Genetic heterogenety of tumour-like lesions of bones in maxillofacial area



Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Benign tumors and tumor-like lesions of the bones are rare. At present, their diagnosis is based on radiation and pathological methods. However, the genetic etiology of this group of diseases is being actively studied in order to search for molecular markers with high diagnostic and prognostic potential.

Full Text

Restricted Access

About the authors

E. G Sviridov

A.I. Evdokimov Moscow State University of Medicine and Dentistry

A. I Kadykova

A.I. Evdokimov Moscow State University of Medicine and Dentistry; I.P. Pavlov Ryazan State Medical University

N. A Redko

A.I. Evdokimov Moscow State University of Medicine and Dentistry

A. Yu Drobyshev

A.I. Evdokimov Moscow State University of Medicine and Dentistry

R. V Deev

A.I. Evdokimov Moscow State University of Medicine and Dentistry; I.P. Pavlov Ryazan State Medical University; Human Stem Cells Institute

References

  1. National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) program. https://seer.cancer.gov/statfacts/html/common.html.
  2. Fritzsche H., Schaser K.-D., Hofbauer C. Benigne Tumoren und tumorahnliche Lasionen des Knochens. Der Orthopade 2017; 46: 484-97.
  3. Котельников Г.П., Козлов С.В., Николаенко А.Н., Иванов В.В. Комплексный подход к дифференциальной диагностике опухолей костей. Онкология 2015; 4(5): 12-6.
  4. Fletcher C., Bridge, J.A., Hogendoorn P., Mertens F. WHO Classification of Tumours of Soft Tissue and Bone - 4th edition, Lyon: Agency for Research on Cancer. 2013.
  5. Yuceturk G., Sabah D., Kegeci B. et al. Prevalence of bone and soft tissue tumors. 2011; 45(3):135-143. doi: 10.3944/AOTT.2011.2504.
  6. Dorfman H.D., Czerniak B., "Bone Tumors,” Mosby St Louis, 1998.
  7. Schaser K.-D., Bail H.J., Haas N.P. et al. Behandlungskonzepte bei benignen Knochentumoren und tumorsimulierenden Knochenlasionen. Chirurg/ 2002; 73:1181-1190.doi: 10.1007/s00104-002-0584-4/.
  8. Surg, W.C. Fibro-osseous lesions of the jaws. Oral Maxillofacial Surg. 1993; 51: 828-835.
  9. Eisenberg E. Benign fibro-osseous diseases: current concepts. Clin. Nor Am. 1997; 9: 551-562.
  10. Slootweg P.J., Muller H. Differential diagnosis of fibro-osseous jaw lesions. A histological investigation on 30 cases. J Craniomaxillofac. Surg. 1990; 18 (5):210-214.
  11. Hiroshi H, Tetsuro M., Takashi A. et al. Malignant transformation of fibrous dysplasia: A case report. Oncol Lett. 2014; 8(1): 384-386. doi: 10.3892/ol.2014.2082.
  12. Jundt G. and et al. WHO classification of tumors, pathology and genetics of tumors of the head and neck. Lyon: Agency for Research on Cancer.2005.
  13. Shi R.R., Li X.F., Zhang R. et al. GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw. Modern Pathology. 2013; 26(8):1023-1031. doi: 10.1038/modpathol.2013.31.
  14. Patel M.M., Wilkey J.F., Abdelsayed R., et al.Analysis of GNAS mutations in cemento-ossifying fibromas and cemento-osseous dysplasias of the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109 (5):739-743. doi: 10.1016/j.tripleo.2009.12.016.
  15. Chen X. et al. Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia, Journal of Cranio-Maxillo-Facial Surgery. 2018; 1-6. doi: 10.1016/j.jcms.2018.02.005.
  16. Афанасьев В.В. Хирургическая стоматология. М.: ГЭОТАР-Медиа, 2015.
  17. Adel K. EI-Naggar, John K.C. Chan, Jennifer R. et al. WHO Classification of Head and Neck Tumours. International Agency for Research on Cancer- 4th edition, Lyon: Agency for Research on Cancer.2017.
  18. MacDonald-Jankowski D.S. Fibro-osseous lesions of the face and jaws. Clin Radiol. 2004; 59(1):11-25.
  19. Carlson E.R., August M., Ruggiero S.L. Locally aggressive benign processes of the oral and maxillofacial region. Sroms. V. 12 (3):1-52.
  20. Reichart P.A., Philipsen H.P., Sonner S. Ameloblastoma: biological profile of 3677 cases. Eur J Cancer B Oral Oncol. 1995; 31(2):86-99.
  21. Mendenhall W.M., Werning J.W., Fernandes R. et al. Ameloblastoma. Am J Clin Oncol. 2007; 30(6):645-648.
  22. Kurppa K.J., Caton J., Morgan P.R. et al. High frequency of BRAF V600E mutations in ameloblastoma. J Pathol. 2014; 232(5):492-498.
  23. Sweeney R.T., McClary A.C., Myers B.R. et al. Identification of recurrent SMO and BRAF mutations in ameloblastomas. Nat Genet. 2014; 46(7):722-725.
  24. Brown N.A., Rolland D., McHugh J.B. et al. Activating FGFR2-RAS-BRAF mutations in ameloblastoma. Clin Cancer Res. 2014; 20(21):5517-5526.
  25. Diniz M.G., Gomes C.C., Guimaraes B.V. et al. Assessment of BRAFV600E and SMOF412E mutations in epithelial odontogenic tumours. Tumour Biol. 2015;36 (7):5649-5653.
  26. Curtin J.A., Fridlyand J., Kageshita T. et al. Distinct sets of genetic alterations in melanoma. N. Engl. J. Med. 2005; 353(20):2135-2147.
  27. Tiacci E., Trifonov V., Schiavoni G. et al. BRAF mutations in hairy-cell leukemia. N. Engl. J. Med. 2011; 364 (24):2305-2315.
  28. Puxeddu E., Moretti S., Elisei R. et al. BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. J. Clin. Endocrinol Metab. 2004; 89(5):2414-2420.
  29. Badalian-Very G., Vergilio J.A., Degar B.A. et al. Recurrent BRAF mutations in langerhans cell histiocytosis. Blood. 2010; 116(11):1919-1923.
  30. Rajagopalan H., Bardelli A., Lengauer C. et al. RAF/RAS oncogenes and mismatch-repair status. Nature. 2002; 418(6901):934.
  31. Niault T.S., Baccarini M. Targets of Raf in tumorigenesis. Carcinogenesis. 2010; 31(7):1165-1174.
  32. Murone M., Rosenthal A., de Sauvage F.J. Sonic hedgehog signaling by the patched-smoothened receptor complex. Curr. Biol.1999; 9: 76-84.
  33. Stone D.M., Hynes M., Armanini M. et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature.1996; 384: 129-134.
  34. Kawabata T., Takahashi K., Sugai M. et al. Polymorphisms in PTCH1 affects the risk of ameloblastoma. J. Dent. Res. 2005; 84(9):812-816.
  35. Dalati T., Zhou H. Gorlin syndrome with ameloblastoma: a case report and review of literature. Cancer Invest. 2008; 26(10):975-976.
  36. Кулаков Л.А. Хирургическая стоматология и челюстно-лицевая хирургия. Национальное руководствою. М.: «ГЭОТАР-Медиа», 2010. - 928 с.
  37. Browne R.M. The odontogenic keratocyst. Histological features and their correlation with clinical behaviour. Br. Dent. J.1971; 131: 249-259.
  38. Li T.J., Browne R.M., Matthews J.B. Quantification of PCNA+ cells within odontogenic jaw cyst epithelium. J. Oral. Pathol. Med. 1994; 23: 184-189.
  39. Evans D.G., Ladusans E.J., Rimmer S., Burnell L.D., Thakker N. et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J. Med. Genet.1993; 30: 460-464.
  40. Lo Muzio L., Nocini P.F., Savoia A. et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin. Genet. 1999; 55: 34-40.
  41. Ljubenovi M., Ljubenovi D., Bini I. Gorlin-Goltz syndrome.Acta Dermatoven. 2007; 16:166-169.
  42. Gailani M.R., Bale S.J., Leffell D.J. et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell. 1992; 69: 111-117.
  43. Hahn H., Wicking C., Zaphiropoulous P.G. et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell.1996; 85: 841-851.
  44. Johnson R.L., Rothman A.L., Xie J. et al. Human homolog of patched a candidate gene for the basal cell nevus syndrome. 1996; 5268 ed:1668-1671.
  45. Pan S., Li T.J. PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation? Oral Oncol.2009; 45: 861-865.
  46. Guo Y., Zhang J., Li X. et al. PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review. PLoS One. 2013; 8(10). doi: 10.1371/journal.pone.0077305.
  47. Chapurlat R.D, Orcel P. Fibrous dysplasia of bone and McCuneeAl-bright syndrome. Best Pract. Res. Clin. Rheumatol. 2008; 22:55-69.
  48. Waldron C.A. Fibro-osseous lesions of the jaws. J. Oral Maxillofac Surg. 1993; 51(8):828-35.
  49. Riminucci M., Robey P.G., Saggio I. et al. Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells. J. Mol. Endocrinol. 2010; 45(6): 355-364. doi: 10.1677/JME-10-0097.
  50. Bourne H.R., Landis C.A., Masters S.B. Hydrolysis of GTP by the alpha-chain of Gs and other GTP binding proteins. Proteins. 1989; 6(3):222-30. doi: 10.1002/prot.340060304.
  51. Bhattacharyya N., Wiench M., Dumitrescu C. et al. Mechanism of FGF23 processing in fibrous dysplasia. J. Bone Miner Res. 2012; 27(5):1132-41. doi: 10.1002/jbmr.1546.
  52. Riminucci M., Collins M.T., Fedarko N. et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J. Clin. Invest. 2003; 112(5):683-92.
  53. Candeliere G.A., Roughley P.J., Glorieux F.H. Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone. 1997; 21(2):201-216.
  54. Lumbroso S., Paris F., Sultan C. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. J. Clin. Endocrinol. Metab. 2004; 89(5):2107-2113. doi: 10.1210/jc.2003-031225.
  55. Neumaier M., Braun A., Wagener C. Fundamentals of quality assessment of molecular amplification methods in clinical diagnostics. International Federation of Clinical Chemistry Scientific Division Committee on Molecular Biology Techniques. Clin. Chem. 1998 ;44(1):12-26.
  56. Chen J.D., Morrison C., Zhang C. et al. Hyperparathyroidism-jaw tumour syndrome. Journal of Internal. Medicine. 2003; 253: 634-642. doi: 10.1046/j.1365-2796.2003.01168.x.
  57. Aldred M.J, Talacko A.A, Savarirayan R. et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg. Oral Med. Oral Pathol. Oral Radiol Endod. 2006; 101 (2):212-218. doi: 10.1016/j.tripleo.2005.06.011
  58. Carpten J.D., Robbins C.M., Villablanca A. et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002; 32(4):676-80. doi: 10.1038/ng1048.
  59. Yart A., Gstaiger M., Wirbelauer C. et al. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol. Cell Biol. 2005; 25(12):5052-60. doi: 10.1128/ MCB.25.12.5052-5060.2005.
  60. Cavaco B.M., Santos R., Felix A. et al. Identification of de novo germ-line pathogenic variants in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor. Endocr Pathol. 2011; 22: 44- 52.
  61. Iacobone M., Masi G., Barzon L. et al. Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. Langenbecks Arch Surg. 2009; 394:817-825.
  62. Kutcher M.R., Rigby M.H., Bullock M. et al. Hyperparathyroidism-jaw tumor syndrome. Head Neck. 2013; 35(6): 175-7177. doi: 10.1002/ hed.22918.
  63. Newey P.J., Bowl M.R., Cranston T. et al. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum. Mutat. 2010; 31(3):295-307. doi: 10.1002/humu.21188.
  64. Pichardo-Lowden A.R., Manni A., Saunders B.D. et al. Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. Endocr. Pract. 2011; 17(4):602-609. doi: 10.4158/EP10337.RA.
  65. Siu W.K., Law C.Y., Lam C.W. et al. Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors. Fam. Cancer. 2011; 10(4):695-699. doi: 10.1007/s10689-011-9466-6.
  66. Alman B.A., Li C., Pajerski M.E. et al. Increased p-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997; 151(2): 329-334.
  67. Bhattacharya B.1., Dilworth H.P., Iacobuzio-Donahue C. et al. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am. J. Surg. Pathol. 2005; 29(5):653-659.
  68. Carlson J.W., Fletcher C.D. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology. 2007; 51(4):509-514. doi: 10.1111/j.1365-2559.2007.02794.x.
  69. Ng T.L., Gown A.M., Barry T.S. et al. Nuclear beta-catenin in mesenchymal tumors. Mod. Pathol. 2005; 18(1):68-74. doi: 10.1038/ modpathol.3800272.
  70. Liu F., Millar S.E. Wnt/p-catenin Signaling in Oral Tissue Development and Disease. J. Dent. Res.2010; 89 (4):318-330.doi: 10.1177/0022034510363373.
  71. Jarvinen E., Salazar-Ciudad I., Birchmeier W. Biological Sciences Continuous tooth generation in mouse is induced by activated epithelial Wnt/ p-catenin signaling. PNAS. 2006; 103 (49)18627-18632. doi:10.1073/ pnas.0607289103.
  72. Shigeki S., Sunao S.,Takashi T. et al. p-Catenin Mutations Are Frequent in Calcifying Odontogenic Cysts, but Rare in Ameloblastomas. Am. J. Pathol. 2003; 163(5): 1707-1712.
  73. Siriwardena B.S., Kudo Y., Ogawa I.et al. Aberrant beta-catenin expression and adenomatous polyposis coli gene mutation in ameloblastoma and odontogenic carcinoma. Oral Oncol. 2009; 45(2):103-108. doi: 10.1016/j.oraloncology.2008.03.008
  74. Hauben E.I., Jundt G., Cleton-Jansen A.M. et al. Desmoplastic fibroma of bone: an immunohistochemical study including beta-catenin expression and mutational analysis for beta-catenin. Hum. Pathol. 2005 Sep;36(9):1025-1030. doi: 10.1016/j.humpath.2005.07.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2019 Eco-Vector


СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: 

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies