A challenging case of an adamantinoma of fibula with soft tissue mass harboring distinct histopathology.

We present a case of adamantinoma that originated from the fibula and had a large soft tissue component measuring approximately 6 cm. Clinical, radiological, and pathological investigations initially suggested that the tumor might be a bone-invading synovial sarcoma. To the best of our knowledge, no other case of fibular adamantinoma with such a large soft tissue component has been reported in the literature.

Adamantinoma of the ulna: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Adamantinomas are rare, low-grade, malignant skeletal tumors accounting for only 0.33-0.48 % of primary malignant bone tumors. CASE PRESENTATION: An 11-year-old boy with adamantinoma of the ulna was treated with en bloc resection, kryptonite bone cement, and plate fixation. The surgery resulted in marked pain relief and good functional recovery. No evidence of recurrence was observed for 5 years postoperatively, and the Musculoskeletal Tumor Society score was 93. CLINICAL DISCUSSION: This case of an 11-year-old previously treated for an aneurysmal bone cyst (ABC) illustrates the complexity of diagnosing adamantinoma, especially in atypical locations like the ulna. The successful use of en bloc resection and synthetic bone graft highlights the importance of accurate diagnosis and advanced surgical methods in achieving favorable outcomes in pediatric orthopedic oncology. CONCLUSION: Ulnar adamantinomas are rare and can be difficult to diagnose. The successful treatment of this tumor, as described in this case report, can help guide the management of similar cases in the future.

Recurrent Adamantinoma With Fibrous Dysplasia-like Feature.

Adamantinoma (AD) is a rare, slow-growing primary malignant bone tumor characterized by a biphasic morphology of clusters of epithelial cells and spindle cell osteofibrous components. A strong relationship between AD and osteofibrous dysplasia (OFD) has been proposed, while fibrous dysplasia (FD) has been rarely associated with AD. We present an AD case that was followed and histologically evaluated 3 times over 6 years with different morphological patterns. The tumor in the primary biopsy and after complete resection showed classical features of AD and osteofibrous-like pattern, while the recurrent lesion presented with exclusively spindle cell morphology and was thus diagnosed as FD. However, the extensive immunohistochemical analysis in all 3 lesions revealed strong reactivity for pancytokeratin, vimentin, p63, and podoplanin, which are characteristic for AD. Although, in the FD-like section of the tumor from the first recurrence the positivity of podoplanin was stronger than pancitokeratin, which was variably positive on spindle cells. The present case highlights the problem of diagnosing AD based on a single biopsy with one tumor's component predominating over the other, and at the same time emphasizes the importance of using immunohistochemical staining for keratin and podoplanin when the histopathological features of (osteo)fibrous lesion can be linked to AD.

Tibial Adamantinoma: A Case Report from a Resource-Limited-Setting.

Introduction: Adamantinoma is an infrequent, low-grade malignant bone tumor, predominantly affecting the tibia and often presents diagnostic challenges due to its nonspecific radiographic characteristics. Case Presentation: A 55-year-old military personnel, with no history of trauma, who presented with a one-year history of right leg swelling and pain. Radiological examination showed right anterior tibial, mid diaphyseal lytic expansile lesion with internal trabeculations and excisional biopsy led to the diagnosis of adamantinoma. Below knee amputation was done as a definitive management. Conclusion: Despite diagnostic challenges adamantinoma presents, the patient was referred to oncology and underwent amputation, underscoring the importance of considering adamantinoma in differential diagnosis for persistent bone lesions.

Osteofibrous dysplasia: a narrative review.

Osteofibrous dysplasia (OFD) is a rare, benign, self-limited bone disorder with a relatively low incidence, accounting for approximately 0.2% of all primary bone tumors. It was frequently found intra-cortical of the mid-shaft of the tibia. OFD can also occur in other skeletal regions, including the fibula, ulna, radius, femur, humerus, ischium, rib, tarsus, metatarsals, vertebral, and capitate. OFD can present with asymptomatic, mass, pain, swelling, deformity, and even pathological fracture. OFD might be misdiagnosed as adamantinoma (AD) and because they are three subtypes origin from the same family of bone tumors and have similar imaging features. Moreover, pathology could provide evidence for an accurate diagnosis of OFD, but misdiagnosis may occur due to small sampling materials. To date, few studies have comprehensively introduced the epidemiology, clinical manifestations, pathogenesis, radiological features, pathology, and treatment for OFD. We herein discuss clinical signs, diagnosis methods, and treatment options of OFD to improve the understanding of OFD, which is helpful for accurate diagnosis and appropriate treatment.

Clinical outcomes in patients with adamantinoma: Report from the bone and soft tissue tumor registry in Japan.

BACKGROUND: Adamantinomas are rare malignant bone tumors. Due to their low incidence, there are few reports on the clinical results of adamantinoma. OBJECTIVES: This study aims to clarify outcomes in patients with adamantinoma using data from the National Bone and Soft Tissue Tumor Registry. METHODS: From 2006 to 2019, 38 cases of tibial origin were included. Twenty-four were male and 14 were female, with a mean age of 37 (6-87) years and a mean follow-up of 35 (1-128) months. RESULTS: Surgery was performed in 33 cases (87%) (curettage: 4 cases, wide resection: 27 cases, amputation: 2 cases). Reconstruction was performed in 27 patients who underwent wide resection. A total of 12 additional surgeries were performed in 11 patients. The main reason for the additional surgeries was nonunion of grafting bone in 6 cases. Oncologic outcomes were DOC (death from other causes) in one case and NED (no evidence of disease) in 37 cases. CONCLUSIONS: The results of treatment of adamantinomas in Japan have been extremely favorable. This may be due in part to the large number of cases with wide resection.

DNA Methylation Profiling Distinguishes Adamantinoma-Like Ewing Sarcoma From Conventional Ewing Sarcoma.

Adamantinoma-like Ewing sarcoma (ALES) has traditionally been considered a variant of Ewing sarcoma because it generally harbors EWSR1::FLI1 fusions despite showing diffuse positivity for keratins and p40. However, it has become increasingly recognized that different tumors can have identical translocations, including shared fusions between carcinomas and sarcomas, raising questions as to whether ALES might represent a separate entity. Using methylation profiling, we further explored the relationship between Ewing sarcoma and ALES. The archives of multiple institutions were searched for candidate cases of ALES. DNA methylation profiling was performed and results were compared to corresponding data from conventional Ewing sarcoma. Twelve cases of ALES (5 previously reported) were identified in 10 men and 2 women (aged 20-72 years; median age, 41.5 years). Cases included tumors arising in the parotid gland (3), sinonasal cavity (2), submandibular gland (2), thyroid gland (1), neck (1), gingiva (1), hypopharynx (1), and mandible (1). Histologic review consistently showed sheets and nests of basaloid cells within a fibromyxoid or hyalinized stroma. All tumors were positive for at least 1 keratin and CD99 expression, whereas all 10 cases tested were positive for p63 or p40; S100 protein expression was noted in 2 cases. Cases harbored either EWSR1::FLI1 fusions (n = 6), FUS::FLI1 fusions (n = 1), and/or EWSR1 rearrangements (n = 6). Methylation profiling was successful in 11/12 cases evaluated. Unsupervised clustering and dimensionality reduction (Uniform Manifold Approximation and Projection) of DNA methylation data revealed a distinct methylation cluster for all 11 cases, including the tumor with the FUS::FLI1 fusion, which clearly segregated them from the conventional Ewing sarcoma. Follow-up (n = 11, 1-154 months) revealed that 4 patients experienced recurrence and 6 developed metastatic disease. ALES demonstrates a distinct methylation signature from conventional Ewing sarcoma. This finding adds to the distinctive immunoprofile of ALES, suggesting that these 2 tumors should be considered distinct entities rather than histologic extremes of the same disease.

Adamantinoma: A review of the current literature.

Adamantinoma is a rare primary low-grade malignant tumour of the appendicular skeleton most commonly found in the tibia. It has an indolent course, with local recurrences and lung metastases occurring over a protracted duration. There have been several suggestions pertaining to a vascular origin in the literature, however, histogenesis remains unclear. Currently, guidelines are not available pertaining to clinical management. This paper presents an overview of the current literature regarding this unusual malignancy. It also explores disease etiology and acknowledges the benefits and challenges of investigations pertaining to diagnosis. It recognizes a paucity of recommendations regarding appropriate surveillance and follow up. This review aims to assist clinicians in the building of a consensus opinion for optimal adamantinoma case management under current circumstances where formal guidelines do not exist.

Atypical Presentation of Non-Ossifying Fibroma in a Professional Muay Thai Boxer: A Case Report and a Narrative Review of the Literature.

Introduction: Sports injuries occur during sport athletic activities, or exercising. However, there are some lesions which are typically associated to sports, in such a demanding and physical sport like Muay Thai that no typical lesion has been detected yet. We performed a narrative review of the literature to highlight the typical lesions of this sport to analyze the differential diagnosis of those conditions. Case Report: A 28-year-old female, Muay Thai athlete since 16 years, presented with a 6 months history of a persistent pain in the metaphyseal lateral part of the right tibia. Differentiation between stress injuries, malignant bone tumors, and tumor-like lesions after repetitive microtrauma following sport activities can be difficult. The diagnostic approach involved conventional X-ray, echotomography, computed tomography scan, and magnetic resonance imaging scan with controversial findings. The biopsy confirmed the final diagnosis of non-ossifying fibroma. Conclusion: The purpose of this case report is to exhibit the challenges in the diagnosis of a professional Muay Thai athlete with tibial pain and to discuss the clinical presentation of this type of patients with a limited population in the literature. Our case illustrates that even modern imaging techniques cannot always distinguish between tumor and tumor-like lesions caused by sports; meanwhile remembered us that we should never be too focused on a particular characteristic forgetting even rare pathologies as adamantinoma.

Adamantinoma-like Ewing sarcoma of the salivary glands: a case report and systematic literature review.

Adamantinoma-like Ewing sarcoma (ALES) of the salivary glands is an exceedingly rare malignancy defined by the t(11,22) EWSR1::FLI1 fusion, with complex epithelial differentiation. To identify features that can allow for better recognition of this disease entity, we reviewed all published reports of molecularly confirmed ALES of the salivary glands and explored epidemiological, clinical, radiological, pathological, and therapeutic characteristics of a population of 21 patients including a single newly reported patient from our group. We searched the English-language literature indexed in PubMed, Medline, Scopus, and Web of Science using the keyword 'Adamantinoma-like Ewing sarcoma' published up to June 2022. The median age at diagnosis was 46 years, and a slight female sex predilection was observed. Most tumors originated in the parotid gland (86%) and presented as a painless palpable mass with a median diameter of 3.6 cm. Metastatic dissemination was reported only in one patient (5%), and after a median follow-up of 13 months the 1-year overall survival rate was 92%. Salivary gland ALES were frequently misdiagnosed at presentation (62% of cases) and were pathologically characterized by the presence of highly monomorphic small round blue cells with infiltrative pattern and positive immunostaining for CD99 and high- and low-molecular weight cytokeratins. Epidemiological and clinical features of salivary gland ALES raise questions on the incorporation of this malignancy in the Ewing sarcoma family tumor group.

Fine-needle aspiration cytology of adamantinoma-like Ewing sarcoma: An unusual parotid tumor.

Adamantinoma-like Ewing sarcoma (ALES) is a histological subtype of Ewing sarcoma that demonstrates the morphological and immunohistochemical features of the latter, harbors the EWSR1::FLI1 gene fusion, and additionally demonstrates complex epithelial differentiation on morphology and immunohistochemistry. Accurate preoperative diagnosis has potential to inform management and improve patient outcome. Cytomorphology of ALES is not well documented, with available reports showing a spectrum of features. An aspirate from a 30-year-old male with a swelling in right parotid region, interpreted elsewhere as acinic cell carcinoma (ACC), was submitted to us for review. Smears showed dispersed cells and loosely cohesive clusters with scant cytoplasm and large nuclei with focal nuclear molding, prompting a diagnosis of malignant neoplasm, possibly neuroendocrine carcinoma. Cytoplasmic vacuoles and tigroid background were present focally, the former of which had possibly led to interpretation as ACC. No material was available for ancillary tests. Parotidectomy revealed features of ALES. The cytological features of ALES in the parotid overlap with several basaloid and round blue cell neoplasms that are more common at this site. ALES should be considered in all salivary gland aspirates with isomorphic small round or basaloid cells, with or without the presence of squamous differentiation. Rosettes, cytoplasmic vacuoles, and a tigroid background are subtle morphological clues to the diagnosis, which if suspected on cytomorphology, can be confirmed using ancillary techniques.

Adamantinoma Metastasis to the Pelvis and Ovaries: A Case Report and Literature Review.

Adamantinoma, constituting a minute fraction of primary bone tumors, poses a diagnostic challenge due to its ambiguous histogenesis. This report outlines a distinctive case involving a 27-year-old female with a history of right tibial adamantinoma, presenting with bilateral pulmonary emboli and metastasis to the ovaries and pelvic lymph nodes. Following en bloc resection five years earlier, the patient underwent debulking surgery with hyperthermic intraperitoneal chemotherapy (HIPIC) and intraoperative radiotherapy (IORT) as a palliative measure. The procedure achieved substantial pelvic tumor reduction, and subsequent follow-ups indicated a favorable postoperative trajectory. This case underscores the rarity of adamantinoma metastasis to the ovaries and pelvis, being the first reported instance, shedding light on the challenges and potential benefits of a multimodal palliative approach. Further research is warranted to refine treatment strategies for metastatic adamantinoma and enhance patient outcomes.

Adamantinoma: An Uncommon Cause of Bone Pain in a Young Adolescent Male.

Adamantinoma, an uncommon low-grade primary malignant bone tumor, rarely causes leg pain in adolescents and typically manifests in the lower extremities, with a notable preference for the tibia, although occurrences in other bones such as the femur, fibula, and pelvis have been documented. Instances of local recurrence and regional metastasis are infrequent. This case report aims to comprehensively review the clinical presentation, imaging features, histological findings, and management of adamantinoma. The presented case involves a 17-year-old male patient with a four-year history of edema and discomfort in the right anterior leg. Radiographic examination of the proximal tibia revealed a well-defined, expansile lytic-sclerotic lesion with multiple septae and a partially sclerotic border. Subsequent magnetic resonance imaging (MRI) confirmed the nature of the lesion, and a biopsy, followed by histological analysis, confirmed the diagnosis of adamantinoma. This case highlights the significance of a multidisciplinary approach, emphasizing close collaboration among radiology, pathology, and orthopedic oncology in adamantinoma management. Long-term follow-up is imperative for monitoring recurrence and administering timely therapy. The objective of this case report is to contribute to an improved understanding of adamantinoma and offer guidance on the treatment of this uncommon bone tumor.

Osteofibrous dysplasia-like adamantinoma: A case report and literature review.

Abstract background: Osteofibrous dysplasia-like adamantinoma (OFD-like adamantinoma), classical adamantinoma and dedifferentiated adamantinoma were previously considered to be three subtypes of adamantinoma of long bones. In the 5th edition of the World Health Organization (WHO) classification of bone tumors in 2020, OFD-like adamantinoma was newly proposed and classified as an intermediate-locally aggressive tumor in other mesenchymal tumors of bone. OFD-like adamantinoma is rare, accounting for only 0.4% of all primary bone tumors. OFD-like adamantinoma is often misdiagnosed due to the insufficient understanding of it. Here we report a case of OFD-like adamantinoma treated in our hospital with a literature review. Case presentation: The patient, a 14-year-old male, had swelling in his right leg with intermittent pain for one year. Plain radiography, computed tomography (CT) and magnetic resonance imaging (MRI) were performed. Based on the radiological and histological examinations, a diagnosis of OFD-like adamantinoma was suspected. After admission, the patient underwent tumor resection of the right tibia, free transplantation of the left fibula and internal fixation. After resection of the tumor, the wound recovered well, the vital signs were stable, and activity was normal. The patient has been followed up for more than a year with no recurrence or distant metastasis. Conclusion: OFD-like adamantinoma is a rare primary bone tumor with nonspecific clinical features. Imaging examination can demonstrate the lesion and help diagnosis. The pathological discovery of epithelioid tissue is the key evidence for diagnosis.

A 15 year-old-girl with persistent leg pain diagnosed as a giant cell tumor of the tibial diaphysis: A case report and review of the literature.

INTRODUCTION: Giant cell tumor (GCT) is a benign bone tumor typically seen in epiphysis or metaphysis of mature long bones. Multiple large multinucleated giant cells dispersed among mononuclear spindle cells and monocytes constitute characteristic histological background of GCT of bone (GCTB). CASE PRESENTATION: A 15-year-old girl was admitted to our hospital with the complaint of pain and swelling in the left leg with difficulty in walking for 2 years. On X-ray of the left leg, osteolytic, expansile, eccentric lesion with sclerotic bone margin on the diaphysis of the tibia was seen suggesting oesteofibrous dysplasia. MRI demonstrated findings compatible with adamantinoma. The subsequent histology report was rather surprising, consistent with giant cell tumor of the bone. Extended intralesional curettage was done with the help of a high-speed burr followed by chemical cauterization and bone grafting. The patient was followed up for 2 years. The patient could walk normally without assistance or any signs of a recurrence. DISCUSSION: GCTB commonly affects people in their third and fourth decades of life and involves epiphysis of the long bone, but this is a case of diaphyseal GCT, at an age of 15 years. It is challenging to diagnose GCT, if present in an unusual location, unless confirmed by histopathological examinations. CONCLUSION: A multi-disciplinary approach is required to correctly reach the diagnosis of GCT when it happens to be in an uncommon location(s). Early diagnosis with appropriate treatment and long-term follow-up is mandatory for the successful outcome of the treatment.

Adamantinoma : The first report from Syria.

Adamantinoma is rare, representing less than 1 % of all primary bone tumors. It is a slow growing low grade tumor which is often clinically, radiologically and histologically mistaken for many other tumors. In this report, we present a case of Adamantinoma in a 17-year-old Syrian adolescent. The patient presented with pain and swelling anterior aspect of his left leg for last six months. We analyzed the clinical, radiographical and pathological characteristics of our patient, which helped us to reach the final diagnosis. The aim of this report is to document the presence of Adamantinoma in Syria to help other Syrian physicians considering this disease in the differential diagnosis if they face similar presentations.

Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma.

A 17-year-old male with no previous medical history was admitted 2 days before his death to a local hospital after mild dyspnea. Electrocardiography, chest radiography, and blood analysis revealed no abnormalities. Blood oxygen saturation was 99%, and SARS-CoV-2 nasopharyngeal swabs tested negative; thus, he was discharged without prescriptions. After 2 days, the subject died suddenly during a pool party. Forensic autopsy was performed analyzing all anatomical districts. Cardiac causes were fully excluded after deep macroscopic and microscopic evaluation; lung and brain analyses showed no macroscopic pathology. Finally, a large subglottic solid mass was detected. The whitish neoplasm showed an aggressive invasion pattern to the thyroid and adjacent deep soft tissues and occluded the trachea. High-power microscopy showed sheets of small, uniform cells with scant cytoplasm; round nuclei; and small, punctate nucleoli, with immunohistochemical expression of CK8-18, AE1/AE3, and CD99. Using FISH analysis, the break-apart molecular probes (EWSR1 (22q12) Break - XL, Leica Biosystem, Nussloch, Germany) showed distinct broken red and green fluorochromes, diagnostic of Ewing sarcoma. The neoplasm was characterized as adamantinoma-like Ewing sarcoma, and the mechanism of death was identified as airway obstruction. The rarity of the case resides in the circumstances of death, which pointed to the possibility of sudden unexpected death due to heart disease, but an oncological cause and the underlying mechanism were finally diagnosed. The best method to perform autopsies is still complete, extensive, and systematic macroscopic sampling of organs and districts followed by histopathological analysis, in addition to immunohistochemical and molecular investigations in those cases in which they are necessary. In fact, when neoplasms are detected, the application of advanced techniques such as immunohistochemistry and molecular diagnostics is fundamental to accurately certify death.

Ameloblastoma: An Updated Narrative Review of an Enigmatic Tumor.

Ameloblastoma is one of the most common benign odontogenic tumors of the jaw that constitutes about 10% of all tumors that arise in the mandible and maxilla. It is a slow-growing but locally invasive tumor that presents with painless swelling of the mandible or maxilla. The World Health Organization (WHO) classification of 2017 describes ameloblastomas of the following four types: ameloblastoma; unicystic ameloblastoma; extraosseous/peripheral ameloblastoma; and metastasizing ameloblastoma. The diagnosis of ameloblastoma requires computerized tomography (CT) imaging as well as a biopsy. A biopsy is helpful in differentiating ameloblastoma from ossifying fibroma, osteomyelitis, giant cell tumor, cystic fibrous dysplasia, myeloma, and sarcoma. The best treatment of ameloblastoma is aggressive en bloc resection with simultaneous reconstruction. The high recurrence rate and large tissue defects have been long-standing issues in the treatment of ameloblastoma. Recent molecular developments strongly suggest the possibility of targeted therapy with better outcomes in ameloblastomas. We present a detailed updated narrative review of our current understanding and management of this enigmatic tumor.

Adamantinoma with a Prominent Spindle Cell Component Mimicking Intraosseous Synovial Sarcoma: Clinicopathological Features of Six Tumors.

Introduction. Adamantinoma is sub-classified into classic/biphasic, osteofibrous dysplasia-like, and de-differentiated type. We present six adamantinomas with a prominent spindle cell component mimicking intraosseous synovial sarcomas. Methods. Six patients were either referred with a diagnosis of intraosseous synovial sarcoma or wherein synovial sarcoma was a differential diagnosis. Three tumors were tested for SS18 gene rearrangement by FISH and two for SS18::SSX fusion by RT-PCR technique. Results. There were three males and three females with an average age of 20.6 years. Radiologically, the lesions were expansile and showed lytic and/or sclerotic components, involving the cortex and/or medulla. Five lesions occurred in the tibia and two in the fibula. Two tumors displayed soft tissue extension and two occurred as multifocal lesions. Two patients were diagnosed with synovial sarcoma and a single patient with sarcomatoid carcinoma, elsewhere. Two "in-house" patients were initially diagnosed with synovial sarcomas. On review, all tumors were cellular comprising monomorphic spindle-shaped cells arranged in sheets and fascicles (n = 6), including a "herringbone-like" pattern (n = 3), focal tubules (n = 1), cohesive nests (n = 5), cords (n = 2), including pseudocystic component (n = 2). Immunohistochemically, tumor cells were positive for p63 (6/6), p40 (4/4), EMA (2/3), AE1/AE3 (5/6), various keratins (2/2), and TLE1 (2/4). Three tumors tested for SS18 rearrangement were negative, while two tumors tested for SS18::SSX fusion were negative. Conclusions. Adamantinomas with spindle cell morphology display overlapping features with synovial sarcoma. A clinico-radiological index of suspicion immunostains (p63 and p40) and molecular test for t(X; 18) translocation are useful in an exact diagnosis, which has treatment-related implications.

Rapidly Progressive Classic Adamantinoma of the Spine: Case Report and Literature Review.

Adamantinoma is a locally aggressive or malignant tumor, accounting for <0.5% of all primary bone tumors. The tumor usually progresses slowly, with a relatively promising prognosis. Primary or metastatic spinal adamantinoma of bone are rarer. Only four cases have been documented till date. We present two cases of aggressive spinal adamantinoma whose microphotography and radiographic appearance were unusual, with extensive involvement of multiple segments and rapid progression. Case 1 was a 36-year-old woman, presenting with back pain, progressive numbness and motor weakness, who was diagnosed with metastatic adamantinoma in the T2, T7, L2, and L4. She underwent spondylectomy three times to resect these lesions, respectively. Case 2 was a 68-year-old male with complaints of severe left back pain. MRI revealed destructive changes in T1-T4. He underwent posterior decompression (T1-T3), partial vertebrectomy (T2), fixation and fusion (C5-C7, T4-T6). The pathology of two patients was metastatic spinal adamantinoma, whose primary lesions were from tibia and femoral adamantinoma, respectively. Rapid squamous progression was observed in specimens of T2 and T7 lesions of Case 1 in two months. Twenty-five months after surgery, Case 1 developed paralysis, but she refused to receive further examination and treatment. Two months after surgery, Case 2 presented with an upper back pain again. The MRI revealed an increase in osseous destruction and paravertebral mass size. He was administered radiotherapy, with his upper back pain partially relieved. The biological behavior of classic adamantinoma is highly unpredictable, often exhibiting more aggressive behavior upon recurrence or metastasis. The pathological diagnosis of adamantinoma should be confirmed by preoperative biopsy. En bloc resection with a wide margin is the preferred treatment for primary spinal adamantinoma. Radiation therapy can partially relieve the pain.