Two cases of multiple ossifying fibromas in the jaws

Diagnostic Pathology

Tie-Jun Li³  Qing Dong¹  Yan Chen²  Lin Wang¹  Ran Zhang²  Ting-Ting Wang¹ 

[1] Department of Oral Medicine, Hebei United University, School and Hospital of Stomatology, Tangshan, 82 South Construction Road, Hebei 063000, Lubei District, PR China;Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China;National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing, China

关键词: Osseous dysplasia;    HRPT2 gene;    GNAS gene;    Fibrous dysplasia;    HPT-JT;    Multiple ossifying fibroma;   

Others  :  802021
DOI  :  10.1186/1746-1596-9-75

 received in 2013-12-30, accepted in 2014-02-07,  发布年份 2014

【 摘 要 】

Background

The clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition’s rarity, making diagnosis challenging. Sporadic multiple OFs must be distinguished from hyperparathyroidism-jaw tumour syndrome (HPT-JT) related OF and other fibro-osseous lesions.

Methods

Multiple OF cases were identified from ossifying fibroma cases. Clinical data including age, sex, anatomic site, radiographic features, clinical impression, treatment and available follow-up data as well as serum calcium, phosphorus, and parathyroid hormone (PTH) were recorded. GNAS and HRPT2 genetic mutations were examined in the two present cases. Case reports of sporadic multiple ossifying fibroma and HPT-JT-related OF were also reviewed.

Results

The two present cases were confirmed as sporadic multiple OF, with no genetic GNAS and HRPT2 mutations found. The incidence of sporadic multiple ossifying fibroma was 2.0% (2/102). The total 18 sporadic multiform OF cases were characterized as followed: 13 (72.2%) female; 5 (27.8%) male; mean age 28.6 years; 2/16 (11.1%) cases only in the mandible; 4/18 (22.2%) cases only in the maxilla; and 12/18 (66.7%) cases in both the maxilla and mandible. Radiographically, the lesions were radiolucent in 5/18 (27.8%) cases and mixed density in 13/18 (72.2%) cases. Along with 24 cases of HPT-JT related OF were reviewed, sixteen (66.7%) patients were diagnosed with a single lesion, and 8 patients (33.3%) were diagnosed with multiple jaw lesions.

Conclusions

Sporadic multiple OFs are very rare, but must be distinguished from HPT-JT related OF. We strongly recommend that patients diagnosed with multiple ossifying fibromas receive serum PTH testing and mutation screening of HRPT2.

Virtual slides

http://www.diagnosticpathology.diagnomx.eu/vs/1194507146115753 webcite

【 授权许可】

   
2014 Wang et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

【 参考文献 】

• [1]Eversole R, Su L, ElMofty S: Benign fibro-osseous lesions of the craniofacial complex: a review. Head Neck Pathol 2008, 2:177-202.
• [2]Barnes L, Eveson J, Reichart P, Sidransky D: World Health Organization Classification of Tumours: Pathology and Genetics of Head and Neck Tumours. Lyon: IARC Press; 2005. [Book World Health Organization Classification of Tumours: Pathology and Genetics of Head and Neck Tumours]
• [3]Waldron CA: Fibro-osseous lesions of the jaws. J Oral Maxillofac Surg 1993, 51:828-835.
• [4]Chambers MS, Rassekn CH, Toth BB, Lemon JC, Hoffman RD: A maxillary fibro-osseous lesion: differential diagnosis and case report. Tex Dent J 2002, 119:12-19.
• [5]Toyosawa S, Yuki M, Kishino M, Ogawa Y, Ueda T, Murakami S, Konishi E, Iida S, Kogo M, Komori T, Tomita Y: Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization. Modern Pathol 2007, 20:389-396.
• [6]Alawi F: Benign fibro-osseous diseases of the maxillofacial bones. A review and differential diagnosis. Am J Clin Pathol 2002, 118(Suppl):S50-S70.
• [7]Kusano T, Hirabayashi S, Eguchi T, Sugawara Y: Treatment strategies for fibrous dysplasia. J Craniofac Surg 2009, 20:768-770.
• [8]Slootweg PJ: Bone diseases of the jaws. Int J Dent 2010, 2010:702314.
• [9]Shi RR, Li XF, Zhang R, Chen Y, Li TJ: GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw. Modern Pathol 2013, 26:1023-1031.
• [10]Brannon RB, Fowler CB: Benign fibro-osseous lesions: a review of current concepts. Adv Anat Pathol 2001, 8:126-143.
• [11]Kuznetsov SA, Cherman N, Riminucci M, Collins MT, Robey PG, Bianco P: Age-dependent demise of GNAS-mutated skeletal stem cells and “normalization” of fibrous dysplasia of bone. J Bone Miner Res 2008, 23:1731-1740.
• [12]Aldred MJ, Talacko AA, Savarirayan R, Murdolo V, Mills AE, Radden BG, Alimov A, Villablanca A, Larsson C: 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, 101:212-218.
• [13]Cavaco BM, Barros L, Pannett AA, Ruas L, Carvalheiro M, Ruas MM, Krausz T, Santos MA, Sobrinho LG, Leite V, Thakker RV: The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 2001, 94:213-222.
• [14]Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE: Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 1990, 108:1006-1012. discussion 1012–1003
• [15]Yamashita Y, Akiyama T, Mizusawa N, Yoshimoto K, Goto M: A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone. Int J Oral Max Surg 2007, 36:365-369.
• [16]Carpten J, Robbins C, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds W, Gillanders E, Kennedy A, Chen J: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome. Nat Gen 2002, 32:676-680.
• [17]Shattuck TM, Valimaki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A: Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. New Engl J Med 2003, 349:1722-1729.
• [18]Pimenta FJ, Gontijo Silveira LF, Tavares GC, Silva AC, Perdigao PF, Castro WH, Gomez MV, Teh BT, De Marco L, Gomez RS: HRPT2 gene alterations in ossifying fibroma of the jaws. Oral Oncol 2006, 42:735-739.
• [19]Haven CJ, Wong FK, van Dam EW, van der Luijt R, van Asperen C, Jansen J, Rosenberg C, de Wit M, Roijers J, Hoppener J: A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocr Metab 2000, 85:1449-1454.
• [20]Hobbs MR, Pole AR, Pidwirny GN, Rosen IB, Zarbo RJ, Coon H, Heath H 3rd, Leppert M, Jackson CE: Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Am J Hum genet 1999, 64:518-525.
• [21]Popli DB, Desai R, Bansal S, Andrade NN: Bilateral psammomatoid ossifying fibroma: a case report and review of the literature. J Oral Maxillofac Surg 2013, 71:714-720.
• [22]Desai K, Gupta K, Manjunatha BS, Palan S: Bimaxillary presentation of central ossifying fibroma: a unique aggressive entity. BMJ Case Rep 2013., 2013doi:10.1136/bcr-2013-010124
• [23]Ponniah I, Sethurajan SB, Rajiah D: A multilocular radiolucency with spindle cell proliferation in a case of ossifying fibroma: a potential pitfall. Dento Maxillo Facial Radiol 2012, 41:605-608.
• [24]Kutcher MR, Rigby MH, Bullock M, Trites J, Taylor SM, Hart RD: Hyperparathyroidism-jaw tumor syndrome. Head Neck 2013, 35:E175-E177.
• [25]Iacobone M, Masi G, Barzon L, Porzionato A, Macchi V, Ciarleglio FA, Palu G, De Caro R, Viel G, Favia G: Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. Langenbeck Arch Surg 2009, 394:817-825.
• [26]Raue F, Haag C, Frank-Raue K: [Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. Deutsche medizinische Wochenschrift 2007, 132:1459-1462.
• [27]Moon SD, Park JH, Kim EM, Kim JH, Han JH, Yoo SJ, Yoon KH, Kang MI, Lee KW, Son HY, Kang SK, Oh SJ, Kim KM, Yoon SJ, Park JG, Kim IJ, Kang HC, Hong SW, Kim KR, Cha BY: A Novel IVS2-1G > A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. J Clin Endocr Metab 2005, 90:878-883.
• [28]Teh BT, Farnebo F, Kristoffersson U, Sundelin B, Cardinal J, Axelson R, Yap A, Epstein M, Heath H 3rd, Cameron D, Larsson C: Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocr Metab 1996, 81:4204-4211.
• [29]Mallette LE, Malini S, Rappaport MP, Kirkland JL: Familial cystic parathyroid adenomatosis. Ann Int Med 1987, 107:54-60.
• [30]Rekik N, Ben Naceur B, Mnif M, Mnif F, Mnif H, Boudawara T, Abid M: Hyperparathyroidism-jaw tumor syndrome: a case report. Annales d’endocrinologie 2010, 71:121-126.
• [31]Dinnen JS, Greenwoood RH, Jones JH, Walker DA, Williams ED: Parathyroid carcinoma in familial hyperparathyroidism. J Clin Pathol 1977, 30:966-975.
• [32]Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V: Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocr Metab 2004, 89:1747-1752.
• [33]Schmidt BP, Bradrick JP, Gabali A: Hyperparathyroidism-jaw tumor syndrome: a case report. J Oral Maxillofac Surg 2009, 67:423-427.
• [34]Szabo J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, Besser GM, Thakker RV, Huff V, Leppert MF, Heath H: Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet 1995, 56:944-950.
• [35]Howell VM, Zori RT, Stalker HJ, Williams C, Jesse N, Nelson AE, Robinson BG, Marsh DJ: A molecular diagnosis of hyperparathyroidism—jaw tumor syndrome in an adolescent with recurrent kidney stones. J Pediatr 2004, 145:567.
• [36]Warnakulasuriya S, Markwell BD, Williams DM: Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings. Oral Surg Oral Med Oral Pathol 1985, 59:269-274.
• [37]Fujikawa M, Okamura K, Sato K, Mizokami T, Tamaki K, Yanagida T, Fujishima M: Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. Eurn J Endocrinol 1998, 138:557-561.
• [38]Bradley ES Jr, Leake D: Ossifying fibroma involving the maxilla and mandible: report of a case. Oral Surg Oral Med Oral Pathol 1968, 26:605-614.
• [39]Takeda Y, Fujioka Y: Multiple cemento-ossifying fibroma. Int J Oral Maxillofac Surg 1987, 16:368-371.
• [40]Hauser MS, Freije S, Payne RW, Timen S: Bilateral ossifying fibroma of the maxillary sinus. Oral Surg Oral Med Oral Pathol 1989, 68:759-763.
• [41]Yih WY, Pederson GT, Bartley MH Jr: Multiple familial ossifying fibromas: relationship to other osseous lesions of the jaws. Oral Surg Oral Med Oral Pathol 1989, 68:754-758.
• [42]Khanna JN, Andrade NN: Giant ossifying fibroma. Case report on a bimaxillary presentation. Int J Oral Maxillofac Surg 1992, 21:233-235.
• [43]Hwang EH, Kim HW, Kim KD, Lee SR: Multiple cemento-ossifying fibroma: report of an 18-year follow-up. Dento Maxillo Facial Radiol 2001, 30:230-234.
• [44]Bertolini F, Caradonna L, Bianchi B, Sesenna E: Multiple ossifying fibromas of the jaws: a case report. J Oral Maxillofac Surg 2002, 60:225-229.
• [45]Barberi A, Cappabianca S, Colella G: Bilateral cemento-ossifying fibroma of the maxillary sinus. Brit J Radiol 2003, 76:279-280.
• [46]Stergiou GC, Zwahlen RA, Gratz KW: [Multiple cemento-ossifying fibromas of the jaw: a very rare diagnosis]. Schweiz Monatsschr Zahnmed 2007, 117:236-244.
• [47]Chindia ML, Dimba EA, Moshy J, Limo A, Otwoma JG, Guthua SW: Synchronous occurrence of ossifying fibroma of the mandible and maxilla: a case report. Dent Update 2008, 35:705-707.
• [48]Ribeiro AC, Carlos R, Diaz KP, Gouvea AF, Vargas PA: Bilateral central ossifying fibroma affecting the mandible: report of an uncommon case and critical review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011, 111:e21-e26.
• [49]Akcam T, Altug HA, Karakoc O, Sencimen M, Ozkan A, Bayar GR, Gunhan O: Synchronous ossifying fibromas of the jaws: a review. Oral Surg Oral Med Oral Pathol Oral Radiol 2012, 114:S120-S125.
• [50]Agarwal N, Gupta P, Gupta P, Naik S, Upadhyay N: Recurrent bimaxillary radiopacities: a rare case report. Contemp Clin Dent 2012, 3:S103-S108.
• [51]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, 17:122-134.
• [52]Idowu BD, Al-Adnani M, O’Donnell P, Yu L, Odell E, Diss T, Gale RE, Flanagan AM: A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology 2007, 50:691-704.
• [53]Tabareau-Delalande F, Collin C, Gomez-Brouchet A, Decouvelaere AV, Bouvier C, Larousserie F, Marie B, Delfour C, Aubert S, Rosset P, de Muret A, Pages JC, de Pinieux G: 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. Modern Pathol 2013, 26:911-921.
• [54]Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceicao Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV: Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol 2006, 64:299-306.
• [55]Sarquis MS, Silveira LG, Pimenta FJ, Dias EP, Teh BT, Friedman E, Gomez RS, Tavares GC, Eng C, De Marco L: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Surgery 2008, 143:630-640.
• [56]Guarnieri V, Bisceglia M, Bonfitto N, Cetani F, Marcocci C, Minisola S, Battista C, Chiodini I, Cole DE, Scillitani A: Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Surgery 2008, 144:839-840.
• [57]McCarthy EF: Fibro-osseous lesions of the maxillofacial bones. Head Neck Pathol 2013, 7:5-10.
• [58]Summerlin DJ, Tomich CE: Focal cemento-osseous dysplasia: a clinicopathologic study of 221 cases. Oral Surg Oral Med Oral Pathol 1994, 78:611-620.
• [59]Su L, Weathers DR, Waldron CA: Distinguishing features of focal cemento-osseous dysplasia and cemento-ossifying fibromas: II. A clinical and radiologic spectrum of 316 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997, 84:540-549.
• [60]Gunduz K, Avsever H, Karacayli U, Senel B, Piskin B: Florid cemento-osseous dysplasia: a case report. Braz Dent J 2009, 20:347-350.
• [61]Coleman H, Altini M, Kieser J, Nissenbaum M: Familial florid cemento-osseous dysplasia–a case report and review of the literature. J Dent Assoc S Afr 1996, 51:766-770.
• [62]Toffanin A, Benetti R, Manconi R: Familial florid cemento-osseous dysplasia: a case report. J Oral Maxillofac Surg 2000, 58:1440-1446.
• [63]Abdelsayed RA, Eversole LR, Singh BS, Scarbrough FE: Gigantiform cementoma: clinicopathologic presentation of 3 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001, 91:438-444.
• [64]Shah S, Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC: Follow-up CT findings of recurrent familial gigantiform cementoma of a female child. Skelet Radiol 2012, 41:341-346.
• [65]Capodiferro S, Maiorano E, Giardina C, Lacaita MG, Lo Muzio L, Favia G: Osteoblastoma of the mandible: clinicopathologic study of four cases and literature review. Head Neck 2005, 27:616-621.
• [66]Hammas N, Laila C, Youssef ALM, Hind EF, Harmouch T, Siham T, Afaf A: Can p63 serve as a biomarker for giant cell tumor of bone? A Moroccan experience. Diagn Pathol 2012, 7:130. BioMed Central Full Text
• [67]Jain D, Jain VK, Vasishta RK, Ranjan P, Kumar Y: Adamantinoma: a clinicopathological review and update. Diagn Pathol 2008, 3:8. BioMed Central Full Text
• [68]Armah HB, McGough RL, Goodman MA, Gollin SM, Surti U, Parwani AV, Rao U: Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites. Diagn Pathol 2007, 2:44. BioMed Central Full Text