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Published in: Cancer and Metastasis Reviews 1/2020

01-03-2020 | Neuroblastoma

Genetic predisposition and chromosome instability in neuroblastoma

Authors: Gian Paolo Tonini, Mario Capasso

Published in: Cancer and Metastasis Reviews | Issue 1/2020

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Abstract

Neuroblastoma (NB) is a pediatric tumor of embryonic origin. About 1–2% of all NBs are familial cases, and genetic predisposition is suspected for the remaining cases. During the last decade, genome-wide association studies (GWAS) and high-throughput sequencing approaches have been used to identify associations among common and rare genetic variants and NB risk. Substantial data has been produced by large patient cohorts that implicate various genes in NB tumorigenesis, such as CASC15, BARD1, CHEK2, LMO1, LIN28B, AXIN2, BRCA1, TP53, SMARCA4, and CDK1NB. NB, as well as other pediatric cancers, has few recurrent mutations but several copy number variations (CNVs). Almost all NBs show both numerical and structural CNVs. The proportion between numerical and structural CNVs differs between localized and metastatic tumors, with a greater prevalence of structural CNVs in metastatic NB. This genomic chaos frequently identified in NBs suggests that chromosome instability (CIN) could be one of the major actors in NB oncogenesis. Interestingly, many NB-predisposing variants occur in genes involved in the control of genome stability, mitosis, and normal chromosome separation. Here, we discuss the relationship between genetic predisposition and CIN in NB.
Literature
4.
go back to reference Russo, R., Cimmino, F., Pezone, L., Manna, F., Avitabile, M., Langella, C., Koster, J., Casale, F., Raia, M., Viola, G., Fischer, M., Iolascon, A., & Capasso, M. (2017). Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients. Carcinogenesis, 38(10), 1011–1020. https://doi.org/10.1093/carcin/bgx077.CrossRefPubMed Russo, R., Cimmino, F., Pezone, L., Manna, F., Avitabile, M., Langella, C., Koster, J., Casale, F., Raia, M., Viola, G., Fischer, M., Iolascon, A., & Capasso, M. (2017). Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients. Carcinogenesis, 38(10), 1011–1020. https://​doi.​org/​10.​1093/​carcin/​bgx077.CrossRefPubMed
8.
go back to reference Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., Becksfort, J. B., Wang, S., Weaver, M. S., Ding, L., Mardis, E. R., Wilson, R. K., Gajjar, A., Ellison, D. W., Pappo, A. S., Pui, C. H., Nichols, K. E., & Downing, J. R. (2015). Germline mutations in predisposition genes in pediatric cancer. The New England Journal of Medicine, 373(24), 2336–2346. https://doi.org/10.1056/NEJMoa1508054.CrossRefPubMedPubMedCentral Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., Becksfort, J. B., Wang, S., Weaver, M. S., Ding, L., Mardis, E. R., Wilson, R. K., Gajjar, A., Ellison, D. W., Pappo, A. S., Pui, C. H., Nichols, K. E., & Downing, J. R. (2015). Germline mutations in predisposition genes in pediatric cancer. The New England Journal of Medicine, 373(24), 2336–2346. https://​doi.​org/​10.​1056/​NEJMoa1508054.CrossRefPubMedPubMedCentral
9.
go back to reference Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frébourg, T., Munnich, A., Lyonnet, S., Delattre, O., & Amiel, J. (2004). Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. American Journal of Human Genetics, 74(4), 761–764. https://doi.org/10.1086/383253.CrossRefPubMedPubMedCentral Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frébourg, T., Munnich, A., Lyonnet, S., Delattre, O., & Amiel, J. (2004). Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. American Journal of Human Genetics, 74(4), 761–764. https://​doi.​org/​10.​1086/​383253.CrossRefPubMedPubMedCentral
12.
go back to reference Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., et al. (2003). Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics, 33(4), 459–461. https://doi.org/10.1038/ng1130.CrossRefPubMed Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., et al. (2003). Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics, 33(4), 459–461. https://​doi.​org/​10.​1038/​ng1130.CrossRefPubMed
24.
go back to reference Longo, L., Panza, E., Schena, F., Seri, M., Devoto, M., Romeo, G., Bini, C., Pappalardo, G., Tonini, G. P., & Perri, P. (2007). Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Human Heredity, 63(3–4), 205–211. https://doi.org/10.1159/000099997.CrossRefPubMed Longo, L., Panza, E., Schena, F., Seri, M., Devoto, M., Romeo, G., Bini, C., Pappalardo, G., Tonini, G. P., & Perri, P. (2007). Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Human Heredity, 63(3–4), 205–211. https://​doi.​org/​10.​1159/​000099997.CrossRefPubMed
26.
29.
go back to reference Bresler, S. C., Weiser, D. A., Huwe, P. J., Park, J. H., Krytska, K., Ryles, H., Laudenslager, M., Rappaport, E. F., Wood, A. C., McGrady, P., Hogarty, M. D., London, W. B., Radhakrishnan, R., Lemmon, M. A., & Mossé, Y. P. (2014). ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma. Cancer Cell, 26(5), 682–694. https://doi.org/10.1016/j.ccell.2014.09.019.CrossRefPubMedPubMedCentral Bresler, S. C., Weiser, D. A., Huwe, P. J., Park, J. H., Krytska, K., Ryles, H., Laudenslager, M., Rappaport, E. F., Wood, A. C., McGrady, P., Hogarty, M. D., London, W. B., Radhakrishnan, R., Lemmon, M. A., & Mossé, Y. P. (2014). ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma. Cancer Cell, 26(5), 682–694. https://​doi.​org/​10.​1016/​j.​ccell.​2014.​09.​019.CrossRefPubMedPubMedCentral
30.
go back to reference de Pontual, L., Kettaneh, D., Gordon, C. T., Oufadem, M., Boddaert, N., Lees, M., Balu, L., Lachassinne, E., Petros, A., Mollet, J., Wilson, L. C., Munnich, A., Brugière, L., Delattre, O., Vekemans, M., Etchevers, H., Lyonnet, S., Janoueix-Lerosey, I., & Amiel, J. (2011). Germline gain-of-function mutations of ALK disrupt central nervous system development. Human Mutation, 32(3), 272–276. https://doi.org/10.1002/humu.21442.CrossRefPubMed de Pontual, L., Kettaneh, D., Gordon, C. T., Oufadem, M., Boddaert, N., Lees, M., Balu, L., Lachassinne, E., Petros, A., Mollet, J., Wilson, L. C., Munnich, A., Brugière, L., Delattre, O., Vekemans, M., Etchevers, H., Lyonnet, S., Janoueix-Lerosey, I., & Amiel, J. (2011). Germline gain-of-function mutations of ALK disrupt central nervous system development. Human Mutation, 32(3), 272–276. https://​doi.​org/​10.​1002/​humu.​21442.CrossRefPubMed
33.
go back to reference Debruyne, D. N., Dries, R., Sengupta, S., Seruggia, D., Gao, Y., Sharma, B., Huang, H., Moreau, L., McLane, M., Day, D. S., Marco, E., Chen, T., Gray, N. S., Wong, K. K., Orkin, S. H., Yuan, G. C., Young, R. A., & George, R. E. (2019). BORIS promotes chromatin regulatory interactions in treatment-resistant cancer cells. Nature, 572(7771), 676–680. https://doi.org/10.1038/s41586-019-1472-0.CrossRefPubMedPubMedCentral Debruyne, D. N., Dries, R., Sengupta, S., Seruggia, D., Gao, Y., Sharma, B., Huang, H., Moreau, L., McLane, M., Day, D. S., Marco, E., Chen, T., Gray, N. S., Wong, K. K., Orkin, S. H., Yuan, G. C., Young, R. A., & George, R. E. (2019). BORIS promotes chromatin regulatory interactions in treatment-resistant cancer cells. Nature, 572(7771), 676–680. https://​doi.​org/​10.​1038/​s41586-019-1472-0.CrossRefPubMedPubMedCentral
35.
go back to reference Maris, J. M., Weiss, M. J., Mosse, Y., Hii, G., Guo, C., White, P. S., Hogarty, M. D., Mirensky, T., Brodeur, G. M., Rebbeck, T. R., Urbanek, M., & Shusterman, S. (2002). Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Research, 62(22), 6651–6658.PubMed Maris, J. M., Weiss, M. J., Mosse, Y., Hii, G., Guo, C., White, P. S., Hogarty, M. D., Mirensky, T., Brodeur, G. M., Rebbeck, T. R., Urbanek, M., & Shusterman, S. (2002). Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Research, 62(22), 6651–6658.PubMed
37.
42.
go back to reference Esposito, M. R., Binatti, A., Pantile, M., Coppe, A., Mazzocco, K., Longo, L., Capasso, M., Lasorsa, V. A., Luksch, R., Bortoluzzi, S., & Tonini, G. P. (2018). Somatic mutations in specific and connected subpathways are associated with short neuroblastoma patients’ survival and indicate proteins targetable at onset of disease. International Journal of Cancer, 143(10), 2525–2536. https://doi.org/10.1002/ijc.31748.CrossRefPubMed Esposito, M. R., Binatti, A., Pantile, M., Coppe, A., Mazzocco, K., Longo, L., Capasso, M., Lasorsa, V. A., Luksch, R., Bortoluzzi, S., & Tonini, G. P. (2018). Somatic mutations in specific and connected subpathways are associated with short neuroblastoma patients’ survival and indicate proteins targetable at onset of disease. International Journal of Cancer, 143(10), 2525–2536. https://​doi.​org/​10.​1002/​ijc.​31748.CrossRefPubMed
43.
go back to reference Pugh, T. J., Morozova, O., Attiyeh, E. F., Asgharzadeh, S., Wei, J. S., Auclair, D., Carter, S. L., Cibulskis, K., Hanna, M., Kiezun, A., Kim, J., Lawrence, M. S., Lichenstein, L., McKenna, A., Pedamallu, C. S., Ramos, A. H., Shefler, E., Sivachenko, A., Sougnez, C., Stewart, C., Ally, A., Birol, I., Chiu, R., Corbett, R. D., Hirst, M., Jackman, S. D., Kamoh, B., Khodabakshi, A. H., Krzywinski, M., Lo, A., Moore, R. A., Mungall, K. L., Qian, J., Tam, A., Thiessen, N., Zhao, Y., Cole, K. A., Diamond, M., Diskin, S. J., Mosse, Y. P., Wood, A. C., Ji, L., Sposto, R., Badgett, T., London, W. B., Moyer, Y., Gastier-Foster, J. M., Smith, M. A., Guidry Auvil, J. M., Gerhard, D. S., Hogarty, M. D., Jones, S. J., Lander, E. S., Gabriel, S. B., Getz, G., Seeger, R. C., Khan, J., Marra, M. A., Meyerson, M., & Maris, J. M. (2013). The genetic landscape of high-risk neuroblastoma. Nature Genetics, 45(3), 279–284. https://doi.org/10.1038/ng.2529.CrossRefPubMedPubMedCentral Pugh, T. J., Morozova, O., Attiyeh, E. F., Asgharzadeh, S., Wei, J. S., Auclair, D., Carter, S. L., Cibulskis, K., Hanna, M., Kiezun, A., Kim, J., Lawrence, M. S., Lichenstein, L., McKenna, A., Pedamallu, C. S., Ramos, A. H., Shefler, E., Sivachenko, A., Sougnez, C., Stewart, C., Ally, A., Birol, I., Chiu, R., Corbett, R. D., Hirst, M., Jackman, S. D., Kamoh, B., Khodabakshi, A. H., Krzywinski, M., Lo, A., Moore, R. A., Mungall, K. L., Qian, J., Tam, A., Thiessen, N., Zhao, Y., Cole, K. A., Diamond, M., Diskin, S. J., Mosse, Y. P., Wood, A. C., Ji, L., Sposto, R., Badgett, T., London, W. B., Moyer, Y., Gastier-Foster, J. M., Smith, M. A., Guidry Auvil, J. M., Gerhard, D. S., Hogarty, M. D., Jones, S. J., Lander, E. S., Gabriel, S. B., Getz, G., Seeger, R. C., Khan, J., Marra, M. A., Meyerson, M., & Maris, J. M. (2013). The genetic landscape of high-risk neuroblastoma. Nature Genetics, 45(3), 279–284. https://​doi.​org/​10.​1038/​ng.​2529.CrossRefPubMedPubMedCentral
50.
go back to reference Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L. M., Clericuzio, C. L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M. L., Joss, S., Kinning, E., Lynch, S. A., Magee, A., McConnell, V., Medeira, A., Ozono, K., Patton, M., Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., van Maldergem, L., Temple, I. K., Cole, T., Seal, S., Childhood Overgrowth Consortium, & Rahman, N. (2013). Weaver syndrome and EZH2 mutations: clarifying the clinical phenotype. American Journal of Medical Genetics. Part A, 161A(12), 2972–2980. https://doi.org/10.1002/ajmg.a.36229.CrossRefPubMed Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L. M., Clericuzio, C. L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M. L., Joss, S., Kinning, E., Lynch, S. A., Magee, A., McConnell, V., Medeira, A., Ozono, K., Patton, M., Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., van Maldergem, L., Temple, I. K., Cole, T., Seal, S., Childhood Overgrowth Consortium, & Rahman, N. (2013). Weaver syndrome and EZH2 mutations: clarifying the clinical phenotype. American Journal of Medical Genetics. Part A, 161A(12), 2972–2980. https://​doi.​org/​10.​1002/​ajmg.​a.​36229.CrossRefPubMed
52.
go back to reference Maas, S. M., Vansenne, F., Kadouch, D. J., Ibrahim, A., Bliek, J., Hopman, S., Mannens, M. M., Merks, J. H., Maher, E. R., & Hennekam, R. C. (2016). Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. American Journal of Medical Genetics. Part A, 170(9), 2248–2260. https://doi.org/10.1002/ajmg.a.37801.CrossRefPubMed Maas, S. M., Vansenne, F., Kadouch, D. J., Ibrahim, A., Bliek, J., Hopman, S., Mannens, M. M., Merks, J. H., Maher, E. R., & Hennekam, R. C. (2016). Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. American Journal of Medical Genetics. Part A, 170(9), 2248–2260. https://​doi.​org/​10.​1002/​ajmg.​a.​37801.CrossRefPubMed
55.
go back to reference Russell, M. R., Penikis, A., Oldridge, D. A., Alvarez-Dominguez, J. R., McDaniel, L., Diamond, M., Padovan, O., Raman, P., Li, Y., Wei, J. S., Zhang, S., Gnanchandran, J., Seeger, R., Asgharzadeh, S., Khan, J., Diskin, S. J., Maris, J. M., & Cole, K. A. (2015). CASC15-S is a tumor suppressor lncRNA at the 6p22 neuroblastoma susceptibility locus. Cancer Research, 75(15), 3155–3166. https://doi.org/10.1158/0008-5472.CAN-14-3613.CrossRefPubMedPubMedCentral Russell, M. R., Penikis, A., Oldridge, D. A., Alvarez-Dominguez, J. R., McDaniel, L., Diamond, M., Padovan, O., Raman, P., Li, Y., Wei, J. S., Zhang, S., Gnanchandran, J., Seeger, R., Asgharzadeh, S., Khan, J., Diskin, S. J., Maris, J. M., & Cole, K. A. (2015). CASC15-S is a tumor suppressor lncRNA at the 6p22 neuroblastoma susceptibility locus. Cancer Research, 75(15), 3155–3166. https://​doi.​org/​10.​1158/​0008-5472.​CAN-14-3613.CrossRefPubMedPubMedCentral
56.
go back to reference Capasso, M., Diskin, S. J., Totaro, F., Longo, L., De Mariano, M., Russo, R., et al. (2013). Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis, 34(3), 605–611. https://doi.org/10.1093/carcin/bgs380.CrossRefPubMed Capasso, M., Diskin, S. J., Totaro, F., Longo, L., De Mariano, M., Russo, R., et al. (2013). Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis, 34(3), 605–611. https://​doi.​org/​10.​1093/​carcin/​bgs380.CrossRefPubMed
58.
go back to reference Pandey, G. K., Mitra, S., Subhash, S., Hertwig, F., Kanduri, M., Mishra, K., Fransson, S., Ganeshram, A., Mondal, T., Bandaru, S., Ostensson, M., Akyürek, L. M., Abrahamsson, J., Pfeifer, S., Larsson, E., Shi, L., Peng, Z., Fischer, M., Martinsson, T., Hedborg, F., Kogner, P., & Kanduri, C. (2014). The risk-associated long noncoding RNA NBAT-1 controls neuroblastoma progression by regulating cell proliferation and neuronal differentiation. Cancer Cell, 26(5), 722–737. https://doi.org/10.1016/j.ccell.2014.09.014.CrossRefPubMed Pandey, G. K., Mitra, S., Subhash, S., Hertwig, F., Kanduri, M., Mishra, K., Fransson, S., Ganeshram, A., Mondal, T., Bandaru, S., Ostensson, M., Akyürek, L. M., Abrahamsson, J., Pfeifer, S., Larsson, E., Shi, L., Peng, Z., Fischer, M., Martinsson, T., Hedborg, F., Kogner, P., & Kanduri, C. (2014). The risk-associated long noncoding RNA NBAT-1 controls neuroblastoma progression by regulating cell proliferation and neuronal differentiation. Cancer Cell, 26(5), 722–737. https://​doi.​org/​10.​1016/​j.​ccell.​2014.​09.​014.CrossRefPubMed
59.
go back to reference Mondal, T., Juvvuna, P. K., Kirkeby, A., Mitra, S., Kosalai, S. T., Traxler, L., Hertwig, F., Wernig-Zorc, S., Miranda, C., Deland, L., Volland, R., Bartenhagen, C., Bartsch, D., Bandaru, S., Engesser, A., Subhash, S., Martinsson, T., Carén, H., Akyürek, L. M., Kurian, L., Kanduri, M., Huarte, M., Kogner, P., Fischer, M., & Kanduri, C. (2018). Sense-antisense lncRNA pair encoded by locus 6p22.3 determines neuroblastoma susceptibility via the USP36-CHD7-SOX9 regulatory axis. Cancer Cell, 33(3), 417–434 e417. https://doi.org/10.1016/j.ccell.2018.01.020.CrossRefPubMed Mondal, T., Juvvuna, P. K., Kirkeby, A., Mitra, S., Kosalai, S. T., Traxler, L., Hertwig, F., Wernig-Zorc, S., Miranda, C., Deland, L., Volland, R., Bartenhagen, C., Bartsch, D., Bandaru, S., Engesser, A., Subhash, S., Martinsson, T., Carén, H., Akyürek, L. M., Kurian, L., Kanduri, M., Huarte, M., Kogner, P., Fischer, M., & Kanduri, C. (2018). Sense-antisense lncRNA pair encoded by locus 6p22.3 determines neuroblastoma susceptibility via the USP36-CHD7-SOX9 regulatory axis. Cancer Cell, 33(3), 417–434 e417. https://​doi.​org/​10.​1016/​j.​ccell.​2018.​01.​020.CrossRefPubMed
60.
go back to reference Capasso, M., Devoto, M., Hou, C., Asgharzadeh, S., Glessner, J. T., Attiyeh, E. F., Mosse, Y. P., Kim, C., Diskin, S. J., Cole, K. A., Bosse, K., Diamond, M., Laudenslager, M., Winter, C., Bradfield, J. P., Scott, R. H., Jagannathan, J., Garris, M., McConville, C., London, W. B., Seeger, R. C., Grant, S. F., Li, H., Rahman, N., Rappaport, E., Hakonarson, H., & Maris, J. M. (2009). Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genetics, 41(6), 718–723. https://doi.org/10.1038/ng.374.CrossRefPubMedPubMedCentral Capasso, M., Devoto, M., Hou, C., Asgharzadeh, S., Glessner, J. T., Attiyeh, E. F., Mosse, Y. P., Kim, C., Diskin, S. J., Cole, K. A., Bosse, K., Diamond, M., Laudenslager, M., Winter, C., Bradfield, J. P., Scott, R. H., Jagannathan, J., Garris, M., McConville, C., London, W. B., Seeger, R. C., Grant, S. F., Li, H., Rahman, N., Rappaport, E., Hakonarson, H., & Maris, J. M. (2009). Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genetics, 41(6), 718–723. https://​doi.​org/​10.​1038/​ng.​374.CrossRefPubMedPubMedCentral
63.
go back to reference Cimmino, F., Avitabile, M., Diskin, S. J., Vaksman, Z., Pignataro, P., Formicola, D., Cardinale, A., Testori, A., Koster, J., de Torres, C., Devoto, M., Maris, J. M., Iolascon, A., & Capasso, M. (2018). Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor. International Journal of Cancer, 143(11), 2828–2837. https://doi.org/10.1002/ijc.31822.CrossRefPubMedPubMedCentral Cimmino, F., Avitabile, M., Diskin, S. J., Vaksman, Z., Pignataro, P., Formicola, D., Cardinale, A., Testori, A., Koster, J., de Torres, C., Devoto, M., Maris, J. M., Iolascon, A., & Capasso, M. (2018). Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor. International Journal of Cancer, 143(11), 2828–2837. https://​doi.​org/​10.​1002/​ijc.​31822.CrossRefPubMedPubMedCentral
64.
go back to reference Oldridge, D. A., Truong, B., Russ, D., DuBois, S. G., Vaksman, Z., Mosse, Y. P., et al. (2019). Differences in genomic profiles and outcomes between thoracic and adrenal neuroblastoma. Journal of the National Cancer Institute. https://doi.org/10.1093/jnci/djz027. Oldridge, D. A., Truong, B., Russ, D., DuBois, S. G., Vaksman, Z., Mosse, Y. P., et al. (2019). Differences in genomic profiles and outcomes between thoracic and adrenal neuroblastoma. Journal of the National Cancer Institute. https://​doi.​org/​10.​1093/​jnci/​djz027.
66.
go back to reference Bosse, K. R., Diskin, S. J., Cole, K. A., Wood, A. C., Schnepp, R. W., Norris, G., Nguyen le, B., Jagannathan, J., Laquaglia, M., Winter, C., Diamond, M., Hou, C., Attiyeh, E. F., Mosse, Y. P., Pineros, V., Dizin, E., Zhang, Y., Asgharzadeh, S., Seeger, R. C., Capasso, M., Pawel, B. R., Devoto, M., Hakonarson, H., Rappaport, E. F., Irminger-Finger, I., & Maris, J. M. (2012). Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Research, 72(8), 2068–2078. https://doi.org/10.1158/0008-5472.CAN-11-3703.CrossRefPubMedPubMedCentral Bosse, K. R., Diskin, S. J., Cole, K. A., Wood, A. C., Schnepp, R. W., Norris, G., Nguyen le, B., Jagannathan, J., Laquaglia, M., Winter, C., Diamond, M., Hou, C., Attiyeh, E. F., Mosse, Y. P., Pineros, V., Dizin, E., Zhang, Y., Asgharzadeh, S., Seeger, R. C., Capasso, M., Pawel, B. R., Devoto, M., Hakonarson, H., Rappaport, E. F., Irminger-Finger, I., & Maris, J. M. (2012). Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Research, 72(8), 2068–2078. https://​doi.​org/​10.​1158/​0008-5472.​CAN-11-3703.CrossRefPubMedPubMedCentral
67.
go back to reference Wang, K., Diskin, S. J., Zhang, H., Attiyeh, E. F., Winter, C., Hou, C., Schnepp, R. W., Diamond, M., Bosse, K., Mayes, P. A., Glessner, J., Kim, C., Frackelton, E., Garris, M., Wang, Q., Glaberson, W., Chiavacci, R., Nguyen, L., Jagannathan, J., Saeki, N., Sasaki, H., Grant, S. F., Iolascon, A., Mosse, Y. P., Cole, K. A., Li, H., Devoto, M., McGrady, P., London, W. B., Capasso, M., Rahman, N., Hakonarson, H., & Maris, J. M. (2011). Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature, 469(7329), 216–220. https://doi.org/10.1038/nature09609.CrossRefPubMed Wang, K., Diskin, S. J., Zhang, H., Attiyeh, E. F., Winter, C., Hou, C., Schnepp, R. W., Diamond, M., Bosse, K., Mayes, P. A., Glessner, J., Kim, C., Frackelton, E., Garris, M., Wang, Q., Glaberson, W., Chiavacci, R., Nguyen, L., Jagannathan, J., Saeki, N., Sasaki, H., Grant, S. F., Iolascon, A., Mosse, Y. P., Cole, K. A., Li, H., Devoto, M., McGrady, P., London, W. B., Capasso, M., Rahman, N., Hakonarson, H., & Maris, J. M. (2011). Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature, 469(7329), 216–220. https://​doi.​org/​10.​1038/​nature09609.CrossRefPubMed
70.
go back to reference Zhu, S., Zhang, X., Weichert-Leahey, N., Dong, Z., Zhang, C., Lopez, G., Tao, T., He, S., Wood, A. C., Oldridge, D., Ung, C. Y., van Ree, J., Khan, A., Salazar, B. M., Lummertz da Rocha, E., Zimmerman, M. W., Guo, F., Cao, H., Hou, X., Weroha, S. J., Perez-Atayde, A. R., Neuberg, D. S., Meves, A., McNiven, M., van Deursen, J., Li, H., Maris, J. M., & Look, A. T. (2017). LMO1 synergizes with MYCN to promote neuroblastoma initiation and metastasis. Cancer Cell, 32(3), 310–323 e315. https://doi.org/10.1016/j.ccell.2017.08.002.CrossRefPubMedPubMedCentral Zhu, S., Zhang, X., Weichert-Leahey, N., Dong, Z., Zhang, C., Lopez, G., Tao, T., He, S., Wood, A. C., Oldridge, D., Ung, C. Y., van Ree, J., Khan, A., Salazar, B. M., Lummertz da Rocha, E., Zimmerman, M. W., Guo, F., Cao, H., Hou, X., Weroha, S. J., Perez-Atayde, A. R., Neuberg, D. S., Meves, A., McNiven, M., van Deursen, J., Li, H., Maris, J. M., & Look, A. T. (2017). LMO1 synergizes with MYCN to promote neuroblastoma initiation and metastasis. Cancer Cell, 32(3), 310–323 e315. https://​doi.​org/​10.​1016/​j.​ccell.​2017.​08.​002.CrossRefPubMedPubMedCentral
71.
go back to reference Oldridge, D. A., Wood, A. C., Weichert-Leahey, N., Crimmins, I., Sussman, R., Winter, C., McDaniel, L., Diamond, M., Hart, L. S., Zhu, S., Durbin, A. D., Abraham, B. J., Anders, L., Tian, L., Zhang, S., Wei, J. S., Khan, J., Bramlett, K., Rahman, N., Capasso, M., Iolascon, A., Gerhard, D. S., Guidry Auvil, J. M., Young, R. A., Hakonarson, H., Diskin, S. J., Look, A. T., & Maris, J. M. (2015). Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature, 528(7582), 418–421. https://doi.org/10.1038/nature15540.CrossRefPubMedPubMedCentral Oldridge, D. A., Wood, A. C., Weichert-Leahey, N., Crimmins, I., Sussman, R., Winter, C., McDaniel, L., Diamond, M., Hart, L. S., Zhu, S., Durbin, A. D., Abraham, B. J., Anders, L., Tian, L., Zhang, S., Wei, J. S., Khan, J., Bramlett, K., Rahman, N., Capasso, M., Iolascon, A., Gerhard, D. S., Guidry Auvil, J. M., Young, R. A., Hakonarson, H., Diskin, S. J., Look, A. T., & Maris, J. M. (2015). Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature, 528(7582), 418–421. https://​doi.​org/​10.​1038/​nature15540.CrossRefPubMedPubMedCentral
72.
go back to reference Diskin, S. J., Capasso, M., Schnepp, R. W., Cole, K. A., Attiyeh, E. F., Hou, C., Diamond, M., Carpenter, E. L., Winter, C., Lee, H., Jagannathan, J., Latorre, V., Iolascon, A., Hakonarson, H., Devoto, M., & Maris, J. M. (2012). Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature Genetics, 44(10), 1126–1130. https://doi.org/10.1038/ng.2387.CrossRefPubMedPubMedCentral Diskin, S. J., Capasso, M., Schnepp, R. W., Cole, K. A., Attiyeh, E. F., Hou, C., Diamond, M., Carpenter, E. L., Winter, C., Lee, H., Jagannathan, J., Latorre, V., Iolascon, A., Hakonarson, H., Devoto, M., & Maris, J. M. (2012). Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature Genetics, 44(10), 1126–1130. https://​doi.​org/​10.​1038/​ng.​2387.CrossRefPubMedPubMedCentral
74.
go back to reference Powers, J. T., Tsanov, K. M., Pearson, D. S., Roels, F., Spina, C. S., Ebright, R., Seligson, M., de Soysa, Y., Cahan, P., Theißen, J., Tu, H. C., Han, A., Kurek, K. C., LaPier, G., Osborne, J. K., Ross, S. J., Cesana, M., Collins, J. J., Berthold, F., & Daley, G. Q. (2016). Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. Nature, 535(7611), 246–251. https://doi.org/10.1038/nature18632.CrossRefPubMedPubMedCentral Powers, J. T., Tsanov, K. M., Pearson, D. S., Roels, F., Spina, C. S., Ebright, R., Seligson, M., de Soysa, Y., Cahan, P., Theißen, J., Tu, H. C., Han, A., Kurek, K. C., LaPier, G., Osborne, J. K., Ross, S. J., Cesana, M., Collins, J. J., Berthold, F., & Daley, G. Q. (2016). Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. Nature, 535(7611), 246–251. https://​doi.​org/​10.​1038/​nature18632.CrossRefPubMedPubMedCentral
77.
go back to reference Corallo, D., Donadon, M., Pantile, M., Sidarovich, V., Cocchi, S., Ori, M., de Sarlo, M., Candiani, S., Frasson, C., Distel, M., Quattrone, A., Zanon, C., Basso, G., Tonini, G. P., & Aveic, S. (2019). LIN28B increases neural crest cell migration and leads to transformation of trunk sympathoadrenal precursors. Cell Death and Differentiation, 1–18. https://doi.org/10.1038/s41418-019-0425-3. Corallo, D., Donadon, M., Pantile, M., Sidarovich, V., Cocchi, S., Ori, M., de Sarlo, M., Candiani, S., Frasson, C., Distel, M., Quattrone, A., Zanon, C., Basso, G., Tonini, G. P., & Aveic, S. (2019). LIN28B increases neural crest cell migration and leads to transformation of trunk sympathoadrenal precursors. Cell Death and Differentiation, 1–18. https://​doi.​org/​10.​1038/​s41418-019-0425-3.
83.
go back to reference Gamazon, E. R., Pinto, N., Konkashbaev, A., Im, H. K., Diskin, S. J., London, W. B., Maris, J. M., Dolan, M. E., Cox, N. J., & Cohn, S. L. (2013). Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. Journal of the National Cancer Institute, 105(4), 302–309. https://doi.org/10.1093/jnci/djs503.CrossRefPubMed Gamazon, E. R., Pinto, N., Konkashbaev, A., Im, H. K., Diskin, S. J., London, W. B., Maris, J. M., Dolan, M. E., Cox, N. J., & Cohn, S. L. (2013). Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. Journal of the National Cancer Institute, 105(4), 302–309. https://​doi.​org/​10.​1093/​jnci/​djs503.CrossRefPubMed
87.
go back to reference Hungate, E. A., Applebaum, M. A., Skol, A. D., Vaksman, Z., Diamond, M., McDaniel, L., Volchenboum, S. L., Stranger, B. E., Maris, J. M., Diskin, S. J., Onel, K., & Cohn, S. L. (2017). Evaluation of genetic predisposition for MYCN-amplified neuroblastoma. Journal of the National Cancer Institute, 109(10). https://doi.org/10.1093/jnci/djx093. Hungate, E. A., Applebaum, M. A., Skol, A. D., Vaksman, Z., Diamond, M., McDaniel, L., Volchenboum, S. L., Stranger, B. E., Maris, J. M., Diskin, S. J., Onel, K., & Cohn, S. L. (2017). Evaluation of genetic predisposition for MYCN-amplified neuroblastoma. Journal of the National Cancer Institute, 109(10). https://​doi.​org/​10.​1093/​jnci/​djx093.
88.
go back to reference Testori, A., Lasorsa, V. A., Cimmino, F., Cantalupo, S., Cardinale, A., Avitabile, M., Limongelli, G., Russo, M. G., Diskin, S., Maris, J., Devoto, M., Keavney, B., Cordell, H. J., Iolascon, A., & Capasso, M. (2019). Exploring shared susceptibility between two neural crest cells originating conditions: neuroblastoma and congenital heart disease. Genes (Basel), 10(9). https://doi.org/10.3390/genes10090663. Testori, A., Lasorsa, V. A., Cimmino, F., Cantalupo, S., Cardinale, A., Avitabile, M., Limongelli, G., Russo, M. G., Diskin, S., Maris, J., Devoto, M., Keavney, B., Cordell, H. J., Iolascon, A., & Capasso, M. (2019). Exploring shared susceptibility between two neural crest cells originating conditions: neuroblastoma and congenital heart disease. Genes (Basel), 10(9). https://​doi.​org/​10.​3390/​genes10090663.
89.
go back to reference Avitabile, M., Succoio, M., Testori, A., Cardinale, A., Vaksman, Z., Lasorsa, V. A., et al. (2019). Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene. Carcinogenesis. https://doi.org/10.1093/carcin/bgz153. Avitabile, M., Succoio, M., Testori, A., Cardinale, A., Vaksman, Z., Lasorsa, V. A., et al. (2019). Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene. Carcinogenesis. https://​doi.​org/​10.​1093/​carcin/​bgz153.
91.
96.
go back to reference Schwab, M., Alitalo, K., Klempnauer, K. H., Varmus, H. E., Bishop, J. M., Gilbert, F., et al. (1983). Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature, 305(5931), 245–248. https://doi.org/10.1038/305245a0.CrossRefPubMed Schwab, M., Alitalo, K., Klempnauer, K. H., Varmus, H. E., Bishop, J. M., Gilbert, F., et al. (1983). Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature, 305(5931), 245–248. https://​doi.​org/​10.​1038/​305245a0.CrossRefPubMed
97.
go back to reference Brodeur, G. M., Green, A. A., Hayes, F. A., Williams, K. J., Williams, D. L., & Tsiatis, A. A. (1981). Cytogenetic features of human neuroblastomas and cell lines. Cancer Research, 41(11 Pt 1), 4678–4686.PubMed Brodeur, G. M., Green, A. A., Hayes, F. A., Williams, K. J., Williams, D. L., & Tsiatis, A. A. (1981). Cytogenetic features of human neuroblastomas and cell lines. Cancer Research, 41(11 Pt 1), 4678–4686.PubMed
102.
go back to reference Schleiermacher, G., Mosseri, V., London, W. B., Maris, J. M., Brodeur, G. M., Attiyeh, E., Haber, M., Khan, J., Nakagawara, A., Speleman, F., Noguera, R., Tonini, G. P., Fischer, M., Ambros, I., Monclair, T., Matthay, K. K., Ambros, P., Cohn, S. L., & Pearson, A. D. (2012). Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project. British Journal of Cancer, 107(8), 1418–1422. https://doi.org/10.1038/bjc.2012.375.CrossRefPubMedPubMedCentral Schleiermacher, G., Mosseri, V., London, W. B., Maris, J. M., Brodeur, G. M., Attiyeh, E., Haber, M., Khan, J., Nakagawara, A., Speleman, F., Noguera, R., Tonini, G. P., Fischer, M., Ambros, I., Monclair, T., Matthay, K. K., Ambros, P., Cohn, S. L., & Pearson, A. D. (2012). Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project. British Journal of Cancer, 107(8), 1418–1422. https://​doi.​org/​10.​1038/​bjc.​2012.​375.CrossRefPubMedPubMedCentral
106.
go back to reference Coco, S., Theissen, J., Scaruffi, P., Stigliani, S., Moretti, S., Oberthuer, A., Valdora, F., Fischer, M., Gallo, F., Hero, B., Bonassi, S., Berthold, F., & Tonini, G. P. (2012). Age-dependent accumulation of genomic aberrations and deregulation of cell cycle and telomerase genes in metastatic neuroblastoma. International Journal of Cancer, 131(7), 1591–1600. https://doi.org/10.1002/ijc.27432.CrossRefPubMed Coco, S., Theissen, J., Scaruffi, P., Stigliani, S., Moretti, S., Oberthuer, A., Valdora, F., Fischer, M., Gallo, F., Hero, B., Bonassi, S., Berthold, F., & Tonini, G. P. (2012). Age-dependent accumulation of genomic aberrations and deregulation of cell cycle and telomerase genes in metastatic neuroblastoma. International Journal of Cancer, 131(7), 1591–1600. https://​doi.​org/​10.​1002/​ijc.​27432.CrossRefPubMed
109.
go back to reference Janoueix-Lerosey, I., Schleiermacher, G., Michels, E., Mosseri, V., Ribeiro, A., Lequin, D., Vermeulen, J., Couturier, J., Peuchmaur, M., Valent, A., Plantaz, D., Rubie, H., Valteau-Couanet, D., Thomas, C., Combaret, V., Rousseau, R., Eggert, A., Michon, J., Speleman, F., & Delattre, O. (2009). Overall genomic pattern is a predictor of outcome in neuroblastoma. Journal of Clinical Oncology, 27(7), 1026–1033. https://doi.org/10.1200/JCO.2008.16.0630.CrossRefPubMed Janoueix-Lerosey, I., Schleiermacher, G., Michels, E., Mosseri, V., Ribeiro, A., Lequin, D., Vermeulen, J., Couturier, J., Peuchmaur, M., Valent, A., Plantaz, D., Rubie, H., Valteau-Couanet, D., Thomas, C., Combaret, V., Rousseau, R., Eggert, A., Michon, J., Speleman, F., & Delattre, O. (2009). Overall genomic pattern is a predictor of outcome in neuroblastoma. Journal of Clinical Oncology, 27(7), 1026–1033. https://​doi.​org/​10.​1200/​JCO.​2008.​16.​0630.CrossRefPubMed
Metadata
Title
Genetic predisposition and chromosome instability in neuroblastoma
Authors
Gian Paolo Tonini
Mario Capasso
Publication date
01-03-2020
Publisher
Springer US
Published in
Cancer and Metastasis Reviews / Issue 1/2020
Print ISSN: 0167-7659
Electronic ISSN: 1573-7233
DOI
https://doi.org/10.1007/s10555-020-09843-4

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