Psammomatoid Ossifying Fibroma Is Defined by SATB2 Rearrangement

Cleven, Arjen H.G.; Szuhai, Károly; IJzendoorn, David G.P. van; Groen, Eline; Baelde, Hans J.; Schreuder, Willem H.; Bruijn, Inge H. Briaire-de; Meeren, Stijn W. van der; Kleijwegt, Maarten; Furth, Wouter R. van; Kroon, Herman M.; Suurmeijer, Albert J.H.; Savci-Heijink, Dilara C.; Baumhoer, Daniel; Bovée, Judith V.M.G.

doi:10.1016/j.modpat.2022.100013

Cited by 6 publications

(9 citation statements)

References 19 publications

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“…Few other pathogenic molecular alterations have been reported in OF. These include CDC73 mutation in patients with HPT-JT syndrome [8] and SATB2 rearrangement in JPOF [14,15]. To our knowledge, this is the first study to perform comprehensive genomic profiling of a group of well-characterized OF.…”

Section: Discussionmentioning

confidence: 97%

“…Little is known about gene rearrangements in OF. Cytogenetic findings in three cases of JPOF revealed the presence of chromosomal breakpoints occurring at bands 2q33 and Xq26 corresponding to a recurrent gene fusion between SATB2 located on chromosome 2q33.1 and AL513487.1 located on chromosome Xq26 [14,15]. A separate study of 20 non-odontogenic OF detected no fusion transcripts using ArcherPlex [16].…”

Section: Introductionmentioning

confidence: 94%

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Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing

Bahceci

Grenert

Jordan

et al. 2023

Head and Neck Pathol

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Background Ossifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly unknown. There are a few known pathogenic abnormalities in OF, including HRPT2 mutations in conventional OF and SATB2 translocations in juvenile psammomatoid OF. On the other hand, conflicting reports exist regarding MDM2 gene amplification and chromosomal copy number alterations (CNA) in OF. Methods Surgically removed biopsies and curettage specimens from OF patients were obtained. Clinical, radiographic, and pathologic features of tumors were reviewed. Genomic DNA was extracted from formalin-fixed, paraffin-embedded blocks of tumor tissue. Capture-based DNA next-generation sequencing targeting the coding regions 529 cancer genes and select introns was performed. ResultsWe identified 17 OF cases from 8 male and 8 female patients with mean age of 22 years (range 1-58 years). Nine case occurred in the gnathic bones and 8 in the extragnathic craniofacial bones. These cases included 3 juvenile psammomatoid OF, 6 conventional OF and 8 juvenile trabecular OF. Large-scale CNAs were present in 6 of 17 cases. Seven cases (41%) had focal amplifications including FOSB (n = 2, 11%), FOS (n = 4, 23%), COL1A1 (n = 4, 23%) and TBX3 (n = 5, 29%). Three cases (17%) had pathogenic CDC73 mutations. No cases showed focal MDM2 amplification. Conclusions Here, we provided a comprehensive molecular characterization of OF that reveals a heterogeneous genetic profile with occasional large-scale CNAs (n = 6, 35%). FOS, FOSB, and TBX3 genes that regulate AP-1 transcriptional complex are frequently altered in OF (n = 7, 41%), chiefly in juvenile trabecular OF. These genes encode transcription factors that act as downstream effectors of the MAP kinase signaling pathway. MDM2 amplification is an exceedingly rare event in OF, if present at all, so identification of this event should continue to raise concern for low-grade gnathic osteosarcoma. In summary, our findings suggest that OF represents a heterogeneous group of tumors at the genetic level but dysregulation of the AP-1 pathway may play a role in pathogenesis of juvenile trabecular OF.

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Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 94%

Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing

Bahceci

Grenert

Jordan

et al. 2023

Head and Neck Pathol

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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: 99%

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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“…4 Additional pathoses, such as secondary simple bone cyst or aneurysmal bone cyst formation, as well as osteomyelitis can also alter the typical clinical and radiographic features and raise concerns. 4,17 Awareness of the described secondary pathologic processes and continued monitoring of FD is ideal when managing these patients.…”

Section: Benign Fibro-osseous Lesionsmentioning

confidence: 99%

“…16 Additionally, SATB2 gene rearrangement was found in 50% (7/14) of evaluable PsOF cases but not in JTOF or COF. 17…”

Section: Psammomatoid Ossifying Fibroma (Psof)mentioning

confidence: 99%

Pediatric Gnathic Bony and Mesenchymal Tumors

Liu

Smith²,

Patel

et al. 2023

Pediatr Dev Pathol

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Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.

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Psammomatoid Ossifying Fibroma Is Defined by SATB2 Rearrangement

Cited by 6 publications

References 19 publications

Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing

Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing

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

Pediatric Gnathic Bony and Mesenchymal Tumors

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