Molecular Diagnosis of Fibro-osseous Lesions of the Oral and Maxillofacial Region: A Tale from Africa

Page: [3 - 11] Pages: 9

  • * (Excluding Mailing and Handling)

Abstract

Fibro-osseous lesions (FOLs) are a poorly defined but pathologically diverse group of lesions affecting the craniofacial bones and jaw. They are mostly characterized by the replacement of bone by a benign connective tissue matrix, which may contain foci of mineralization in the form of woven bone or cementum-like round acellular intensely basophilic structures. These lesions, although diverse, often present similar clinico-pathological and radiographic features. This often leads to difficulty in diagnosis and management. Definitive diagnosis is often reached only by incisional or excisional biopsy in resource-limited settings. Epidemiologically, the incidence and prevalence of different FOLs have been variable depending on the region. Reports from Africa indicated that FOLs make up to 10% of all oral biopsies, while others have given lower figures. A good understanding of the pathogenetic mechanism for FOLs is important, and state of the art molecular approaches are bound to improve the diagnosis and delineation of various entities that fall under the FOL category. Not least, the classification and nomenclature of these lesions by the World Health Organization (WHO) have changed significantly over the years. Hence, we have presented in this review a robust discussion on the pathobiology, emerging molecular markers, diagnostic challenges, future perspectives and recent changes to the classification/nomenclature of FOLs by WHO. In addition, we also discussed the diagnostic bottlenecks encountered during diagnosis of FOL in Africa.

Keywords: Fibro-osseous lesions, Africa, bone dysplasia, fibrous dysplasia, molecular diagnosis, ossifying fibroma.

Graphical Abstract

[1]
Prabhu S, Sharanya S, Naik PM, et al. Fibro-osseous lesions of the oral and maxillo-facial region: Retrospective analysis for 20 years. J Oral Maxillofac Pathol 2013; 17(1): 36-40.
[2]
Alawi F. Benign fibro-osseous diseases of the maxillofacial bones. A review and differential diagnosis. Am J Clin Pathol 2002; 118: S50-70.
[3]
Agarwal SP, Kumar S, Singh HP, Usmani SA. Huge ossifying fibroma maxilla. Natl J Maxillofac Surg 2015; 6(2): 241-3.
[4]
Tabareau-Delalande F, Collin C, Gomez-Brouchet A, et al. Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions. Mod Pathol 2013; 26(7): 911-21.
[5]
Speight P, Carlos R. Maxillofacial fibroosseous lesions. Curr Diagn Pathol 2006; 12: 1-10.
[6]
White S, Pharoah MJ. ORAL RADIOLOGY Principles and Interpretation. 5th ed. St. Louis, MO, USA: MO Mosby Inc 2004.
[7]
Dorfman HD. New knowledge of fibro-osseous lesions of bone. Int J Surg Pathol 2010; 18(3)(Suppl.): 62S-5S.
[8]
Brannon RB, Fowler CB. Benign fibro-osseous lesions: A review of current concepts. Adv Anat Pathol 2000; 8(3): 126-43.
[9]
Neville B, Damm DD, Allen CM, Chi A. Oral and maxillofacial Pathology 4th ed Neville B, Damm DD, Allen CM, Bouquot JE, editor. Philadelphia: WB Saunders 2002.
[10]
Eversole R, Su L, ElMofty S. Benign fibro-osseous lesions of the craniofacial complex. A review. Head Neck Pathol 2008; 2(3): 177-202.
[11]
Langdon JD, Rapidis AD, Patel MF. Ossifying fibroma-one disease or six? An analysis of 39 fibro-osseous lesions of the jaws. Br J Oral Surg 1976; 14(1): 1-11.
[12]
Ogunsalu CO, Lewis A, Doonquah L. Benign fibro-osseous lesions of the jaw bones in Jamaica: Analysis of 32 cases. Oral diseases 2001; 7(3): 155-62.
[13]
Eisenberg E, Eisenbud L. Benign fibro-osseous diseases: Current concepts in historical perspective. Oral Maxillofac Clin Nor Am 1997; 9: 551-5.
[14]
Bustamante EV, Albiol JG, Aytes LB, Escoda CG. Benign fibro-osseous lesions of the maxillas: Analysis of 11 cases. Med Oral Patol Oral 2008; 13(10): E653-.
[15]
Worawongvasu R, Songkampol K. Fibro-osseous lesions of the jaws: An analysis of 122 cases in Thailand. J Oral Pathol Med 2010; 39(9): 703-8.
[16]
Alsharif MJ, Sun ZJ, Chen XM, Wang SP, Zhao YF. Benign fibro-osseous lesions of the jaws: A study of 127 Chinese patients and review of the literature. Int J Surg Pathol 2009; 17(2): 122-34.
[17]
Kovi J, Laing WN. Tumours of the mandible and maxilla in accra, ghana. Cancer 1966; 19(9): 1301-7.
[18]
Abdulai A, Gyasi RK, Iddrissu MI. Benign fibro-osseous lesions of the facial skeleton: An analysis of 52 cases seen at the korle bu teaching hospital. Ghana Med J 2004; 38(3): 96-100.
[19]
Ajike SO, Arotiba JT, Adebola RA, Ladehinde A, Amole IO. Spectrum of oral and maxillofacial surgical procedures in Kano, Nigeria. West Indian Med J 2005; 54(5): 325-8.
[20]
Adebayo E, Ajike SO, Abite MG. Audit of oral and maxillofacial surgical conditions seen at port harcourt nigeria. Annals of Afr Med 2008; 7(1): 29-34.
[21]
MacDonald-Jankowski DS. Fibro-osseous lesions of the face and jaws. Clin Radiol 2004; 59(1): 11-25.
[22]
Anitha N, Sankari SL, Malathi L, Karthick R. Fibrous dysplasia-recent concepts. J Pharm Bioallied Sci 2015; 7(Suppl. 1): S171-2.
[23]
Riminucci M, Robey PG, Saggio I, Bianco P. Skeletal progenitors and the GNAS gene: Fibrous dysplasia of bone read through stem cells. J Mol Endocrinol 2010; 45(6): 355-64.
[24]
Mahore A, Rangarajan V, Patil M, Shendarkar A. Fibrous dysplasia with secondary osteosarcoma - A rare presentation of a common disease. J Neurol 2016; 64(3): 544-5.
[25]
Turan S, Bastepe M. GNAS spectrum of disorders. Curr Osteoporos Rep 2015; 13(3): 146-58.
[26]
Jour G, Oultache A, Sadowska J, et al. GNAS mutations in fibrous dysplasia: A comparative study of standard sequencing and locked nucleic acid pcr sequencing on decalcified and nondecalcified formalin-fixed paraffin-embedded tissues. Appl Immunohistochem Mol Morphol 2016; 24(9): 660-7.
[27]
Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 2000; 15(1): 120-8.
[28]
DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005; 87(8): 1848-64.
[29]
Candeliere GA, Glorieux FH, Prud’homme J, St-Arnaud R. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 1995; 332(23): 1546-51.
[30]
Toyosawa S, Yuki M, Kishino M, et al. Ossifying fibroma vs fibrous dysplasia of the jaw: Molecular and immunological characterization. Mod Pathol 2007; 20(3): 389-96.
[31]
Marie PJ. Cellular and molecular basis of fibrous dysplasia. Histol Histopathol 2001; 16(3): 981-8.
[32]
Waldron CA. Fibro-osseous lesions of the jaws. J Oral Maxillofac Surg 1993; 51(8): 828-35.
[33]
Melrose R. The clinico-pathologic spectrum of cemento-osseous dysplasia. Oral Maxillofac Surg Clin North Am 1997; 9: 643-54.
[34]
Eversole LR, Leider AS, Nelson K. Ossifying fibroma: a clinicopathologic study of sixty-four cases. Oral Surg Oral Med Oral Pathol 1985; 60(5): 505-11.
[35]
Sawyer JR, Tryka AF, Bell JM, Boop FA. Nonrandom chromosome breakpoints at xq26 and 2q33 characterize cemento-ossifying fibromas of the orbit. Cancer 1995; 76(10): 1853-9.
[36]
Dalcin P, Sciot R, Fossion E, Vandamme B, Vandenberghe H. Chromosome-abnormalities in cementifying fibroma. Cancer Genet Cytogenet 1993; 71(2): 170-2.
[37]
Monfort J, Sala DR, Romero AB, Duro JC, Maymo J, Carbonell J. Epidemiological, clinical, biochemical, and imaging characteristics of monostotic and polyostotic Paget’s disease. Bone 1999; 24(5)(Suppl.): 13S-4S.
[38]
Rebel A, Malkani K, Basle M, Bregeon C, Patezour A, Filmon R. Ultrastructural characteristics of osteoclasts in Paget’s disease. Rev Rhum Mal Osteoartic 1974; 41(12): 767-71.
[39]
Mills BG, Singer FR. Nuclear inclusions in Paget’s disease of bone. Science 1976; 194(4261): 201-2.
[40]
Mee AP, May C, Bennett D, Sharpe PT. Generation of multinucleated osteoclast-like cells from canine bone marrow: Effects of canine distemper virus. Bone 1995; 17(1): 47-55.
[41]
Reddy SV, Kurihara N, Menaa C, et al. Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts. Endocrinology 2001; 142(7): 2898-905.
[42]
Kurihara N, Reddy SV, Menaa C, Anderson D, Roodman GD. Osteoclasts expressing the measles virus nucleocapsid gene display a pagetic phenotype. J Clin Invest 2000; 105(5): 607-14.
[43]
Ralston SH. Clinical practice. Paget’s disease of bone. N Engl J Med 2013; 368(7): 644-50.
[44]
Bansal S, Shetty S, Bablani D, Kulkarni S, Kumar V, Desai R. Florid osseous dysplasia. J Oral Maxillofac Pathol 2011; 15(2): 197-200.
[45]
Alsufyani NA, Lam EW. Cemento-osseous dysplasia of the jaw bones: Key radiographic features. Dentomaxillofac Radiol 2011; 40(3): 141-6.
[46]
Raubenheimer EJ, Noffke CE, Boy SC. Osseous dysplasia with gross jaw expansion: A review of 18 lesions. Head Neck Pathol 2016; 10(4): 437-43.
[47]
Kramer I, Pindborg JJ, Shear M. Histological typing of odontogenic tumors.In: springer-verlag. Berlin, Germany 992; pp. 29-31.
[48]
Grewal HK, Goel P, Batra R, Chopra S. A tender swelling of the left posterior mandible: An unusual case. J Oral Maxillofac Pathol 2014; 18(2): 332.
[49]
Florencio-Silva R, Sasso GRD, Sasso-Cerri E, Simoes MJ, Cerri PS. Biology of bone tissue: structure, function, and factors that influence bone cells. BioMed Res Int 2015; 2015: 421746.
[50]
Wasserman JD, Tomlinson GE, Druker H, et al. Multiple endocrine neoplasia and hyperparathyroid-jaw tumor syndromes: Clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res 2017; 23(13): E123-32.
[51]
Shibata Y, Yamazaki M, Takei M, Uchino S, Sakurai A, Komatsu M. Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. Endocr J 2015; 62(7): 627-32.
[52]
Mele M, Rolighed L, Jespersen M, Rejnmark L, Christiansen P. Recurrence of hyperparathyroid hypercalcemia in a patient with the hrpt-2 mutation and a previous parathyroid carcinoma in hyperparathyroidism-jaw tumor syndrome. Int J Endocrinol Metab 2016; 14(2)
[53]
Feller L, Wood NH, Khammissa RA, Lemmer J, Raubenheimer EJ. The nature of fibrous dysplasia. Head Face Med 2009; 5: 22.
[54]
Albright F, Butler AM. Syndrome characterised by osteitis fibroma disseminate, areas of pigmentation and endocrine dysfunction, with precocious puberty in females report of five cases. N Engl J Med 1937; 216: 727-46.
[55]
Perdigao PF, Pimenta FJGS, Castro WH, De Marco L, Gomez RS. Investigation of the G(S)alpha gene in the diagnosis of fibrous dysplasia. Int J Oral Maxillofac Surg 2004; 33(5): 498-501.
[56]
Idowu BD, Al-Adnani M, O’Donnell P, et al. A sensitive mutationspecific screening technique for GNAS1 mutations in cases of fibrous dysplasia: The first report of a codon 227 mutation in bone. Histopathology 2007; 50(6): 691-704
[57]
Li YC, Samuvel DJ, Sundararaj KP, Lopes-Virella MF, Huang Y. IL-6 and high glucose synergistically upregulate mmp-1 expression by u937 mononuclear phagocytes via ERK1/2 and JNK Pathways and c-Jun. J Cell Biochem 2010; 110(1): 248-59.
[58]
Mechta-Grigoriou F, Gerald D, Yaniv M. The mammalian Jun proteins: redundancy and specificity. Oncogene 2001; 20(19): 2378-89.
[59]
Schuringa JJ, Timmer H, Luttickhuizen D, Vellenga E, Kruijer W. c-Jun and c-Fos cooperate with STAT3 in IL-6-induced transactivation of the IL-6 respone element (IRE). Cytokine 2001; 14(2): 78-87.
[60]
Dal Cin P, Sciot R, Brys P, et al. Recurrent chromosome aberrations in fibrous dysplasia of the bone: A report of the CHAMP study group. CHromosomes And MorPhology. Cancer Genet Cytogenet 2000; 122(1): 30-2.
[61]
Liu Y, Wang H, You M, et al. Ossifying fibromas of the jaw bone: 20 cases. Dentomaxillofac Radiol 2010; 39(1): 57-63.
[62]
Barnes L, Eveson JW, Reichart P, Sidransky D, Eds. World health organization classification of tumours Pathology & Genetics of Head and Neck Tumours. Lyon, France: IARC Press 2005.
[63]
Yoon JH, Kim J, Lee CK, Choi IJ. Clinical and histopathological study of fibro-osseous lesions of the jaws. Yonsei Med J 1989; 30(2): 133-43.
[64]
Su L, Weathers DR, Waldron CA. Distinguishing features of focal cemento-osseous dysplasias and cemento-ossifying fibromas: I. A pathologic spectrum of 316 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997; 84(3): 301-9.
[65]
Nwizu N, Aguirre A, Chen F. Diagnostic challenges of benign fibroosseous lesions and psammomatoid meningiomas of the craniofacial region: A comparative review of their clinico-pathological features. N Am J Med Sci 2010; 3(1): 17-23.
[66]
Maheshwari P, Rao NN, Radhakrishna R. Histochemical evaluation of stromal components in fibrous dysplasia, central ossifying fibroma and juvenile ossifying fibroma affecting the Jaw bones. J Dent Res 2014; 2(1): 3-7.
[67]
Obisesan AA, Lagundoye SB, Daramola JO, Ajagbe HA, Oluwasanmi JO. The radiologic features of fibrous dysplasia of the craniofacial bones. Oral Surg Oral Med Oral Pathol 1977; 44(6): 949-59.
[68]
Huvos A. Fibrous dysplasia and Ossifying fibroma Bone Tumors Diagnosis, Treatment and Prognosis. 2nd ed. Philadelphia W.B. Saunders Company 1991.
[69]
Sobral A, Herculano CLT, Balaban R. Evaluation of calcium íon deposition in benign fibro-osseous lesions: A histochemical study. Rev Cir Traumatol Buco-Maxilo-fac 2009; 9(2): 81-8.
[70]
Gulati A, Rao NN, Radbakrishnan RA. Fibrous dysplasia and ossifying fibroma. J Clin Exp Dent 2011; 3(4): 297-302.
[71]
Soyele O, Effiom OA, Odukoya O. Masson’s trichrome and agnor study of fibrous dysplasia and ossifying fibroma in lagos university teaching hospital patients world. J Pathol 2013; 2: 94-101.
[72]
Eslami M, Baghaee F, Alaeddini M. Diagnostic value of silver stained nucleolar organizer regions in osteosarcoma, fibrous dysplasia and ossifying fibroma of the jaws. Acta Med Iran 2005; 43(4): 243-8.
[73]
Williams AO, Browne RM, Akinosi JO. Fibro-osseous lesions of the jaw in Nigeria. J Natl Med Assoc 1974; 66(3): 185-91.
[74]
Garcia B, Caldeira PC, Johann ACBR, Sousa SCOM. Comparative cellular proliferative activity in ossifying and odontogenic fibromas. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008; 2: 7-12.
[75]
Maki M, Saitoh K, Horiuchi H, Morohoshi T, Fukayama M, Machinami R. Comparative study of fibrous dysplasia and osteofibrous dysplasia: Histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. Pathol Int 2001; 51(8): 603-11.
[76]
Yoshikawa H, Nakase T, Myoui A, Ueda T. Bone morphogenetic proteins in bone tumors. J Orthop Sci 2004; 9(3): 334-40.
[77]
Mouselhy Y, Draz AI, El-Shafei MM, El-Rouby DH. Comparative immunohistochemical study on osteocalcin expression in fibrous dysplasia and ossifying fibroma. Int J Acad Res Part A 2013; 5(1): 9-13.
[78]
Mohanty S, Gupta S, Kumar P, Sriram K, Gulati U. Retrospective analysis of ossifying fibroma of jaw bones over a period of 10 years with literature review. J Maxillofac Oral Surg 2014; 13(4): 560-7.
[79]
Guerin M, Thariat J, Ouali M, et al. A new subtype of high-grade mandibular osteosarcoma with RASAL1/MDM2 amplification. Hum Pathol 2016; 50: 70-8.
[80]
Shin SJ, Lee SJ, Kim SK. Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification. Scientific reports 2017; 7(1): 2836.
[81]
Sciubba JJ, Younai F. Ossifying fibroma of the mandible and maxilla: Review of 18 cases. J Oral Pathol Med 1989; 18(6): 315-21.
[82]
Summerlin DJ, Tomich CE. Focal cemento-osseous dysplasia: A clinicopathologic study of 221 cases. Oral Surg Oral Med Oral Pathol 1994; 78(5): 611-20.
[83]
Lawal A, Adisa AO, Lasisi TJ. Florid cement-osseous dysplasia: A report of two cases seen at the university college hospital ibadan. Ann Ib Postgrad Med 2011; 3: 45-7.
[84]
Macdonald-Jankowski DS. Focal cemento-osseous dysplasia: A systematic review. Dentomaxillofac Radiol 2008; 37(6): 350-60.
[85]
Ette A, Haeffner G, Bamba M, Cisse G, Fakhry K. Surgery of ossifying fibromas in the Ivory Coast. Rev Laryngol Otol Rhinol (Bord) 1980; 101(11-12): 513-26.
[86]
Daramola JO, Ajagbe HA, Obisesan AA, Lagundoye SB, Oluwasanmi JO. Fibrous dysplasia of the jaws in Nigerians. Oral Surg Oral Med Oral Pathol 1976; 42(3): 290-300.
[87]
Adekeye EO, Edwards MB, Goubran GF. Fibro-osseous lesions of the skull, face and jaws in Kaduna, Nigeria. Br J Oral Surg 1980; 18(1): 57-72.
[88]
Lasisi TJ, Adisa AO, Olusanya AA. Fibro-osseous lesions of the jaws in Ibadan, Nigeria. Oral Health Dent Manag 2014; 13(1): 41-4.
[89]
Sule A, Iyogun CA, Adeyemi TE. Pattern of fibro osseous lesions of the jaws in kano, Northern Nigeria. J Dent Oral Health 2017; 3(5): 74-6.
[90]
Cook J, Singh P. Tumours of the Jaw. East Afr Med J 1956; 33: 383-6.
[91]
Slootweg PJ, Muller H. Differential diagnosis of fibro-osseous jaw lesions. A histological investigation on 30 cases. J Craniomaxillofac Surg 1990; 18(5): 210-4.
[92]
Anand SV, Davey WW, Cohen B. Tumours of the jaw in West Africa. A review of 256 patients. Br J Surg 1967; 54(11): 901-17.
[93]
Muwazi LM, Kamulegeya A. The 5-year prevalence of maxillofacial fibro-osseous lesions in Uganda. Oral Dis 2015; 21(1): e79-85.
[94]
Moshy J, Dimba E, Ocholla T, Chinda M. Characteristic radiological and histological patterns of fibrous dysplasia and ossifying fibroma of the jaws at University of Nairobi Dental Teaching Hospital. Surg Sci 2012; 3: 189-93.
[95]
Cooke B. Benign fibro-osseous enlargements of the jaws: Part I and II. Br Dent J 1957; 103: 1-14, 49-59.
[96]
Pecaro BC. Fibro-osseous lesions of the head and neck. Otolaryngol Clin North Am 1986; 19(3): 489-96.
[97]
Hamner JE III, Scofield HH, Cornyn J. Benign fibro-osseous jaw lesions of periodontal membrane origin. An analysis of 249 cases. Cancer 1968; 22(4): 861-78.
[98]
Gowing NFC. International histological classification of tumours no. 5: Histological typing of odontogenic tumours. Jaw cysts, and allied lesions. J Clin Pathol 1972; 25(10): 917.
[99]
Pindborg JJKI, Torloni H. Histological typing of odontogenic tumours, jaw cysts, and allied lesionsnternational histological classification of tumours World Health Organization Book 5 Geneva, Switzerland .
[100]
Kramer IR, Pindborg JJ, Shear M. The WHO histological typing of odontogenic tumours A commentary on the second edition Cancer 1992; 70(12): 2988-94.
[101]
Wright JM, Vered M. Update from the 4th edition of the world health organization classification of head and neck tumours: odontogenic and maxillofacial bone tumors Head Neck Pathol 2017; 11(1): 68-77.
[102]
Adeola HA, Soyele OO, Adefuye AO, Jimoh SA, Butali A. Omics-based molecular techniques in oral pathology centred cancer: Prospect and challenges in Africa. Cancer Cell Int 2017; 17: 61.