DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.

BACKGROUND: Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS. METHODS: In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing. RESULT: Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS. CONCLUSION: High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.

Desmoplastic fibroma of the pediatric cranium with CTNNB1 mutation: case report and literature review.

PURPOSE: Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature. CASE PRESENTATION: A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg). CONCLUSION: Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.

Melanotic neuroectodermal tumor of infancy arising in the skull: a case report.

Melanotic neuroectodermal tumor of infancy is a rare and usually benign neoplasm occurring in children of young age. This pigmented tumor typically presents in the head and neck region, but other locations may be involved. We report in this article a rare case of a 3-month-old girl presenting with a slowly growing mass localized in the anterior fontanelle. The patient's magnetic resonance imaging (MRI) showed a mass extending both extracranial and intracranial, and compressing the adjacent structures. The patient underwent subtotal resection of the mass and a histological study confirmed the diagnosis of melanotic neuroectodermal tumor of infancy. The patient presented later on with a recurrence. An early diagnosis and surgical management for these tumors remain the only guarantees to limit the progression and prevent their recurrence and metastasis.

Cemento-ossifying fibroma transforming to osteosarcoma.

Ossifying fibroma is a type of fibro-osseous lesion categorised into cemento-ossifying fibroma and juvenile ossifying fibroma. Malignant transformation of fibro-osseous lesions is documented especially for fibrous dysplasia, but scarcity is seen when we search for malignant transformation of ossifying fibroma. Thus, we are presenting an extremely rare case of cemento-ossifying fibroma transforming into osteosarcoma with long sequential radiographic details.

Single-port Endoscopic Removal of Forehead Osteoma: An Otolaryngologist's Procedure.

For otolaryngologists, single-port endoscopic removal of forehead osteoma draws upon a familiar skill set and is a robust technique for complete tumor removal with excellent cosmesis. Laryngoscope, 134:2194-2197, 2024.

[Primary intraosseous cavernous hemangioma of the cranium: a case report]. / Pervichnaya vnutrikostnaya kavernoznaya gemangioma kostei cherepa: obzor literatury i opisanie klinicheskogo nablyudeniya khirurgicheskogo lecheniya.

Primary intraosseous cavernous hemangioma (PICH) is a rare benign vascular tumor. This neoplasm is common in the spine and less common in skull. Toynbee J. first described this tumor in 1845. PICH of the cranium does not always have typical X-ray features and should be always differentiated with other more common skull lesions. Surgical resection is preferable since total resection is followed by favorable prognosis. We present a 65-year-old patient with asymptomatic tumor of the right parietal bone. CT revealed osteolytic lesion that required total resection and skull repair. Histopathological analysis revealed intraosseous cavernous hemangioma.

Spontaneous Regression of Ossifying Fibroma in the Oral and Maxillofacial Region: A Rare Case With 4-Year Follow-Up.

The case presented in this study is a rare instance of an ossifying fibroma (OF), a type of benign fibro-osseous lesions, spontaneously regressed without surgical intervention. A 9-year-old boy with an intraosseous lesion in the left maxilla was diagnosed as OF. The surgeon suggested surgical excision, but due to personal reasons, the patient and his parents deferred the surgery and opted for regular follow-up. During a 4-year follow-up, the surgeon found that the lesion had significantly decreased in size and the facial deformity had remitted. At the latest follow-up, the deformity of his left face became almost unnoticeable, and the lesion seemed to be subtle on cone-beam computed tomography images. This case highlights the possibility of spontaneous regression of OF. This phenomenon may occur due to the teeth eruption, which can lead to the formation of periodontal ligaments and engage the regression of OF.

Multiple primary intraosseous meningioma mimicking fibrous dysplasia: a case report.

Primary intraosseous meningioma (PIM) is a rare subtype of primary extradural meningiomas. These rare ectopic meningiomas have been usually reported in the frontotemporal regions of the calvarium, orbits, and anterior cranial fossa. We report a case with bilateral tumors located in frontoparietal regions of calvarium. Our initial diagnosis was fibrous dysplasia but the lesions were seen to expand under follow-up. One was resected and the histopathological diagnosis was PIM. This is the second reported case of multiple PIM.

Concomitant giant purely intradiploic cavernous haemangioma and multifocal neurotoxoplasmosis.

Purely calvarial or intradiploic cavernous haemangiomas (PICHs) are rare benign tumours accounting for 0.2% of all bone tumours and 10% of benign skull tumours. They are generally small, slow-growing and asymptomatic lesions. Here the authors described an immunocompromised patient with concomitant giant intradiploic ossified globular cavernous angioma and multifocal neurotoxoplasmosis that underwent a combined approach to treat both lesions with an en-bloc resection of the right parietal intradiploic lesion and biopsy of the left occipital subcortical lesion.Indeed, it is essential to exclude the presence of metastases by making a timely differential diagnosis. En-bloc surgical resection of purely intradiploic ossified cavernous angioma is the gold standard treatment and the prognosis after a complete excision is usually excellent with rarer recurrence rate.

Primary Intraosseous Cavernous Hemangioma of the Cranium: A Systematic Review of the Literature.

Primary intraosseous cavernous hemangioma (PICH) is a rare, benign tumor of vascular origin, typically arising in the vertebral body. Its presence in the skull is exceedingly rare, with only a few cases being reported worldwide. We carried out the first systematic review of the literature, covering the epidemiology, clinical and imaging features, management, and prognosis of cranial PICH. The literature search revealed 51 studies with 77 patients; the mean age of the patients was 32.7 years with a female predominance of 1.4:1. The majority of cranial PICHs were located in the calvarium, primarily in the frontal and parietal regions, with only a few located in the skull base. The most common initial clinical manifestation was local growth or swelling, followed by a headache. Radiographically, PICHs represented osteolytic, intradiploic masses, which in many cases displayed trabeculations, leading to the so-called "honeycomb" or "starburst" pattern. After contrast administration, PICHs typically enhance. Tumor removal, with craniectomy or en bloc resection and subsequent skull reconstruction, was selected for calvarial PICHs, whereas a transsphenoidal approach, with only partial resection, was applied for clival/sella PICHs. Preoperative embolization, aiming to minimize intraoperative blood loss, was performed in the case of large tumors. At a mean follow-up of 39 months, no patient experienced tumor recurrence, even after subtotal resection. Owing to the benign nature of the tumor, maximal safe resection is recommended as the treatment of choice for patients with cranial PICH.

Giant Skull Tumor: A Benign Meningioma.

ABSTRACT: A 37-year-old male patient was complaining from painless forehead swelling, which started 5 years ago. Brain computed tomography scan and magnetic resonance imaging showed a large extradural mass compressing the both frontal lobes with skull bone infiltration, hyperostosis and enlargement. The patient was operated in 2 stages. In the first stage, the authors achieved separation for the tumor from the scalp and skull. In the second stage after 1 week, the authors continued with circumferential dural opening around the tumor and separation of the tumor from brain tissue. Duroplasty was performed by autologous fascia latta and skin flap was closed primarily. The specimen was received grossly as huge mass weighing 1530 g and measuring 39 × 16 × 12 cm. Histopathologic examination showed grade I meningioma extending beyond the skull to the surrounding soft tissue.

Two-step treatment of a giant skull vault hemangioma: A rare case report and literature review.

Skull vault hemangiomas are benign vascular tumours of the calvaria that are usually asymptomatic or present as firm, painless lumps. We present a case of a 59-year-old female with a giant intraosseous calvarial hemangioma that was admitted in our department with a palpable mass over the left frontoparietal region, personality changes and impaired emotional and cognitive functions. The patient was treated with a two-step approach involving endovascular and surgical treatment, and suffered two rare, but recognized complications, a contrecoup intracerebral haemorrhage and valproate-induced stupor and parkinsonism. At the 6-month follow-up, the patient had complete recovery with a good neurological outcome.

Ossifying Fibroma of Non-odontogenic Origin: A Fibro-osseous Lesion in the Craniofacial Skeleton to be (Re-)considered.

In the cranio-facial skeleton, a heterogeneous group of well characterized fibro-osseous lesions can be distinguished. Whereas fibrous dysplasia can affect any skeletal bone, ossifying fibroma and cemento-osseous dysplasia exclusively develop in the cranio-facial region, with most subtypes restricted to the tooth bearing areas of the jaws. Herein we present a series of 20 fibro-osseous lesions that developed mostly in the frontal bone and in the mandible, presenting as expansile intramedullary tumors with a unique histologic appearance and an indolent clinical course. We provide evidence that these tumors are distinct from the categories included in the WHO classification and are therefore currently unclassifiable. The definition of cemento-ossifying fibroma as an odontogenic neoplasm developing only in close proximity to teeth should be re-considered and incorporate also extragnathic lesions as shown here.

"Slipped capital femoral epiphysis in a 25-year-old hypogonadic man with a large cranial chondroma: causality or coincidence? ".

BACKGROUND: Slipped capital femoral epiphysis (SCFE) is a hip disorder frequently occurring in adolescence. In adults it is rare and so far very few cases have been documented. CASE PRESENTATION: This report presents a 25-year-old patient diagnosed with an anterior fossa giant chondroma, hypogonadotropic hypogonadism, and SCFE. The patient underwent surgical and hormonal therapy. His symptoms revealed, and he became a father. CONCLUSIONS: Every patient diagnosed with SCFE in adulthood should undergo endocrinological assessment based on physical examination and laboratory tests.

Multiple myeloma complicated by skull plasmacytoma discovered after head injury.

Plasmacytoma is a malignant tumor originating from the plasma cells of the bone marrow. Those discovered after a head injury is rare. We report a case of a 48-year-old female who complained of scalp mass without other symptoms after head injury. Meningioma was considered preoperatively based on imaging findings, and surgical resection was performed. Postoperatively, multiple myeloma complicated by skull plasmacytoma was diagnosed by histopathology and systematic examinations in succession. When evaluating a head mass that appeared after a head injury, plasmacytoma should be considered at times. Osteolytic changes and biconvex form on imaging are beneficial to differentiation.

Programmed Death-Ligand 1 Expression and Tumor-Infiltrating Lymphocytes in Temporal Bone Squamous Cell Carcinoma.

OBJECTIVES/HYPOTHESIS: The tumor immune microenvironment in temporal bone squamous cell carcinoma (TBSCC), including the programmed death-ligand 1 (PD-L1) expression and tumor-infiltrating lymphocytes (TILs), has not been established. STUDY DESIGN: Retrospective cohort study. METHODS: We performed immunohistochemistry analyses to retrospectively analyze 123 TBSCC cases for PD-L1 expression and TILs and their prognostic significance. We also evaluated the prognostic correlations between these immunomarkers and the therapeutic responses to chemoradiotherapy (CRT). RESULTS: PD-L1 expression (≥1%) was detected in 62 (50.4%) TBSCC cases and was significantly associated with worse prognosis: progression-free survival (PFS), P < .0001; overall survival (OS), P = .0009. A high density of CD8+ TILs was significantly associated with better prognosis (PFS, P = .0012; OS, P = .0120). In contrast, a high density of Foxp3+ TILs tended to be associated with an unfavorable prognosis (PFS, P = .0148; OS, P = .0850). With regard to the tumor microenvironment subtypes defined by CD8+ TILs and PD-L1 expression, the CD8low /PD-L1+ group showed significantly worse prognosis. Among the 36 neoadjuvant CRT-treated cases, PD-L1 expression was significantly associated with worse OS (P = .0132). Among the 32 CRT-treated cases without surgery, a high density of CD8+ TILs tended to be more highly associated with complete response to CRT compared to a low density of CD8+ TILs (P = .0702). CONCLUSIONS: These results indicate that the evaluation of the tumor immune microenvironment may contribute to the prediction of prognoses and the selection of an individualized therapeutic strategy for patients with TBSCC. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2674-2683, 2021.

Middle Ear and Temporal Bone Papilloma: A Clinicopathologic Study and Comprehensive Literature Review of 57 Cases.

Sinonasal papilloma (SP), formerly Schneiderian papilloma, represents a rare group of benign epithelial neoplasms, most commonly identified in the sinonasal tract, while less frequently identified in the pharynx, lacrimal sac, and middle ear. Within temporal bone sinonasal-type papilloma (TBSP), there seems to be a much higher recurrence and malignant transformation risk than those identified in the sinonasal tract. Based on this clinical report and a review of the cases reported in the English literature, 49% of the 57 cases developed in the setting of concurrent or antecedent sinonasal or nasopharyngeal SP. There is an equal sex distribution (26 females and 31 males), with a broad age range (19-81 years) at presentation (median 56 years; average 54 years). Three patients had bilateral disease. Symptoms include a mass lesion with hearing loss, otitis media, otorrhea, otalgia, and tinnitus, among others. Inverted SP was identified in 42 patients, oncocytic SP in six, and exophytic SP in four (undefined in the remainder). Recurrence was identified in 38 of 49 patients with follow-up (78%), often with multiple recurrences over time, with carcinoma developing in the temporal bone in 19 patients (33%), with males developing carcinoma by a 1.7:1 ratio over females. Surgery was the treatment of choice (radical mastoidectomy) with 6 patients (10%) dead of disease (median 30 months, mean 38 months), while 47 patients were alive at last follow-up: 31 without disease (mean 33 months); 7 with locally recurrent disease (mean 20 months); 9 patients alive but with unknown disease status; and 4 patients without follow-up. In conclusion, TBSP is frequently identified in the setting of concurrent sinonasal tract disease, showing similar histologic features to sinonasal tract counterparts. There is no sex predilection, with patients most commonly presenting in the sixth decade of life. Recurrences are common, with carcinoma developing much more frequently than in sinonasal tract papilloma (33%), but recognizing that carcinoma may be documented in either or both anatomic sites. Overall outcome is excellent, with long term clinical follow-up warranted to manage recurrence or malignant transformation.

Central hemangioma of Zygoma - A rare case report with CT and MRI features.

Intraosseous hemangiomas are uncommon, constituting less than 1% of all osseous tumors. The most frequent sites are the calvaria and the vertebral column. The involvement of the facial bones is rare, and if occurs, it can involve maxilla, mandible, nasal bones and zygomatic bone. Zygomatic hemangioma is a benign, slow-growing tumor occurring mostly in adult women. The radiographic findings are diagnostic. Total excision of the tumor with the primary reconstruction of the defect is the preferred treatment modality. Here, we are reporting a case of a 37-year-old woman who presented with a painless hard swelling in the right zygomatic prominence, which was diagnosed as intraosseous hemangioma after the radiological examination because of its characteristic radiological picture. An Excisional biopsy also proved the swelling to be a cavernous hemangioma.

Ethmoidal osteoma in children: Literature review and presentation of a case report / Osteoma etmoidal en niños: revisión de la literatura y presentación de un caso

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Primary yolk sac tumor of pterygopalatine fossa with loss of vision: A case report.

INTRODUCTION: Primary yolk sac tumor (YST) is an infrequently-diagnosed malignant extragonadal germ cell tumors. It is likely to recur locally and may present with widespread metastases once diagnosed. Primary YST of the head is uncommon but can cause severe complications, such as loss of vision once the tumor mass invades the optic nerve. PATIENT CONCERNS: A 20-month-old boy presented to the general clinic of the local children's hospital with a complaint of swelling of left face for 1 year and proptosis of the left eye for over 2 weeks as stated by his parents. Initially, he did have some vision, as he could walk by himself, but a special ophthalmologic examination was not performed. DIAGNOSES: Cranial computed tomography and magnetic resonance imaging revealed a large tumor accompanied by peripheral bone destruction in the left pterygopalatine fossa that extended to sphenoid, ethmoid, left maxillary sinuses, left nasoethmoid, and left orbit. The optic nerve was invaded on both sides. Chest and abdominal imaging were normal. A primary diagnosis of Langerhans cell hyperplasia was made. However, blood tests on the second day of hospitalization revealed significantly elevated serum alpha-fetoprotein levels. On the third day, the boy lost his eyesight, with loss of pupillary and no light sensation during flashlight stimulation on both sides. INTERVENTIONS: Nasal endoscopy was performed on the fourth day, the vast majority of soft tissue mass was resected for biopsy. Histopathological examination revealed features of endodermal sinus tumor. A final diagnosis of primary YST of pterygopalatine fossa was made. Because the mass could not be resected completely, he received combined chemotherapy with bleomycin, etoposide, and carboplatin for 6 cycles over six months. OUTCOMES: The patient recovered with significant tumor shrinkage and without secondary metastasis after 18 months but left permanently blind. CONCLUSION: The worst complication of loss of vision after Primary YST of pterygopalatine fossa alerts us that close physical examination during the initial investigation should be performed, which is especially important in young children who cannot express complaints well. Early detection and treatment with surgical resection and chemotherapy may contribute to satisfactory outcomes and avoidance of visual impairment.