A Pattern-based Imaging Approach to Pediatric Jaw Lesions

Sahu, Biswanath; Anand, Rama; Kumar, Sandeep; Solanki, RS; Mehra, Pravesh

doi:10.1055/s-0041-1729767

Cited by 4 publications

(3 citation statements)

References 33 publications

(157 reference statements)

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“…7 Furthermore, due to less mass of the mandible as a typical flat bone, onionskin-like appearance is not seen. 10 Our case presented with painful left cheek swelling and a mass eroding mandible with suspicion of parotid gland tumor was detected on MRI.…”

Section: Discussionmentioning

confidence: 78%

Ewing sarcoma of the mandible: A rare case report and literature review

Gündoğar,

Komut,

Bektaş

et al. 2024

Diagnostic Cytopathology

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Ewing sarcoma (ES) usually arises from long bones and affects the head and neck region in only 1%–4% of cases. We reported clinical, radiographic, cytomorphologic, and histomorphologic findings of the ES in the mandible, because of its rarity and radiologically misinterpreted as a parotid gland tumor. A 26‐year‐old male patient presented with a history of painfull cheek swelling. On magnetic resonance imaging, a mass measuring 50 × 48 × 45 mm was found eroding mandible and pushing back the parotid gland. Aspiration cytology was performed with suspicion of parotid gland tumor. Small, nucleated cells with nuclear indentation, inconspicuous nucleoli, and occasionally rosette‐like arrangement were observed. Neuroendocrine immune markers were positive on cell block. It was diagnosed as small round cell neoplasm with neuroendocrine differentiation and biopsy was suggested. The differential diagnosis considered soft tissue and parotid gland tumors. The small round cell tumor morphology was seen on biopsy specimen and immunostaining was applied. The diagnosis for this case was ES of the mandible. ES of the mandible is unusual. Although the histogenesis is still unknown, various cells have been proposed as cells of origin namely, endothelial, hematopoietic, fibroblastic, mesenchymal stem cells or neural derived mesenchymal stem cells. Small cell morphology, CD99, CD56, neuron specific enolase, and synaptophysin expressions confirmed the diagnosis of ES. The differentiation of the ES from other small cell tumors may be difficult and requires awareness for histological and immunohistochemical features. It should be kept in mind that the diagnosis can be challenging due to uncommon locations and radiological misinterpreted.

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Section: Discussionmentioning

confidence: 78%

Ewing sarcoma of the mandible: A rare case report and literature review

Gündoğar,

Komut,

Bektaş

et al. 2024

Diagnostic Cytopathology

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“…structures. 6 The excellent depiction of calcium by CT allows for detection of tumor mineralization and periosteal reactions, which may aid in the diagnosis and response assessment of cartilaginous or ossifying tumors.…”

Section: Ctmentioning

confidence: 99%

“…Nevertheless, there are certain tumors that uniquely benefit from CT imaging, namely those involving the maxilla, mandible, and paranasal sinuses. The intrinsic contrast of the jaws, teeth, and sinus walls relative to soft tissues and air, combined with the high spatial resolution and short acquisition times of CT, produce high‐quality images of these maxillofacial osseous structures 6 . The excellent depiction of calcium by CT allows for detection of tumor mineralization and periosteal reactions, which may aid in the diagnosis and response assessment of cartilaginous or ossifying tumors.…”

Section: Imaging Modalities and Relevance To Head And Neck Tumorsmentioning

confidence: 99%

Imaging of pediatric head and neck tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee/ASPNR White Paper

Abramson

Nagaraj

Lai

et al. 2022

Pediatric Blood & Cancer

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Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient

Sarantou,

Marinakis,

Traeger-Synodinos

et al. 2024

Mol Biol Rep

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Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder typified by various combination of numerous Café-au-lait macules, cutaneous and plexiform neurofibromas, freckling of inguinal or axillary region, optic glioma, Lisch nodules and osseous lesions. Cherubism is a rare genetic syndrome described by progressive swelling of the lower and/or upper jaw due to replacement of bone by fibrous connective tissue. Patients are reported in the literature with NF1 and cherubism-like phenotype due to the NF1 osseous lesions in the jaws. The purpose of this case report is the description of a young male genetically diagnosed with both NF1 and cherubism. Methods and results A 9 years and six month old patient with clinical findings of NF1 and cherubism in whom both diseases were genetically confirmed, is presented. The patient was evaluated by a pediatrician, a pediatric endocrinologist, an ophthalmologist, and an oral and maxillofacial surgeon. A laboratory and hormonal screening, a histological examination, a chest X-ray, a magnetic resonance imaging (MRI) of the orbit and a digital panoramic radiography were performed. Genetic testing applying Whole Exome Sequencing was conducted. Conclusions A novel and an already reported pathogenic variants were detected in NF1 and SH3BP2 genes, respectively. This is the first described patient with coexistence of NF1 and cherubism. The contribution of Next Generation Sequencing (NGS) in gene variant identification as well as the importance of close collaboration between laboratory scientists and clinicians, is highlighted. Both are essential for optimizing the diagnostic approach of patients with a complex phenotype.

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A Pattern-based Imaging Approach to Pediatric Jaw Lesions

Cited by 4 publications

References 33 publications

Ewing sarcoma of the mandible: A rare case report and literature review

Ewing sarcoma of the mandible: A rare case report and literature review

Imaging of pediatric head and neck tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee/ASPNR White Paper

Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient

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