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Gigantiform cementoma(FGC)

MedGen UID:
501159
Concept ID:
C3495361
Neoplastic Process
Synonyms: CEMENTAL DYSPLASIA, PERIAPICAL; CEMENTOMAS, FAMILIAL MULTIPLE; Familial ossifying fibroma; GIGANTIFORM CEMENTOMA, FAMILIAL
SNOMED CT: Gigantiform cementoma (63937004); Familial multiple cementoma (63937004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007660
OMIM®: 137575
Orphanet: ORPHA435329

Definition

Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by Finical et al., 1999). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma (Moshref et al., 2008; Wang et al., 2015). [from OMIM]

Clinical features

From HPO
Cementoma
MedGen UID:
2942
Concept ID:
C0007659
Neoplastic Process
An odontogenic tumor of the cementum of tooth.
Impacted teeth, multiple
MedGen UID:
327004
Concept ID:
C1839965
Finding
The presence of multiple impacted teeth.
Tooth malposition
MedGen UID:
377692
Concept ID:
C1852504
Finding
Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGigantiform cementoma

Professional guidelines

PubMed

Mainville GN, Turgeon DP, Kauzman A
Oral Dis 2017 May;23(4):440-450. Epub 2016 Aug 1 doi: 10.1111/odi.12531. PMID: 27387498

Recent clinical studies

Etiology

Rezende DDSDM, Souza LL, Uchôa DCC, Fernandes LA, Lemos JGR, Santos-Silva AR, Lopes MA, Arboleda LPA, Rocha AC, Gonçalves FLN, Pontes FSC, Fonseca FP, Pontes HAR
Braz Oral Res 2023;37:e011. Epub 2023 Feb 13 doi: 10.1590/1807-3107bor-2023.vol37.0011. PMID: 36790252
Mainville GN, Turgeon DP, Kauzman A
Oral Dis 2017 May;23(4):440-450. Epub 2016 Aug 1 doi: 10.1111/odi.12531. PMID: 27387498
Ma C, Wang H, He G, Qin X
Medicine (Baltimore) 2016 Mar;95(9):e2956. doi: 10.1097/MD.0000000000002956. PMID: 26945411Free PMC Article
Shah S, Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC
Skeletal Radiol 2012 Mar;41(3):341-6. Epub 2011 Aug 10 doi: 10.1007/s00256-011-1245-9. PMID: 21830054
Thompson SH, Altini M
Head Neck 1989 Nov-Dec;11(6):538-44. doi: 10.1002/hed.2880110612. PMID: 2584009

Diagnosis

Zhou Z, Zhang Y, Zhu L, Cui Y, Gao Y, Zhou CX
Mol Genet Genomic Med 2024 Jan;12(1):e2277. Epub 2023 Aug 30 doi: 10.1002/mgg3.2277. PMID: 37649308Free PMC Article
Wang HW, Ma CY, Qin XJ, Zhang CP
Medicine (Baltimore) 2017 Dec;96(50):e9138. doi: 10.1097/MD.0000000000009138. PMID: 29390315Free PMC Article
Mainville GN, Turgeon DP, Kauzman A
Oral Dis 2017 May;23(4):440-450. Epub 2016 Aug 1 doi: 10.1111/odi.12531. PMID: 27387498
Raubenheimer EJ, Noffke CE, Boy SC
Head Neck Pathol 2016 Dec;10(4):437-443. Epub 2016 May 9 doi: 10.1007/s12105-016-0720-y. PMID: 27161103Free PMC Article
MacDonald-Jankowski DS
Clin Radiol 1992 May;45(5):316-8. doi: 10.1016/s0009-9260(05)80082-0. PMID: 1516340

Prognosis

Friedrich RE, Reul A
Anticancer Res 2018 Apr;38(4):2277-2284. doi: 10.21873/anticanres.12472. PMID: 29599350
Kucukkurt S, Rzayev S, Baris E, Atac MS
BMJ Case Rep 2016 Mar 30;2016 doi: 10.1136/bcr-2015-214162. PMID: 27030456Free PMC Article
Ma C, Wang H, He G, Qin X
Medicine (Baltimore) 2016 Mar;95(9):e2956. doi: 10.1097/MD.0000000000002956. PMID: 26945411Free PMC Article
Shah S, Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC
Skeletal Radiol 2012 Mar;41(3):341-6. Epub 2011 Aug 10 doi: 10.1007/s00256-011-1245-9. PMID: 21830054
Cohn HC, MacPherson TA, Barnes L, Kennerdell JS
Ann Ophthalmol 1982 Feb;14(2):173-5. PMID: 7092025

Clinical prediction guides

Khan S, Gautam N, Sharma T, Pooja SD
J Cancer Res Ther 2024 Jan 1;20(1):441-444. Epub 2023 Apr 7 doi: 10.4103/jcrt.jcrt_1757_22. PMID: 38554359
Kucukkurt S, Rzayev S, Baris E, Atac MS
BMJ Case Rep 2016 Mar 30;2016 doi: 10.1136/bcr-2015-214162. PMID: 27030456Free PMC Article
Ma C, Wang H, He G, Qin X
Medicine (Baltimore) 2016 Mar;95(9):e2956. doi: 10.1097/MD.0000000000002956. PMID: 26945411Free PMC Article
Shah S, Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC
Skeletal Radiol 2012 Mar;41(3):341-6. Epub 2011 Aug 10 doi: 10.1007/s00256-011-1245-9. PMID: 21830054
Matsuzaka K, Shimono M, Uchiyama T, Noma H, Inoue T
Bull Tokyo Dent Coll 2002 Aug;43(3):173-80. doi: 10.2209/tdcpublication.43.173. PMID: 12455236

Recent systematic reviews

Wang HW, Ma CY, Qin XJ, Zhang CP
Medicine (Baltimore) 2017 Dec;96(50):e9138. doi: 10.1097/MD.0000000000009138. PMID: 29390315Free PMC Article

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