Онкопедиатрия. 2016; 3: 277-287
ГЕНЕТИЧЕСКАЯ ПРЕДРАСПОЛОЖЕННОСТЬ К НЕЙРОБЛАСТОМЕ У ДЕТЕЙ: СОБСТВЕННЫЕ ДАННЫЕ И ОБЗОР ЛИТЕРАТУРЫ
https://doi.org/10.15690/onco.v3i4.1631Аннотация
На большой когорте пациентов с опухолями симпатической нервной системы, получавших этапное лечение в ФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачёва», проведен анализ частоты встречаемости семейных форм заболевания и генетических синдромов, ассоциированных с повышенной частотой развития данных опухолей. Показано, что в когорте пациентов с нейробластомой частота семейных форм заболевания составила 0,5%, генетических синдромов — 1,5%. Представлен анализ литературных данных, посвященных генетической предрасположенности при нейробластоме с описанием молекулярно-генетических механизмов, лежащих в основе данной ассоциации, а также современным представлением о генетических основах развития спорадических случаев заболевания.
Список литературы
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14. Kushner BH, Gilbert F, Helson L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer. 1986;57(9):1887–93.
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29. Jäger N, Schlesner M, Jones DT, Raffel S, Mallm JP, Junge KM et al. Hypermutation of the inactive X chromosome is a frequent event in cancer. Cell. 2013;155(3):567–81. DOI: 10.1016/j. cell.2013.09.042.
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32. Eleveld TF, Oldridge DA, Bernard V, Koster J, Daage LC, Diskin SJ, et al. Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. Nat Genet. 2015;47(8):864–71. DOI: 10.1038/ng.3333.
33. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011;157C(2):83–9. DOI: 10.1002/ ajmg.c.30300.
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40. Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genet. 2009;41:718–723. DOI: 10.1038/ng.374.
41. Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, et al. Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature. 2011;469:216–220. DOI: 10.1038/ nature09609.
42. Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, et al. Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature. 2015;528:418–421. DOI: 10.1038/nature15540.
43. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 2009;459:987–991. DOI: 10.1038/ nature08035.
44. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2015. doi: 10.1038/gim.2015.78. DOI: 10.1038/ gim.2015.78.
45. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466–71. DOI: 10.1038/ng.279.
46. Pakakasama S, Tomlinson GE. Genetic predisposition and screening in pediatric cancer. Pediatr Clin North Am. 2002;49(6):1393–413.
47. Качанов ДЮ, Абдуллаев РТ, Шаманская ТВ, Инюшкина ЕВ, Добреньков КВ, Савкова РФ, Варфоломеева СР. Генетические синдромы у детей со злокачественными новообразованиями. Онкогематология. 2010;3:29–35.
Oncopediatrics. 2016; 3: 277-287
GENETIC PREDISPOSITION TO NEUROBLASTOMA IN CHILDREN: OWN DATA AND LITERATURE REVIEW
https://doi.org/10.15690/onco.v3i4.1631Abstract
The current study analyses the frequency of the positive family history and cancer predisposition syndromes in large cohort of patients with sympathetic nervous system tumors treated in Federal Scientific and Clinical Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev. Positive family history and cancer predisposition genetic syndromes were observed in 0.5% and 1.5% cases of neuroblastoma, consequently. The article contains the review of the current literature devoted to mechanisms of genetic predisposition to neuroblastoma including cancer predisposition syndromes and genetics of sporadic cases.
References
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2. Goodman MS, Gurney JG, Smith MA, Olshan AF. Sympathetic nervous system tumors. In Ries LAG, Smith MA, Gurney JG, et al. (eds). Cancer Incidence and Survival among Children and Adolescents: United States SEER Program 1975–1995, National Cancer Institute, SEER Program. NIH Pub. No. 99–4649. Bethesda, MD, 1999. S. 65–72.
3. Narod SA, Stiller C, Lenoir GM. An estimate of the heritable fraction of childhood cancer. Br J Cancer. 1991;63(6):993–9.
4. Claviez A, Lakomek M, Ritter J, Suttorp M, Kremens B, Dickerhoff R, et al. Low occurrence of familial neuroblastomas and ganglioneuromas in five consecutive GPOH neuroblastoma treatment studies. Eur J Cancer. 2004;40(18):2760–5.
5. Steliarova-Foucher E, Stiller C, Lacour B, Kaatsch P. International Classification of Childhood Cancer, Third Edition. Cancer. 2005;103:1457–1467. DOI: 10.1002/cncr.20910.
6. Fritz A, Percy C, Jack A, et al. International Classification of Diseases for Oncology. 3rd ed. Geneva: World Health Organization, 2000. P. 43–104.
7. Brodeur GM, Pritchard J, Berthold F, Carlsen NL, Castel V, Castelberry RP, et al. Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. J Clin Oncol. 1993;11(8):1466–77. DOI: 10.1200/ jco.1993.11.8.1466.
8. NB2004 protocol. URL: http://www.kinderkrebsinfo. de/dlja_specialistov/protokoly_gpoh/pohkinderkrebsinfotherapiestudien/nb2004/index_rus.html [cited 2016 March 15].
9. The International Fetal and Newborn Growth Consortium for the 21st Century, or INTERGROWTH21st. URL: https://intergrowth21.tghn.org/ [cited 2016 May 15].
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11. Bosse KR, Maris JM. Advances in the translational genomics of neuroblastoma: From improving risk stratification and revealing novel biology to identifying actionable genomic alterations. Cancer. 2016;122(1):20–33. DOI: 10.1002/cncr.29706.
12. Dodge HJ, Benner MC. Neuroblastoma of the adrenal medulla in siblings. Rocky Mt. Med J. 1945;42:35–38.
13. Knudson AG Jr, Strong LC. Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet. 1972;24(5):514–32.
14. Kushner BH, Gilbert F, Helson L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer. 1986;57(9):1887–93.
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17. Bolande RP. Neurocristopathy: its growth and development in 20 years. Pediatr Pathol Lab Med. 1997;17(1):1–25.
18. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet. 2004;74(4):761– 4. DOI: 10.1086/383253.
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20. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. ATS Congenital Central Hypoventilation Syndrome Subcommittee. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010;181(6):626–44. DOI: 10.1164/rccm.2008071069ST.
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22. Chen Y, Takita J, Choi YL, Kato M, Ohira M, Sanada M, et al. Oncogenic mutations of ALK kinase in neuroblastoma. Nature. 2008;455:971–974. DOI: 10.1038/nature07399.
23. George RE, Sanda T, Hanna M, Frohling S, Luther W, Zhang J, et al. Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature. 2008;455:975–978. DOI: 10.1038/nature07397.
24. Janoueix-Lerosey I, Lequin D, Brugieres L, Ribeiro A, de Pontual L, Combaret V, et al. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature. 2008;455:967–970. DOI: 10.1038/nature07398.
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26. Bourdeaut F, Ferrand S, Brugieres L, Hilbert M, Ribeiro A, Lacroix L, et al. ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. Europ J Hum Genet. 2012;20:291– 297. DOI: 10.1038/ejhg.2011.195.
27. De Mariano M, Gallesio R, Chierici M, Furlanello C, Conte M, Garaventa A, et al. Identification of GALNT14 as a novel neuroblastoma predisposition gene. Oncotarget. 2015;6(28):26335–46. DOI: 10.18632/ oncotarget.4501.
28. Schlisio S, Kenchappa RS, Vredeveld LCW, George RE, Stewart R, Greulich H, et al. The kinesin KIF1Bbeta (sic) acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008;22:884–893. DOI: 10.1101/ gad.1648608.
29. Jäger N, Schlesner M, Jones DT, Raffel S, Mallm JP, Junge KM et al. Hypermutation of the inactive X chromosome is a frequent event in cancer. Cell. 2013;155(3):567–81. DOI: 10.1016/j. cell.2013.09.042.
30. Satgé D, Sasco AJ, Plantaz D, Bénard J, Vekemans MJ. Abnormal number of X chromosomes and neuroblastic tumors. J Pediatr Hematol Oncol. 2001;23(5):331–2.
31. Zimmerman R, Schimmenti L, Spector L. A Catalog of Genetic Syndromes in Childhood Cancer. Pediatr Blood Cancer. 2015;62(12):2071–5. DOI: 10.1002/ pbc.25726.
32. Eleveld TF, Oldridge DA, Bernard V, Koster J, Daage LC, Diskin SJ, et al. Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. Nat Genet. 2015;47(8):864–71. DOI: 10.1038/ng.3333.
33. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011;157C(2):83–9. DOI: 10.1002/ ajmg.c.30300.
34. O’Neill KA, Murphy MF, Bunch KJ, Puumala SE, Carozza SE, Chow EJ, et al. Infant birthweight and risk of childhood cancer: international population-based case control studies of 40 000 cases. Int J Epidemiol. 2015;44(1):153–68. DOI: 10.1093/ije/dyu265.
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40. Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genet. 2009;41:718–723. DOI: 10.1038/ng.374.
41. Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, et al. Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature. 2011;469:216–220. DOI: 10.1038/ nature09609.
42. Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, et al. Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature. 2015;528:418–421. DOI: 10.1038/nature15540.
43. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 2009;459:987–991. DOI: 10.1038/ nature08035.
44. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2015. doi: 10.1038/gim.2015.78. DOI: 10.1038/ gim.2015.78.
45. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466–71. DOI: 10.1038/ng.279.
46. Pakakasama S, Tomlinson GE. Genetic predisposition and screening in pediatric cancer. Pediatr Clin North Am. 2002;49(6):1393–413.
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