Whole-exome sequencing and copy number alterations analysis in a case of expansive florid cemento-osseous dysplasia.

Whole-exome sequencing (WES) analysis of an expansive case florid cemento-osseus dysplasia were reported for the first time. Also, the new potential candidate genes were reported to expand our knowledge about their molecular pathogenesis. Abstract: We report a case of expansive florid cemento-osseus dysplasia in a 32-year-old female patient who presented an expansive tumoral lesion in the anterior mandible. As florid cemento-osseus dysplasia have only been molecularly investigated using targeted-sequencing, fragments of the lesion were collected and subjected to molecular investigation using WES to assess somatic mutations as well as copy number alterations. No gains and losses of chromosomal arms or segments longer than 1 Mb were detected. Our findings revealed a pathogenic stopgain variant at the KIF5C gene, a stoploss variant at MAPK10, and missense SNV at COL6A2 at DCDC1, suggesting potential candidate genes associated with florid cemento-osseus dysplasia.

Assessment of MDM2 Gene Locus Amplification by Fluorescence In-Situ Hybridization in Juvenile Ossifying Fibroma.

Juvenile ossifying fibroma (JOF) is an uncommon benign fibro-osseous lesion (BFOL) of the maxillofacial bones with a locally aggressive nature and a high recurrence rate. Murine Double Minute 2 (MDM2) is an oncogene located at chromosome 12 (12q13-15) that inhibits the tumor suppressor gene TP53. The presence of MDM2 gene locus amplification is a useful molecular adjunct in the evaluation of some sarcomas, including low-grade intramedullary osteosarcoma (LGIOS). JOF and LGIOS have some overlapping clinical and histopathological features. The aim of this study is to evaluate a series of JOF for the presence of MDM2 gene locus amplification using fluorescence in-situ hybridization (FISH). MATERIALS AND METHODS: With IRB approval, a search of the institutional files of the archives of the Oral Pathology and Surgical Pathology biopsy services at the University of Florida Health was performed. The cases were re-evaluated by an oral pathology resident, an oral and maxillofacial pathologist, and a bone and soft tissue pathologist. Cases with consensus in diagnosis were selected (n = 9) for MDM2 testing. Testing by FISH for MDM2 gene locus amplification was applied to all retrieved cases. RESULTS: The examined cases were all negative for MDM2 gene locus amplification via FISH testing. CONCLUSION: In our small series, JOF did not demonstrate MDM2 gene locus abnormality, a characteristic of LGIOS. This finding suggests that JOF has a distinct underlying pathogenesis. If confirmed in a larger series, these findings may be useful in distinguishing these two entities in cases with overlapping features or when minimal biopsy material is available.

Benign fibro-osseous lesions: A retrospective study of sixty-four cases from a single institute, Riyadh, Saudi Arabia.

Objective: Benign fibroosseous lesions (BFOLs) encompass a heterogenous collection of bone conditions characterized by replacing normal bone with fibro-collagenous tissue with osteoid or woven bone, and cementicles. Despite their clinical significance, the frequency of BFOLs in Saudi Arabia still needs to be assessed. Methods: This retrospective study investigated the frequency and demographics of BFOLs in Riyadh, Saudi Arabia, by retrieving all cases recorded between January 1984 and January 2013 from a single Oral Pathology Laboratory archive. Results: A total of 64 cases were classified as BFOLs, with a predominance in females (67.2 %) and a median age of 21.5 years. The most prevalent condition identified was fibrous dysplasia (45.31 %), followed by cemento-ossifying fibroma (26.56 %). There were significant sex differences between BFOLs, with a p-value of 0.03. FD was predominantly located in the maxilla (65.5 %), whereas COF was predominantly found in the mandible (82.3 %). Recurrence was observed in 17.2 % of patients with FD, in contrast to no reported recurrence in patients with COF. Conclusion: This study represents the first exploration of BFOL frequency and demographics in Riyadh, Saudi Arabia, highlighting the need for further investigations to comprehensively understand the nature of these lesions in our population.

Unraveling Cherubism: Examining the Classical "Eye to Heaven" Phenomenon.

Cherubism, an infrequent disorder with paramount autosomal importance, predominantly targets the mandible, with occasional involvement of the maxilla. Manifesting in childhood, it typically improves over time but never fully resolves in adulthood. Clinically, it presents as a uniform enlargement of the bones, and when the upper jaw is involved, it can create a cherub-like appearance with exposure to the sclera. As the volume grows, it can cause symptoms such as dental misalignment, delayed tooth eruption, speech difficulties, and tooth loss, in addition to psychological and cosmetic effects that require medical attention. The disorder progresses naturally in youngsters, exhibiting phases of expansion, stabilization, and regression. Cherubism initially is encountered in early childhood, reaches its peak during early years, balances out around puberty, and then steadily recedes after that. We describe the example of a male patient, age 20, who sought correction due to worries about his appearance. He had a bilateral mandibular angle and malar edema. The patient's aesthetic discontent was satisfactorily resolved with surgical intervention, and further pharmaceutical therapy was implemented during follow-up visits.

Maxillofacial Bone Involvement in Fibro-Osseous Lesions: Emphasizing the Significance of Differential Diagnosis.

The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment paradigms by integrating novel molecular insights. Fibro-osseous lesions of the maxillo-facial bones constitute a heterogeneous group encompassing fibrous dysplasia, Psammomatoid Ossifying Fibroma (PSOF), Juvenile Trabecular Ossifying Fibroma (JTOF), and other variants. Despite histological similarities, their distinct clinical manifestations and prognostic implications mandate precise differentiation. The intricacies of diagnosing fibro-osseous lesions pose challenges for pathologists, maxillofacial surgeons, dentists and oral surgeons, underscoring the importance of a systematic approach to ensure optimal patient management. Herein, we present two cases, fibrous dysplasia and Cemento-Ossifying Fibroma, detailing their clinical encounters and management strategies. Both patients provided informed consent for publishing their data and images, adhering to ethical guidelines.

Craniomaxillofacial Fibro-osseous Lesions in Children.

Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of irregular, woven bone. They are more commonly diagnosed in young people, with treatment strategies dependent on clinical behavior and skeletal maturity. This article discusses the examples of craniofacial fibro-osseous lesions, based on the latest classifications, along with their diagnostic criteria and management.

Management of ossifying fibroma of the bone of the maxilla: a case report and review of the literature.

Ossifying fibroma (OF) is a slow-growing benign fibro-osseous neoplasm. It is mostly odontogenic in origin, and it arises in the jaws, particularly the mandible. OF is characterized by the production of bone and cementum-like calcifications in a fibrous stroma. OF reports of the bone of the maxilla are uncommon. Diagnosing OF can be challenging due to the considerable overlap of clinico-pathological characteristics with those of other neoplasms. Herein, the authors describe a case report OF in a 26-year-old male who presented with a huge fibro-osseous tumor of the maxilla. Histopathology established the diagnosis of maxillary OF. The tumor was surgically removed via a Weber-erguson approach with satisfactory functional and cosmetic results. No recurrence has been found after one year of follow-up. Clinical, radiological, and pathological characteristics, as well as surgical treatment approaches, are further discussed. This is one of a few documented cases of maxillary OF in our setting.

Lesions Misdiagnosed as Endodontic Pathosis: A Narrative Review.

In daily practice, clinicians come across certain radiographic abnormalities which may or may not be asymptomatic. This abstract discusses radiographic abnormalities encountered by clinicians in daily practice, some of which resemble endodontic lesions. Prompt attention is crucial as these lesions can be benign or malignant. The article emphasizes the importance of differential diagnosis for accurate identification of periapical pathosis.

Cherubism Unmasked: A Case Report of Clinical and Histopathological Presentation.

Cherubism, an uncommon genetic disorder, manifests as painless swelling in both jaws. A 20-year-old male presented with symmetrical swelling in both the mandible and maxilla. The jaws exhibited bilateral expansion, typical of this condition. Dentofacial abnormalities associated with cherubism stem from mutations in the SH3BP2 gene, which plays a crucial role in regulating osteoblasts and osteoclasts. In summary, cherubism is a genetic disorder characterized by non-cancerous jaw bone lesions. Surgical intervention may be necessary for functional or aesthetic concerns.

Exploring a rare case of juvenile psammomatoid ossifying fibroma in the ethmoid: a case study and review.

Juvenile ossifying fibroma (JOF) and its variants, including juvenile psammomatoid ossifying fibroma (JPOF), represent rare yet clinically significant benign fibro-osseous lesions that primarily occur in children and young adolescents. They can be found in diverse anatomical sites such as the jaw, nasal cavity, paranasal sinuses, and orbit. JOF exhibits an aggressive nature, necessitating early radiological detection and surgical intervention. Similarly, JPOF, with a locally malignant potential, requires surgical removal, typically conducted through endoscopic approaches. We report a case of a 5-year-old girl with JPOF arising in the ethmoid, revealed by recurrent epistaxis and proptosis. The text emphasizes the importance of early diagnosis through histopathology as a diagnostic tool and underscores the need for appropriate management.

A Case Series and Literature Review of Craniofacial Fibrous Dysplasia.

Craniofacial fibro-osseous lesions (CFOLs) are a diverse group of relatively rare entities whose etiology ranges from reactive to dysplastic with a potential for malignant transformation. It is distinguished by the replacement of bone with fibrous tissue, that subsequently develops different degrees of calcification. Fibrous dysplasia (FD) is a component of the fibro-osseous lesion spectrum. The clinical spectrum of FD is wide, ranging from minor monostotic lesions affecting a single bone to devastating polyostotic disease involving the entire skeleton. FD produces asymmetry, which impairs face aesthetics. FD leads to bone differentiation, disintegration, and disorganization. It depicts a cellular collagenous stroma lacking mitotic figures and pleomorphism. Blood capillaries are evenly distributed, as are elongated trabeculae of woven or lamellar bone with uneven curves (often referred to as the Chinese letters pattern). Three types of FD patterns can be identified by computed tomography (CT) imaging: a cystic pattern, a homogeneously dense pattern, and a ground-glass pattern. The cornerstone of treatment is surgery, although the method varies depending on the location, size, and symptoms of the lesion. As an alternative to surgery, the use of bisphosphonates to reduce osteoclastic activity is under consideration. In this case series, we present three cases of FD involving the maxilla and mandible. We aim to correlate the clinical presentation, histological features, and radiographic findings, to promote early diagnosis, treatment, and better prognosis of the patient.

A Novel Technique Using the Dorsal Capsule of the Distal Radioulnar Joint for Extensor Carpi Ulnaris Tendon Subsheath Reconstruction.

Background Ulnar-sided wrist pain is a common problem encountered by hand surgeons. Symptomatic recurrent subluxation of the extensor carpi ulnaris (ECU) tendon has become increasingly recognized as one of the pathological conditions leading to ulnar-sided wrist pain. Surgical reconstruction of the subsheath is usually needed. ECU tendon subsheath reconstruction with the periosteal flap was first described by Schlesinger in 1907. Since then, various other techniques have been widely used. We describe a technique of ECU subsheath reconstruction using the dorsal capsule of the distal radioulnar joint (DRUJ). Description of Technique Two hand surgeons performed the surgeries with the same steps taken each time. A detailed description of our surgical technique, with the dorsal capsule of the DRUJ used to reconstruct the ECU tendon subsheath, is illustrated. Patient and Methods Patients who presented with symptomatic ECU instability despite conservative treatment or who have failed primary subsheath repair were offered this surgical option. Patients were followed up postoperatively for an average duration of 6.7 months in our outpatient clinics for assessment of wrist function. The surgical outcomes were reviewed and graded with the Modified Mayo Wrist Score (MMWS). Results All but one of the seven patients had an overall improvement in their range of movement of the wrist, grip strength, and pain scores. Four patients had excellent outcomes on the MMWS, one of whom had an asymptomatic recurrence seen on dynamic ultrasound. Two patients required subsequent surgeries: one had an excellent outcome and the other had a poor outcome on the MMWS. Conclusion We present our first seven cases of ECU subsheath reconstruction with the dorsal capsule of the DRUJ. Our results in the short term have been satisfactory. The technique does not disrupt the integrity of the extensor retinaculum, which is essential for optimal extensor tendon function, and can also be considered as an option to salvage failed procedures.

Ossifying fibroma of the ethmoid and sphenoid sinuses: A report of a rare case and literature review.

Background: Fibro-osseous lesions include a variety of bone lesions with different clinical and histopathological features. Case Description: We report a case of cemento-ossifying lesion involving the left ethmoid and sphenoid sinus in a 17-year-old male patient. Computed tomography showed an expansile hyperdense lesion with sclerosed peripheral mantle epicentered on the left ethmoid and sphenoid sinus and extending into the left nasal cavity. Magnetic resonance imaging was done for preoperative planning. Transnasal endoscopic resection was performed and histopathological examination confirmed the diagnosis of ossifying fibroma (OF). Conclusion: Involvement of the ethmoid sinus with OF is a rare condition; therefore, we examined the literature for similar cases to highlight the possible clinical presentation and management. Endoscopic management is a safe, effective approach with a low rate of complications.

Jaw Fibro-Osseous Lesions: Use of a Predictive Index in Grading Probable Malignant Changes and a Review of Cases.

Statement of the Problem: Fibro-osseous lesions (FLs), may rarely exhibit malignant features likewise undergo malignant transformation. Awareness of these features can assist in screening for potentially malignant cases and identifying low-grade central osteogenic sarcoma (LGCOS) that may mimic FLs. Purpose: The objective of this study was to determine the usability of an index in predicting malignant changes in jaw FLs. Materials and Method: This was a retrospective study where hematoxylin and eosin (H&E) slides and archival records of fibrous dysplasia (FD) and ossifying fibroma (OF) cases were reviewed. The sections were assessed for permeation of marrow spaces, stromal growth pattern, cytologic atypia, mitotic activity, and pattern of bone growth, which are parameters for diagnosing LGCOS. The predictive histologic index of malignancy (PHIM) was determined by a sum of the scores and graded as 0=nil, 1=low, 2 & 3=moderate, and 4 & 5=high. Data were presented using descriptive analysis. Results: Ninety-three cases of FLs met the inclusion criteria, consisting of 40(43%) cases of FD and 53(57%) cases of OF. The peak age of presentation for FD and OF was 2nd and 3rd decade. There was a female preponderance of 1:1.6. The maxilla was the most common site affected by FD, while the mandible was most commonly affected by OF. For FD cases, the PHIM was moderate in 10(25%) cases and low in 21(52.5%) cases. Similarly, for OF cases, 30(56.6%) cases had low grade PHIM while 10(17%) cases had moderate grade PHIM. Conclusion: The PHIM depicted low to moderate malignancy grade in some of the cases studied. Follow up studies would be necessary to assess the PHIM.

[Fibro-osseous pseudotumor of the digits: One of USP6-related fibroblastic/myofibroblastic tumors]. / La pseudotumeur fibro-osseuse des doigts : une tumeur fibroblastique/myofibroblastique liée à USP6.

Fibro-osseous pseudotumor of the digits is a benign tumour closely related to myositis ossificans. It is a rare lesion seldom reported in the literature. We report the case of a 33-year-old woman with lancinating pain in the first phalanx of the second finger of the right hand, associated with inflammation. The histopathological examination of the surgical excision biopsy of the lesion revealed a spindle-shaped proliferation within a sclerosing, hyaline, and osteoid stroma. In our observation, immunohistochemistry and molecular biology are the main elements that helped to establish the diagnosis and eliminate the various differential diagnoses, despite a non-specific histopathological aspect.

Imaging of Fibro-osseous Lesions and Other Bone Conditions of the Jaws.

This review directs the focus on the imaging features of various fibro-osseous lesions and other bone lesions that can be of similar presentation. Broad diagnosis of "fibrous osseous lesion" may culminate in improper treatment and management. Radiographic discriminating factors between these entities are highlighted and summarized to improve the diagnostic process when encountering these lesions.

Ossifying fibroma of the maxilla: A case report with literature review.

Ossifying fibroma is a benign fibro-osseous lesion arising from the periodontal ligament cells. The lesion may progressively enlarge with the mass affecting the mandible or maxilla, resulting in facial deformities and tooth displacement despite its benign nature. Here, we presented a case of an 18-year-old female with ossifying fibroma in the maxilla extending to the maxillary sinus, infraorbital area, and skull base, resulting in considerable facial asymmetry. Since the primary treatment of ossifying fibroma is surgical resection, it is essential to determine the areas where the lesion has expanded, where a 3-dimensional computed tomography scan could play a critical role in providing such information. A complete surgical excision and histopathologic examination in treating this patient are crucial, made possible by a meticulous preoperative radio imaging technique.

Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.

Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.

Trapezium Tunnel Syndrome.

The trapezium tunnel is situated on the lateral side of the carpal tunnel, lined with synovial tissue, and accommodates the flexor carpi radialis tendon. Trapezium tunnel syndrome is characterized by flexor carpi radialis tendinitis/peritendinitis and may lead to complicated clinical scenarios, such as flexor carpi radialis tendon rupture and the formation of primary or recurrent ganglion cysts on the volar radial side of the wrist and thenar area. Notably, the simultaneous presence of trapezium tunnel syndrome might contribute to unsuccessful outcomes in carpal tunnel surgeries. Trapezium tunnel syndrome may arise from either intrinsic or extrinsic factors. The entity of trapezium tunnel syndrome has attracted a low index of clinical suspicion because the other causes of radial side wrist pain that are more prevalent and frequent. We present a narrative review of this condition in an endeavor to heighten awareness and clinical suspicion of trapezium tunnel syndrome.

Displasia Cemento Ósea Florida: Reporte de un caso

La Displasia Cemento Ósea Florida corresponde a un tipo de lesión fibro ósea caracterizada por presentar un hueso trabecular con apariencia de tejido conectivo fibroso con áreas similares al cemento radicular. Afecta principalmente a mandíbula, a mujeres y a personas de etnia africana entre la cuarta a la quinta década. Posee crecimiento limitado, presentación de forma simétrica, bilateral y capacidad de afectar de uno a más cuadrantes. Tiene tres etapas de desarrollo, que se presentan con aspecto radiográfico diferente. En la primera etapa se aprecia un área radiolúcida, en la segunda etapa se visualizan radiopacidades circunscritas al área radiolúcida; y en la tercera etapa se observa una clara radiopacidad alrededor de la lesión. Para su correcto diagnóstico se necesita una cuidadosa correlación de los hallazgos clínicos, imagenológicos, de laboratorio e histopatológicos. Se presenta el caso de una paciente de género femenino de 70 años diagnosticada con Displasia Cemento Ósea Florida.

Florid Cemento-Osseous Dysplasia is a type of fibro-osseous lesion characterized by a trabecular bone with the appearance of fibrous connective tissue with areas similar to root cement. It mainly affects the jaw, women and people of African ethnicity between the fourth and fifth decades. It has limited growth, a symmetrical, bilateral presentation and the ability to affect one or more quadrants. It has three stages of development, with different radiographic appearance. The first stage shows a radiolucent area, the second stage shows radiopacities circumscribed to the radiolucent area; and in the third stage a clear radiopacity is observed around the lesion. For its correct diagnosis, a careful correlation of clinical, imaging, laboratory and histopathological findings is needed. The case of a 70-year-old female patient diagnosed with Florid Cemento-Osseous Dysplasia is presented.