a children's oncology group phase I consortium report. Clin Cancer Res 2012, 18(18):5081-5089.
133. Vermeulen J., De Preter K., Naranjo A., et al. Predicting outcomes for children withneuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study. Lancet Oncol 2009, 10(7):663-671.
134. De Preter K., Vermeulen J., Brors B., et al. Accurate outcome prediction in neuroblastoma across independent data sets using a multigene signature. Clin Cancer Res 2010, 16(5):1532-1541.
135. Oberthuer A., Berthold F., Warnat P., et al. Customized oligonucleotide microarray gene expression-based classification of neuroblastoma patients outperforms current clinical risk stratification. JClin Oncol 2006, 24(31):5070-5078.
136. Oberthuer A., Hero B., Berthold F., et al. Prognostic impact of gene expression-based classification for neuroblastoma. JClin Oncol 2010, 28(21):3506-3515.
137. Garcia I., Mayol G., Rios J., et al. Athree-gene expression signature model for risk stratification of patients with neuroblastoma. Clin Cancer Res 2012, 18(7):2012-2023.
138. Stricker T.P., Morales La Madrid A., Chlenski A., et al. Validation of a prognostic multi-gene signature in high-risk neuroblastoma using the high throughput digital NanoString nCounter system. Mol Oncol 2014, 8(3):669-678.
139. Asgharzadeh S., Pique-Regi R., Sposto R., et al. Prognostic significance of gene expression profiles of metastatic neuroblastomas lacking MYCN gene amplification. JNatl Cancer Inst 2006, 98(17):1193-1203.
140. Asgharzadeh S., Salo J.A., Ji L., et al. Clinical significance of tumor-associated inflammatory cells in metastatic neuroblastoma. JClin Oncol 2012, 30(28):3525-3532.
141. Buckley P.G., Alcock L., Bryan K., et al. Chromosomal and microRNA expression patterns reveal biologically distinct subgroups of 11q- neuroblastoma. Clin Cancer Res 2010, 16(11):2971-2978.
142. Chen Y., Stallings R.L. Differential patterns of microRNA expression in neuroblastoma are correlated with prognosis, differentiation, and apoptosis. Cancer Res 2007, 67(3):976-983.
143. De Preter K., Mestdagh P., Vermeulen J., et al. miRNA expression profiling enables risk stratification in archived and fresh neuroblastoma tumor samples. Clin Cancer Res 2011, 17(24):7684-7692.
144. Buechner J., Einvik C. N-myc and noncoding RNAs in neuroblastoma. Mol Cancer Res 2012, 10(10):1243-1253.
145. Alvarado C.S., London W.B., Look A.T., et al. Natural history and biology of stage A neuroblastoma: a Pediatric Oncology Group study. JPediatr Hematol Oncol 2000, 22(3):197-205.
146. Perez C.A., Matthay K.K., Atkinson J.B., et al. Biologic variables in the outcome of stages I and II neuroblastoma treated with surgery as primary therapy: a Children's Cancer Group study. JClin Oncol 2000, 18(1):18-26.
147. Simon T., Spitz R., Faldum A., et al. New definition of low-risk neuroblastoma using stage, age, and 1p and MYCN status. JPediatr Hematol Oncol 2004, 26(12):791-796.
148. Simon T., Spitz R., Hero B., et al. Risk estimation in localized unresectable single copy MYCN neuroblastoma by the status of chromosomes 1p and 11q. Cancer Lett 2006, 237(2):215-222.
149. Yamamoto K., Hanada R., Kikuchi A., et al. Spontaneous regression of localizedneuroblastoma detected by mass screening. JClin Oncol 1998, 16(4):1265-1269.
150. Woods W.G., Tuchman M., Robison L.L., et al. Apopulation-based study of the usefulness of screening for neuroblastoma. Lancet 1996, 348(9043):1682-1687.
151. Oue T., Inoue M., Yoneda A., et al. Profile of neuroblastoma detected by mass screening, resected after observation without treatment: results of the wait and see pilot study. JPediatr Surg 2005, 40(2):359-363.
152. Rubie H., De Bernardi B., Gerrard M., et al. Excellent outcome with reduced treatment in infants with nonmetastatic and unresectable neuroblastoma without MYCN amplification: results of the prospective INES 99.1. JClin Oncol 2011, 29(4):449-455.
153. Hero B., Simon T., Spitz R., et al. Localized infant neuroblastomas often show spontaneous regression: results of the prospective trials NB95-S and NB97. JClin Oncol 2008, 26(9):1504-1510.
154. Nuchtern J.G., London W.B., Barnewolt C.E., et al. Aprospective study of expectant observation as primary therapy for neuroblastoma in young infants: a children's oncology group study. Ann Surg 2012, 256(4):573-580.
155. D'Angio G.J., Evans A.E., Koop C.E. Special pattern of widespread neuroblastoma with a favourable prognosis. Lancet 1971, 1(7708):1046-1049.
156. Nickerson H.J., Matthay K.K., Seeger R.C., et al. Favorable biology and outcome of stage IV-S neuroblastoma with supportive care or minimal therapy: a Children's Cancer Group study. JClin Oncol 2000, 18(3):477-486.
157. Twist C., London W.B., Naranjo A.N., et al. Maintaining outstanding outcomes using response- and biology-based therapy for intermediate-risk neuroblastoma: a report from the Children's Oncology Group study ANBL0531. JClin Oncol 2014, 32:5s. [suppl; abstract: 10006].
158. De Bernardi B., Mosseri V., Rubie H., et al. Treatment of localised resectable neuroblastoma. Results of the LNESG1 study by the SIOP Europe Neuroblastoma Group. Br J Cancer 2008, 99(7):1027-1033.
159. Matthay K.K., Perez C., Seeger R.C., et al. Successful treatment of stage III neuroblastoma based on prospective biologic staging: a Children's Cancer Group study. JClin Oncol 1998, 16(4):1256-1264.
160. Schmidt M.L., Lukens J.N., Seeger R.C., et al. Biologic factors determine prognosis in infants with stage IV neuroblastoma: a prospective Children's Cancer Group study. JClin Oncol 2000, 18(6):1260-1268.
161. Meany H.J., London W.B., Ambros P.F., et al. Significance of clinical and biologic features in Stage 3 neuroblastoma: a report from the International Neuroblastoma Risk Group Project. Pediatr Blood Cancer 2014, 61:1932-1939.
162. Kushner B.H., Cheung N.K., LaQuaglia M.P., et al. Survival from locally invasive or widespread neuroblastoma without cytotoxic therapy. JClin Oncol 1996, 14(2):373-381.
163. Ladernstein R.L., Poetschger U., Luksch R., et al. Busulfan-melphalan as a myeloablative therapy (MAT) for high risk neuroblastoma: results from the HR-NBL1/SIOPEN trial. ASCO Annual Meeting Proceedings. JClin Oncol 2011, 29. [abstract: 2].
164. Matthay K.K., Reynolds C.P., Seeger R.C., et al. Long-term results for children with high-risk neuroblastoma treated on a randomized trial of myeloablative therapy followed by 13-cis-retinoic acid: a Children's Oncology Group study. JClin Oncol 2009, 27(7):1007-1013. [Erratum appears in J Clin Oncol 2014;32:1862-3].
165. Pearson A.D., Pinkerton C.R., Lewis I.J., et al. High-dose rapid and standard induction chemotherapy for patients aged over 1 year with stage 4 neuroblastoma: a randomised trial. Lancet Oncol 2008, 9(3):247-256.
166. Yu A.L., Gilman A.L., Ozkaynak M.F., et al. Anti-GD2 antibody with GM-CSF, interleukin-2, and isotretinoin for neuroblastoma. NEngl J Med 2010, 363(14):1324-1334.
167. Berthold F., Boos J., Burdach S., et al. Myeloablative megatherapy with autologous stem-cell rescue versus oral maintenance chemotherapy as consolidation treatment in patients with high-risk neuroblastoma: a randomised controlled trial. Lancet Oncol 2005, 6(9):649-658.
168. Kreissman S.G., Seeger R.C., Matthay K.K., et al. Purged versus non-purged peripheral blood stem-cell transplantation for high-risk neuroblastoma (COG A3973): a randomised phase 3 trial. Lancet Oncol 2013, 14(10):999-1008.
169. Matthay K.K., Villablanca J.G., Seeger R.C., et al. Treatment of high-risk neuroblastoma with intensive chemotherapy, radiotherapy, autologous bone marrow transplantation, and 13-cis-retinoic acid. Children's Cancer Group. NEngl J Med 1999, 341(16):1165-1173.
170. London W.B., Frantz C.N., Campbell L.A., et al. Phase II randomized comparison of topotecan plus cyclophosphamide versus topotecan alone in children with recurrent or refractory neuroblastoma: a Children's Oncology Group study. JClin Oncol 2010, 28(24):3808-3815.
171. Park J.R., Scott J.R., Stewart C.F., et al. Pilot induction regimen incorporating pharmacokinetically guided topotecan for treatment of newly diagnosed high-risk neuroblastoma: a Children's Oncology Group study. JClin Oncol 2011, 29(33):4351-4357.
172. Adkins E.S., Sawin R., Gerbing R.B., et al. Efficacy of complete resection for high-risk neuroblastoma: a Children's Cancer Group study. JPediatr Surg 2004, 39(6):931-936.
173. Zwaveling S., Tytgat G.A., van der Zee D.C., et al. Is complete surgical resection of stage 4 neuroblastoma a prerequisite for optimal survival or may>95 % tumour resection suffice?. Pediatr Surg Int 2012, 28(10):953-959.
174. Simon T., Haberle B., Hero B., et al. Role of surgery in the treatment of patients with stage 4 neuroblastoma age 18 months or older at diagnosis. JClin Oncol 2013, 31(6):752-758.
175. Holmes K, ASarnacki S, Poetschger U, etal. Influence of surgical excision on survival of patients with high risk neuroblastoma: report from Study 1 of SIOPEN. Advances in Neuroblastoma Research Meeting, May 15, 2014. Cologne, 2014; PL-012.
176. Von Allmen D, Davidoff A, London WB, etal. Influence of extent of resection on survival in high risk neuroblasotma: report from COG A3793 Study. Advances in Neuroblastoma Research Meeting, May 15, 2014. Cologne, 2014. 2014; OR-067.
177. Haas-Kogan D.A., Swift P.S., Selch M., et al. Impact of radiotherapy for high-risk neuroblastoma: a Children's Cancer Group study. Int J Radiat Oncol Biol Phys 2003, 56(1):28-39.
178. Kushner B.H., Wolden S., LaQuaglia M.P., et al. Hyperfractionated low-dose radiotherapy for high-risk neuroblastoma after intensive chemotherapy and surgery. JClin Oncol 2001, 19(11):2821-2828.
179. Polishchuk A.L., Li R., Hill-Kayser C., et al. Likelihood of bone recurrence in prior sites of metastasis in patients with high-risk neuroblastoma. Int J Radiat Oncol Biol Phys 2014, 89(4):839-845.
180. Ladenstein R., Potschger U., Hartman O., et al. 28 years of high-dose therapy and SCT for neuroblastoma in Europe: lessons from more than 4000 procedures. Bone Marrow Transplant 2008, 41(Suppl 2):S118-S127.
181. Pritchard J., Cotterill S.J., Germond S.M., et al. High dose melphalan in the treatment of advanced neuroblastoma: results of a randomised trial (ENSG-1) by the European Neuroblastoma Study Group. Pediatr Blood Cancer 2005, 44(4):348-357.
182. Yalcin B., Kremer L.C., Caron H.N., et al. High-dose chemotherapy and autologous haematopoietic stem cell rescue for children with high-risk neuroblastoma. Cochrane Database Syst Rev 2013, (8). CD006301.
183. George R.E., Li S., Medeiros-Nancarrow C., et al. High-risk neuroblastoma treated with tandem autologous peripheral-blood stem cell-supported transplantation: long-term survival update. JClin Oncol 2006, 24(18):2891-2896.
184. Simon T., Hero B., Faldum A., et al. Long term outcome of high-risk neuroblastoma patients after immunotherapy with antibody ch14.18 or oral metronomic chemotherapy. BMC Cancer 2011, 11:21.
185. Cheung N.K., Cheung I.Y., Kushner B.H., et al. Murine anti-GD2 monoclonal antibody 3F8 combined with granulocyte-macrophage colony-stimulating factor and 13-cis-retinoic acid in high-risk patients with stage 4 neuroblastoma in first remission. JClin Oncol 2012, 30(26):3264-3270.
186. Cohen L.E., Gordon J.H., Popovsky E.Y., et al. Late effects in children treated with intensive multimodal therapy for high-risk neuroblastoma: high incidence of endocrine and growth problems. Bone Marrow Transplant 2014, 49(4):502-508.
187. Laverdiere C., Liu Q., Yasui Y., et al. Long-term outcomes in survivors of neuroblastoma: a report from the Childhood Cancer Survivor Study. JNatl Cancer Inst 2009, 101(16):1131-1140.
188. Moreno L., Vaidya S.J., Pinkerton C.R., et al. Long-term follow-up of children with high-risk neuroblastoma: the ENSG5 trial experience. Pediatr Blood Cancer 2013, 60(7):1135-1140.
189. Perwein T., Lackner H., Sovinz P., et al. Survival and late effects in children with stage 4 neuroblastoma. Pediatr Blood Cancer 2011, 57(4):629-635.
190. Trahair T.N., Vowels M.R., Johnston K., et al. Long-term outcomes in children with high-risk neuroblastoma treated with autologous stem cell transplantation. Bone Marrow Transplant 2007, 40(8):741-746.
191. Ross C.J., Katzov-Eckert H., Dube M.P., et al. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Nat Genet 2009, 41(12):1345-1349.
192. Martin A., Schneiderman J., Helenowski I.B., et al. Secondary malignant neoplasms after high-dose chemotherapy and autologous stem cell rescue for high-risk neuroblastoma. Pediatr Blood Cancer 2014, 61(8):1350-1356.
193. Kushner B.H., Kramer K., Modak S., et al. Reduced risk of secondary leukemia with fewer cycles of dose-intensive induction chemotherapy in patients with neuroblastoma. Pediatr Blood Cancer 2009, 53(1):17-22.
194. De Bernardi B., Quaglietta L., Haupt R., et al. Neuroblastoma with symptomatic epidural compression in the infant: the AIEOP experience. Pediatr Blood Cancer 2014, 61(8):1369-1375.
195. London W.B., Castel V., Monclair T., et al. Clinical and biologic features predictive of survival after relapse of neuroblastoma: a report from the International Neuroblastoma Risk Group project. JClin Oncol 2011, 29(24):3286-3292.
196. Morgenstern D.A., Baruchel S., Irwin M.S. Current and future strategies for relapsed neuroblastoma: challenges on the road to precision therapy. JPediatr Hematol Oncol 2013, 35(5):337-347.
197. Modak S., Cheung N.K. Neuroblastoma: therapeutic strategies for a clinical enigma. Cancer Treat Rev 2010, 36(4):307-317.
198. Di Giannatale A., Dias-Gastellier N., Devos A., et al. Phase II study of temozolomide in combination with topotecan (TOTEM) in relapsed or refractory neuroblastoma: a European Innovative Therapies for Children with Cancer-SIOP-European Neuroblastoma study. Eur J Cancer 2014, 50(1):170-177.
199. Kushner B.H., Kramer K., Modak S., et al. Differential impact of high-dose cyclophosphamide, topotecan, and vincristine in clinical subsets of patients with chemoresistant neuroblastoma. Cancer 2010, 116(12):3054-3060.
200. Garaventa A., Luksch R., Biasotti S., et al. Aphase II study of topotecan with vincristine and doxorubicin in children with recurrent/refractory neuroblastoma. Cancer 2003, 98(11):2488-2494.
201. Kushner B.H., Modak S., Kramer K., et al. Ifosfamide, carboplatin, and etoposide for neuroblastoma: a high-dose salvage regimen and review of the literature. Cancer 2013, 119(3):665-671.
202. Lashford L.S., Lewis I.J., Fielding S.L., et al. Phase I/II study of iodine 131 metaiodobenzylguanidine in chemoresistant neuroblastoma: a United Kingdom Children's Cancer Study Group investigation. JClin Oncol 1992, 10(12):1889-1896.
203. Matthay K.K., Tan J.C., Villablanca J.G., et al. Phase I dose escalation of iodine-131-metaiodobenzylguanidine with myeloablative chemotherapy and autologous stem-cell transplantation in refractory neuroblastoma: a new approaches to Neuroblastoma Therapy Consortium Study. JClin Oncol 2006, 24(3):500-506.
204. Matthay K.K., DeSantes K., Hasegawa B., et al. Phase I dose escalation of 131I-metaiodobenzylguanidine with autologous bone marrow support in refractory neuroblastoma. JClin Oncol 1998, 16(1):229-236.
205. Matthay K.K., Yanik G., Messina J., et al. Phase II study on the effect of disease sites, age, and prior therapy on response to iodine-131-metaiodobenzylguanidine therapy in refractory neuroblastoma. JClin Oncol 2007, 25(9):1054-1060.
206. Xu Y., Sun J., Sheard M.A., et al. Lenalidomide overcomes suppression of human natural killer cell anti-tumor functions by neuroblastoma microenvironment-associated IL-6 and TGFbeta1. Cancer Immunol Immunother 2013, 62(10):1637-1648.
207. Koehn T.A., Trimble L.L., Alderson K.L., et al. Increasing the clinical efficacy of NK and antibody-mediated cancer immunotherapy: potential predictors of successful clinical outcome based on observations in high-risk neuroblastoma. Front Pharmacol 2012, 3:91.
208. Heczey A., Louis C.U. Advances in chimeric antigen receptor immunotherapy for neuroblastoma. Discov Med 2013, 16(90):287-294.
209. Louis C.U., Savoldo B., Dotti G., et al. Antitumor activity and long-term fate of chimeric antigen receptor-positive T cells in patients with neuroblastoma. Blood 2011, 118(23):6050-6056.
210. Pule M.A., Savoldo B., Myers G.D., et al. Virus-specific T cells engineered to coexpress tumor-specific receptors: persistence and antitumor activity in individuals with neuroblastoma. Nat Med 2008, 14(11):1264-1270.
211. Park J.R., Digiusto, D.L., Slovak M., et al. Adoptive transfer of chimeric antigen receptor re-directed cytolytic T lymphocyte clones in patients with neuroblastoma. Mol Ther 2007, 15(4):825-833.
212. Bresler S.C., Wood A.C., Haglund E.A., et al. Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma. Sci Transl Med 2011, 3(108):108ra114.
213. Barone G., Anderson J., Pearson A.D., et al. New strategies in neuroblastoma: therapeutic targeting of MYCN and ALK. Clin Cancer Res 2013, 19(21):5814-5821.
214. Hogarty M.D., Norris M.D., Davis K., et al. ODC1 is a critical determinant of MYCN oncogenesis and a therapeutic target in neuroblastoma. Cancer Res 2008, 68(23):9735-9745.
215. Witt O., Deubzer H.E., Lodrini M., et al. Targeting histone deacetylases in neuroblastoma. Curr Pharm Des 2009, 15(4):436-447.
216. Schleirmacher G., Javanmardi N., Bernard V., et al. Emergence of new ALK mutations at relapse in neuroblastoma. J Clin Oncol 2014, 32(25):2727-2734.