Scientific Online Resource System

Varna Medical Forum

Genetic markers in neuroblastoma

Georgi Nikolaev Valchev

Abstract

Neuroblastoma is one of the most frequent solid pediatric tumors. Its clinical course and response to treatment are both markedly heterogenic. Such a varied spectrum demands genomic hallmarks to be established for the sake of identifying the molecular mechanisms, which initiate the tumor and lead to malignant progression. The contemporary biological and genetic revelations regarding neuroblastoma are a crucial part of determining the diagnosis, stratifying the risk, and developing new treatment strategies. Such systems of risk assessment appraise clinical, histopathological, and genetic variables. Among them are classifiers of gene expression, changes in the number of copies and somatic mutation models, chromosomal aberrations. Different studies suggest new prognostic markers, including gene signatures, telomerase activity, as well as epigenetic markers. Contemporary studies have contributed the means of molecular characterization of blood and tumor samples, among which high-yield technologies for analysis of DNA, microRNA, and other non-coding RNAs.

Keywords

neuroblastoma, chromosomal abberations, MYCN, ALK, Trk, miRNA

Full Text


References

Ahmed AA, Zhang L, Reddivalla N, Hetherington M. Neuroblastoma in children: Update on clinicopathologic and genetic prognostic factors. Pediatr Hematol Oncol. 2017 Apr;34(3):165-185.

Arita T, Ichikawa D, Konishi H, Komatsu S, Shiozaki A, Shoda K, et al. Circulating long non-coding RNAs in plasma of patients with gastric cancer. Anticancer Res. 2013;33:3185–3193

Bagatell R., Cohn S.L. Genetic discoveries and treatment advances in neuroblastoma. Curr. Opin. Pediatr. 2016;28:19–25.

Barsyte-Lovejoy D1, Lau SK, Boutros PC, Khosravi F, Jurisica I, Andrulis IL, et al.The c-Myc oncogene directly induces the H19 noncoding RNA by allele-specific binding to potentiate tumorigenesis. Cancer Res. 2006;66:5330–5337.

Bresler SC, Weiser DA, Huwe PJ, Park JH, Krytska K, Ryles H, et al. ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma. Cancer Cell, 2014, 26 (5), 682–694.

Brodeur GM, Bagatell R. Mechanisms of neuroblastoma regression. Nat Rev Clin Oncol. 2014;11:704–13.

Cao Y, Jin Y, Yu J, Wang J, Yan J, Zhao Q. Research progress of neuroblastoma related gene variations. Oncotarget. 2017;8(11):18444-18455.

Castel V, Grau E, Noguera R, Martínez F.Molecular biology of neuroblastoma.Clin Transl Oncol. 2007 Aug;9(8):478-83.

Combaret V, Iacono I, Bellini A, Bréjon S, Bernard V, Marabelle A, et al. Detection of tumor ALK status in neuroblastoma patients using peripheral blood. Cancer Med. 2015 Apr;4(4):540-50.

De Preter K, Mestdagh P, Vermeulen J, Zeka F, Naranjo A, Bray I, et al. miRNA expression profiling enables risk stratification in archived and fresh neuroblastoma tumor samples. Clin. Cancer Res, 2011; 17: 7684–7692.

Domingo-Fernandez R, Watters K, Piskareva O, Stallings RL, Bray I. The role of genetic and epigenetic alterations in neuroblastoma disease pathogenesis. Pediatr Surg Int. 2013 Feb;29(2):101-19.

Dumba M, Jawad N, McHugh K. Neuroblastoma and nephroblastoma: a radiological review.Cancer Imaging. 2015, Apr 8;15:5

Esposito MR, Aveic S, Seydel A, Tonini GP. Neuroblastoma treatment in the post-genomic era. J Biomed Sci. 2017 Feb 8;24(1):14

Fischer M, Spitz R, Oberthür A, Westermann F, Berthold F.Risk estimation of neuroblastoma patients using molecular markers.Klin Padiatr. 2008 May-Jun;220(3):137-46.

Galli S, Naranjo A, Van Ryn C, Tilan JU, Trinh E, Yang C, et al. Neuropeptide Y as a Biomarker and Therapeutic Target for Neuroblastoma. Am J Pathol. 2016 Nov;186(11):3040-3053.

Gil J, Peters G. Regulation of the INK4b-ARF-INK4a tumour suppressor locus: all for one or one for all. Nat Rev Mol Cell Biol. 2006;7:667–677.

Goldschneider D, Mehlen P. Dependence receptors: a new paradigm in cell signaling and cancer therapy. Oncogene. 2010;29:1865–1882.

Gustafson WC, Weiss WA. Myc proteins as therapeutic targets. Oncogene, 2010;29(9):1249–59.

Hallberg B, Palmer RH. The role of the ALK receptor in cancer biology. Ann Oncol. 2016 Sep;27 Suppl 3:iii4-iii15.

Higashi M, Sakai K, Fumino S, Aoi S, Furukawa T, Tajiri T.The roles played by the MYCN, Trk, and ALK genes in neuroblastoma and neural development.Surg Today. 2019 Sep;49(9):721-727.

Ho R, Eggert A, Hishiki T, Minturn JE, Ikegaki N, Foster P, et al. Resistance to chemotherapy mediated by TrkB in neuroblastomas. Cancer Res. 2002;62:6462–6466.

Hsieh AL, Dang CV.MYC, Metabolic Synthetic Lethality, and Cancer.Recent Results Cancer Res. 2016;207:73-91.

Huang M, Weiss WA. Neuroblastoma and MYCN. Cold Spring Harb Perspect Med, 2013 Oct 1;3(10):a014415.

Iehara T, Hosoi H, Akazawa K, Matsumoto Y, Yamamoto K, Suita S, et al. MYCN gene amplification is a powerful prognostic factor even in infantile neuroblastoma detected by mass screening. Brit J Cancer. 2006;94(10):1510–1515.

Jeison M, Ash S, Halevy-Berko G, Mardoukh J, Luria D, Avigad S, et al. I. 2p24 Gain region harboring MYCN gene compared with MYCN amplified and non-amplified neuroblastoma. Am J Pathol, 2010;176(6):2616–25.

Lamant L, Pulford K, Bischof D, Morris SW, Mason DY, Delsol G, Mariamé B.. Expression of the ALK tyrosine kinase gene in neuroblastoma. Am J Pathol, 2000; 156:1711-21.

Li D, Wang X, Mei H, Fang E, Ye L, Song H, et al. Long noncoding RNA pancEts-1 promotes neuroblastoma progression through hnRNPK-mediated β-catenin stabilization. Cancer Res, 2018 Jan 8. pii: canres.2295.2017.

Louis CU, Shohet JM. Neuroblastoma: Molecular Pathogenesis and Therapy. Annu Rev Med, 2015; 66: 49–63.

Luksch R, Castellani M, Collini P, De Bernardi B, Conte M, Gambini C, et al. Neuroblastoma (Peripheral neuroblastic tumours), Crit Rev Oncol Hematol, 2016 Nov;107:163-181.

Mandriota SJ, Valentijn LJ, Lesne L, Betts DR, Marino D, Boudal-Khoshbeen M, et al. Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism. Oncotarget, 2015 Jul 30;6(21):18558-76.

Maris JM, Hogarty MD, Bagatell R, Cohn SL. Neuroblastoma. Lancet, 2007;369:2106–20.

Matthay KK, George RE, Yu AL. Promising therapeutic targets in neuroblastoma. Clin Cancer Res, 2012;18:2740–2753

Matthay, KK, Maris, JM, Schleiermacher, G, Nakagawara, A, Mackall, CL, Diller, L, Weiss WA. Neuroblastoma. Nat Rev Dis Primers. 2016; 2: 16078.

Mlakar V, Jurkovic Mlakar S, Lopez G, Maris JM, Ansari M, Gumy-Pause F. 11q deletion in neuroblastoma: a review of biological and clinical implications. Mol Cancer, 2017 Jun 29;16(1):114.

Moreau LA, McGrady P, London WB. Does MYCN amplification manifested as homogeneously staining regions at diagnosis predict a worse outcome in children with neuroblastoma? A children’s oncology group study. Clin Cancer Res, 2006;12(19):5693–7.

Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, et al. Identification of ALK as a major familial neuroblastoma tredisposition gene. Nature 2008; 455:930-5.

Newman EA, Nuchtern JG. Recent biologic and genetic advances in neuroblastoma: Implications for diagnostic, risk stratification, and treatment strategies. Semin Pediatr Surg, 2016 Oct;25(5):257-264.

Ohali A, Avigad S, Ash S, Goshen Y, Luria D, Feinmesser M, et al. Telomere length is a prognostic factor in neuroblastoma. Cancer, 2006;107:1391–1399.

Onitake Y, Hiyama E, Kamei N, Yamaoka H, Sueda T, Hiyama K. Telomere biology in neuroblastoma: telomere binding proteins and alternative strengthening of telomeres. J Pediatr Surg, 2009 Dec;44(12):2258-66.

Ora I, Eggert A. Progress in treatment and risk stratification of neuroblastoma: impact on future clinical and basic research. Semin Cancer Bio, 2011 Oct;21(4):217-28.

Osajima-Hakomori Y, Miyake I, Ohira M, Nakagawara A, Nakagawa A, Sakai R. Biological role of anaplastic lymphoma kinase in neuroblastoma. Am J Pathol, 2005 Jul;167(1):213-22

Padovan-Merhar OM, Raman P, Ostrovnaya I, Kalletla K, Rubnitz KR, Sanford EM, et al. Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome. PLoS Genet, 2016 Dec 20;12(12):e1006501.

Pandey GK, Mitra S, Subhash S, Hertwig F, Kanduri M, Mishra K, et al. The Risk-Associated Long Noncoding RNA NBAT-1 Controls Neuroblastoma Progression by Regulating Cell Proliferation and Neuronal Differentiation. Cancer Cell, 2014;26:722–37.

Pang QM, Li K, Ma L, Sun RP. Clinical research on neuroblastoma based on serum lactate dehydrogenase. J Biol Regul Homeost Agents, 2015 Jan-Mar;29(1):131-4.

Prensner JR, Chinnaiyan AM. The emergence of lncRNAs in cancer biology. Cancer Discov. 2011;1:391–407.

Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, et al. The genetic landscape ofhigh-risk neuroblastoma. Nat. Genet, 2013 45 (3), 279–284.

Rosswog C, Schmidt R, Oberthuer A, Juraeva D, Brors B, Engesser A, et al.Molecular Classification Substitutes for the Prognostic Variables Stage, Age, and MYCN Status in Neuroblastoma Risk Assessment.Neoplasia. 2017 Dec;19(12):982-990.

Schwab M, Alitalo K, Klempnauer KH, Varmus HE, Bishop JM, Gilbert F, et al. Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature, 1983, 305, 245–248.

Sebire NJ. Histopathological features of pretreatment neuroblastoma are of limited clinical significance following adjustment for clinical and biological marker status. Med Hypotheses, 2006; 66(6):1078-81.

Spitz R, Hero B, Simon T. Berthold F. Loss in chromosome11q identifies tumors with increased risk for metastatic relapses in localized and 4S neuroblastoma. Clin Cancer Res, 2006;12(11):3368–7.

Sridhar S, Al-Moallem B, Kamal H, Terrile M, Stallings RL. New insights into the genetics of neuroblastoma. Mol Diagn Ther, 2013 Apr;17(2):63-9.

Stine ZE, Walton ZE, Altman BJ, Hsieh AL, Dang CV.MYC, Metabolism, and Cancer.Cancer Discov. 2015 Oct;5(10):1024-39.

Suo C, Deng W, Vu TN, Li , Shi L, Pawitan Y.Accumulation of potential driver genes with genomic alterations predicts survival of high-risk neuroblastoma patients.Biol Direct. 2018 Jul 16;13(1):14.

Thiele CJ, Li Z, McKee AE. On Trk—the TrkB signal transduction pathway is an increasingly important target in cancer biology. Clin Cancer Res, 2009;15:5962–5967.

Tonini GP, Romani M.Genetic and epigenetic alterations in neuroblastoma.Cancer Lett. 2003 Jul 18;197(1-2):69-73.

Tonini GP. Growth, progression and chromosome instability of Neuroblastoma: a new scenario of tumorigenesis? BMC Cancer. 2017 Jan 5;17(1):20.

Umapathy G, Mendoza-Garcia P, Hallberg B, Palmer RH.Targeting anaplastic lymphoma kinase in neuroblastoma.APMIS. 2019 May;127(5):288-302.

Vermeulen J, De Preter K, Mestdagh P, Laureys G, Speleman F, Vandesompele J. Predicting outcomes for children with neuroblastoma. Discov Med, 2010 Jul;10(50):29-36.

Wang J, Zhang J, Zheng H, Li J, Liu D, Li H, et al. Neutral evolution of ‘non-coding’ complementary DNAs. Nature. 2004;431:1-2.

Yang H, Yang M, Guan H, Liu Z, Zhao S, Takeuchi S, Yanagisawa D, Tooyama I. Mitochondrial ferritin in neurodegenerative diseases. Neurosci Res, 2013 Sep-Oct;77(1-2):1-7.

Zhong ZY, Shi BJ, Zhou H, Wang WB.CD133 expression and MYCN amplification induce chemoresistance and reduce average survival time in pediatric neuroblastoma.J Int Med Res. 2018 Mar;46(3):1209-1220.


Refbacks

Font Size


|