First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst

Toferer, Astrid; Truschnegg, Astrid; Kashofer, Karl; Beham-Schmid, C.; Beham, Alfred

doi:10.1186/s13000-021-01160-w

Cited by 2 publications

(2 citation statements)

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“…Next-generation sequencing of craniofacial ossifying fibroma revealed alterations in FOS, FOSB, COL1A1, and TBX3 genes [19]. SATB2 translocations and SETD2 mutation have been reported in psammomatoid juvenile ossifying fibroma [20,21]. Mutations in ANO5 have been described in gigantiform cementoma [22], and recently, mutations of BRAF, HRAS, KRAS, NRAS, and FGFR3 were described in COD [4].…”

Section: Discussionmentioning

confidence: 98%

Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Decolibus,

Shahrabi-Farahani,

Brar

et al. 2023

Dentistry Journal

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Cemento-osseous dysplasia (COD) is a form of benign fibro-osseous lesion of the jaw. We sought to evaluate the demographic and clinical presentations of COD by collecting and analyzing the demographic, clinical, radiographic, and pathologic data of COD diagnosed in our institution from 2017 to 2022. Over this six-year period, the records of 191 patients with COD were reviewed. Most patients were African American and female. Eighty-five patients were diagnosed with florid COD (FLCOD), 63 with periapical COD (PCOD), and 43 with focal COD (FCOD). Twenty-eight (14.7%) patients presented symptoms. The most common symptom was pain. All the symptomatic cases of COD that were histopathologically diagnosed were osteomyelitis in the setting of COD. Symptomatic patients were older (mean of 61.3 years) than the asymptomatic patients (mean of 51.2 years). Due to the radiographic appearance of a radiolucency or a mixture of radiolucency and radiopacity, forty-five asymptomatic patients were biopsied. Most of the asymptomatic patients biopsied were patients with FCOD (n = 19, 54.3%), followed by PCOD (n = 16, 25.8%), and FLCOD (n = 10, 15.2%). FLCOD is the most common form of COD to present with symptoms. Due to the significant overlap in clinical and radiographic presentation with other entities, FCOD and PCOD remain a diagnostic challenge to dentists. In conclusion, we analyzed the demographic and clinical features of 191 new cases of COD, which reaffirms that cemento-osseous dysplasia is a condition that primarily affects middle-aged females of African descent and occurs more frequently in the mandible.

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Section: Discussionmentioning

confidence: 98%

Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Decolibus,

Shahrabi-Farahani,

Brar

et al. 2023

Dentistry Journal

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“…Mutations of the SETD2 gene have been found in a variety of malignant tumors, including pancreatic and renal carcinomas. 20 Whether SETD2 mutations are a recurrent genetic finding in PsOF remains to be elucidated because this was detected only in 1 case of PsOF. We did not find evidence of SETD2 mutation in our PsOF index cases L6867 and L6605.…”

Section: Discussionmentioning

confidence: 99%