Familial Gigantiform Cementoma

Ma, Chunyue; Wang, Hongwei; He, Guo‐Wei; Qin, Xiaoqun

doi:10.1097/md.0000000000002956

Cited by 9 publications

(5 citation statements)

References 15 publications

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“…After searching PubMed, we found that since the first publication in 1953, there appears to have been a total of 55 cases, which most commonly appeared in Asia. [ 1 – 7 , 11 , 12 ] This was followed by North America. FGC typically presents in the first or second decade of life, with a predilection for Asian and Caucasian ethnicities.…”

Section: Discussionmentioning

confidence: 99%

“…Our literature review demonstrates that 19 patients underwent surgical resection, in most instances a partial excision. [ 1 – 7 , 11 , 12 ] But simple recontouring of the lesions or incomplete removal accelerates the growth of the residual lesion and leads to recurrence. [ 1 , 4 , 5 , 12 ] In the case of a 6-year-old child, cosmetic shaving of the maxilla resulted only in regrowth of the lesion at an accelerated rate.…”

Section: Discussionmentioning

confidence: 99%

“…To date, facial bone reconstruction was performed in 4 FGC patients (exclude our patient). [ 2 , 7 ] Three of them had their maxillary lesions resected. The defects of maxilla, nose, and orbit were reconstructed with autologous rib bone grafts.…”

Section: Discussionmentioning

confidence: 99%

“…We also noted that, the majority of FGC patients also had lesions in bones other than the jaw. [ 3 , 4 , 6 , 7 ] Their histories included prepubertal pathologic fractures of the long bones, which limited the available sources of graft bones for reconstruction of the facial skeleton. On the other hand, the rates of success and complications involving the transplanted vascularized iliac crest flaps were not significantly different from those seen with other microvascular bone transplants.…”

Section: Introductionmentioning

confidence: 99%

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Management strategy in patient with familial gigantiform cementoma

Wang

Ma²,

Qin³

et al. 2017

Medicine

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Rationale:Familial gigantiform cementoma (FGC) is a rare benign autosomal dominant fibrocemento-osseous lesion generally limited to the facial bones, typically in the anterior portion of the mandible; it is often associated with abnormalities of the long bones and prepubertal pathologic fractures. Owing to the small number of such patients, a uniform treatment criterion has not been established. This paper presents a patient with FGC who was treated in our department, and offers a systematic review of the patients reported in the literature. Our aim was to explore the treatment strategy for patients with FGC.Patient concerns:Our patient, a 13-year-old boy, presented with a painless enlargement of the mandible first noted 2 years earlier. It had grown rapidly over the preceding 8 months, affecting both his appearance and ability to chew.Diagnosis:Based on the pathologic, clinical, and radiographic features, FGC was diagnosed.Interventions:Mandibuloectomy was performed. The mandibular defect was immediately reconstructed with his right vascularized iliac crest flap. At the same time, a PubMed search was conducted to identify studies reporting on other patients with FGC.Outcomes:A 3-dimensional computed tomography (3D-CT) scan demonstrated appropriate height of the new alveolar bone. Follow-up results showed recovery of the patient's appearance and mandibular function. He was free of recurrence at 4-year follow-up.Lessons:FGC is a rare benign fibrocemento-osseous lesion of the jaws that can cause severe facial deformity. Incomplete removal leads to more rapid growth of the residual lesion. Therefore, extensive resection is a suitable strategy to avoid recurrence. Defects of the facial bones found intraoperatively should be repaired with resort to an appropriate donor site. However, it is important to be aware that patients with FGC always have concomitant abnormalities of skeletal metabolism and structure, as well as a vulnerability to fractures of the long bones of the lower extremity. Therefore, the optimal management strategy should include a review of treatment options for other patients as reported in the literature. An optimal protocol can not only provide sufficient high-quality bone suitable for the reconstruction of bone defects, but also minimize complications and maximize quality of life.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Management strategy in patient with familial gigantiform cementoma

Wang

Ma²,

Qin³

et al. 2017

Medicine

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“…Histopathologically, it is highly similar to cemento‐ossifying fibroma; cementum‐like calcified deposits are scattered within a fibroblastic stroma, and the proportion of cellular components, size, and the number of calcified deposits are variable (Abdelsayed et al, 2001). Some FGC cases are accompanied by increased bone fragility in the lower extremities and frequent diaphyseal fractures (Ma et al, 2016; Moshref et al, 2008; Rossbach et al, 2005). FCG is a familial autosomal dominant disease; however, some sporadic cases without known heritable features have been described (Eversole et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

Zhou,

Zhang,

Zhu

et al. 2023

Molec Gen & Gen Med

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BackgroundFamilial gigantiform cementoma (FGC) is a rare tumor characterized by the early onset of multi‐quadrant fibro‐osseous lesions in the jaws, causing severe maxillofacial deformities. Its clinicopathological features overlap with those of other benign fibro‐osseous lesions. FGC eventually exhibits progressively rapid growth, but no suspected causative gene has been identified.MethodsIn this study, three patients with FGC were recruited, and genomic DNA from the tumor tissue and peripheral blood was extracted for whole‐exome sequencing.ResultsResults showed that all three patients harbored the heterozygous mutation c.1067G > A (p.Cys356Tyr) in the ANO5 gene. Furthermore, autosomal dominant mutations in ANO5 at this locus have been identified in patients with gnathodiaphyseal dysplasia (GDD) and are considered a potential causative agent, suggesting a genetic association between FGC and GDD. In addition, multifocal fibrous bone lesions with similar clinical presentations were detected, including five cases of florid cemento‐osseous dysplasia, five cases of polyostotic fibrous dysplasia, and eight cases of juvenile ossifying fibromas; however, none of them harbored mutations in the ANO5 gene.ConclusionOur findings indicate that FGC may be an atypical variant of GDD, providing evidence for the feasibility of ANO5 gene testing as an auxiliary diagnostic method for complex cases with multiple quadrants.

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