A rare case of giant cell tumor of the anterior rib presenting as a breast mass.

Initial diagnostic ultrasound of a 22-year-old female patient presenting with a palpable breast mass revealed a suspicious mass initially thought to arise from the breast. However, follow-up diagnostic mammography was normal without evidence of the 5 cm mass seen on ultrasound, and pathology results from ultrasound-guided core needle biopsy raised suspicion for giant cell tumor, making chest wall origin of the mass more likely. Further CT and MRI imaging indeed revealed a locally invasive mass arising from the anterior fifth rib. The patient was treated with denosumab to decrease tumor burden before surgery, and subsequently underwent successful surgical resection of the tumor with mesh overlay and flap reconstruction of the chest wall defect. This case highlights the importance of keeping chest wall lesions in the differential for lesions presenting clinically as breast lesions. Despite the rarity of giant cell tumor of the anterior rib and its unusual presentation as a breast mass, appropriate diagnostic imaging work-up allowed for successful diagnosis and treatment in this case.

Efficacy and safety of denosumab de­escalation in giant cell tumor of bone.

Giant cell tumor of bone (GCTB) is a locally aggressive intermediate bone tumor. Denosumab has shown effectiveness in GCTB treatment; however, the benefits of denosumab de-escalation for unresectable GCTB have not been well discussed. The present study investigated the efficacy and safety of denosumab de-escalation for GCTB. The medical records of 9 patients with unresectable GCTB or resectable GCTB not eligible for resection, who received de-escalated denosumab treatment at Okayama University Hospital (Okayama, Japan) between April 2014 and December 2021, were retrospectively reviewed. The denosumab treatment interval was gradually extended to every 8, 12 and 24 weeks. The radiographic changes and clinical symptoms during standard and de-escalated denosumab therapy were assessed. The denosumab interval was de-escalated after a median of 12 months of a standard 4-weekly treatment. Imaging showed that the re-ossification of osteolytic lesions obtained with the 4-weekly treatment were sustained with 8- and 12-weekly treatments. The extraskeletal masses reduced significantly with standard treatment, while tumor reduction was sustained during de-escalated treatment. During the 24-weekly treatment, 2 patients remained stable, while 2 patients developed local recurrence. The clinical symptoms improved significantly with standard treatment and remained improved during de-escalated treatment. There were severe adverse events including osteonecrosis of the jaw (2 patients), atypical femoral fracture (1 patient) and malignant transformation of GCTB (1 patient). In conclusion, 12-weekly de-escalated denosumab treatment showed clinical benefits as a maintenance treatment in patients with unresectable GCTB, in addition to sustained stable tumor control and improved clinical symptoms with standard treatment. A 24-weekly treatment can also be administered, with careful attention paid to detecting local recurrence.

Cytoplasmic PPARγ Significantly Correlates With P53 Immunohistochemical Expression and Tumor Size in Localized Tenosynovial Giant Cell Tumor.

BACKGROUND: Tenosynovial giant cell tumor (TGCT) is a monoarticular fibrohistiocytic benign or locally aggressive soft tissue tumor that originates from the synovium of joints, bursae, and tendon sheaths. It has an inflammatory neoplastic nature, with a clinical presentation ranging from pain, swelling, stiffness, and limited range of movement to joint instability and blockage. Its uncommon incidence leads to a poorly understood pathogenesis. Localized forms of TGCT (LTGCT) can cause significant morbidity, interfere with daily patient activities, and decrease the patient's quality of life in challenging cases. This study aimed to investigate the immunohistochemical expression of PPARγ (peroxisome proliferator-activated receptor gamma) and P53 in LTGCT to understand the disease better and offer potential therapeutic targets. METHODS: The study is cross-sectional, in which 27 LTGCT cases were collected from the Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt. Solitary and multiple LTGCT cases retrieved between January 2018 and December 2022 were included, and immunohistochemically stained with anti-PPARγ and P53 antibodies. The TGCT samples were excluded if they were insufficient for sectioning, processing, and interpretation, over-fixed, had process artifacts, or were of the diffuse TGCT type. Scoring of stain expression was performed by ImageJ (National Institutes of Health, Bethesda, MD) analysis using the threshold method and was expressed in percent area/high power field. Clinicopathological correlations were analyzed. RESULTS: All the 27 collected LTGCT cases were located in the small joints of patients' hands. Cases with solitary LGTCTs constituted 55.6% (n = 15), while 44.4% (n = 12) had multiple LTGCTs related to one affected site/case (e.g., multiple tumors in one finger). PPARγ was expressed in the cytoplasm of mononuclear and multinucleated tumor cells and foamy histiocytes, while P53 expression was mainly in mononuclear cells' nuclei. PPARγ significantly correlated with P53 expression (r = 0.9 and P = 0.000). PPARγ (r = 0.4 and P = 0.02) and P53 (r = 0.5 and P = 0.01) were positively correlated with tumor size. Only P53 expression was positively correlated with tumor multiplicity (r = 0.4 and P = 0.03). Using the receiver operating characteristic curve test, the P53 cutoff score detecting the multiplicity of TGCTs was ≥20.5%, with a 75% sensitivity and 80% specificity. CONCLUSION: PPARγ and P53 have a significant role in LTGCT growth, while P53 plays a role in tumor multiplicity. They can be possible targets in LTGCTs unfit for excision.

Giant Cell Tumor of the Temporal Bone with Direct Invasion into the Middle Ear and Skull Base: A Case Report.

Giant cell tumor (GCT) of bone is a rare, benign, osteolytic neoplasm that most commonly occurs in early adulthood and often involves the long bones of the body. Although GCT largely affects the epiphyses of long bones, several reports of GCT involvement of the cranial and facial bones exist in the literature. In addition to reviewing other reported cases of GCT of the lateral skull base in the literature, the authors report here on the clinical presentation, radiographic findings, and management of a patient found to have a GCT of the squamous part of temporal bone invading the middle ear and infratemporal fossae, which was treated by en bloc resection of the lateral skull base.

Thoracic giant cell tumor after two total en bloc spondylectomies including one emergency surgery: A case report.

BACKGROUND: For patients with acute paraplegia caused by spinal giant cell tumor (GCT) who require emergency decompressive surgery, there is still a lack of relevant reports on surgical options. This study is the first to present the case of an acute paraplegic patient with a thoracic spinal GCT who underwent an emergency total en bloc spondylectomy (TES). Despite tumor recurrence, three-level TES was repeated after denosumab therapy. CASE SUMMARY: A 27-year-old female patient who underwent single-level TES in an emergency presented with sudden severe back pain and acute paraplegia due to a thoracic spinal tumor. After emergency TES, the patient's spinal cord function recovered, and permanent paralysis was avoided. The postoperative histopathological examination revealed that the excised neoplasm was a rare GCT. Unfortunately, the tumor recurred 9 months after the first surgery. After 12 months of denosumab therapy, the tumor size was reduced, and tumor calcification. To prevent recurrent tumor progression and provide a possible cure, a three-level TES was performed again. The patient returned to an active lifestyle 1 month after the second surgery, and no recurrence of GCT was found at the last follow-up. CONCLUSION: This patient with acute paraplegia underwent TES twice, including once in an emergency, and achieved good therapeutic results. TES in emergency surgery is feasible and safe when conditions permit; however, it may increase the risk of tumor recurrence.

Multimodal imaging in the diagnosis of bone giant cell tumors: A retrospective study.

BACKGROUND: Giant cell tumor of bone is a locally aggressive and rarely metastasizing tumor, and also a potential malignant tumor that may develop into a primary malignant giant cell tumor. AIM: To evaluate the role of multimodal imaging in the diagnosis of giant cell tumors of bone. METHODS: The data of 32 patients with giant cell tumor of bone confirmed by core-needle biopsy or surgical pathology at our hospital between March 2018 and March 2023 were retrospectively selected. All the patients with giant cell tumors of the bone were examined by X-ray, computed tomography (CT) and magnetic resonance imaging (MRI), and 7 of them were examined by positron emission tomography (PET)-CT. RESULTS: X-ray imaging can provide overall information on giant cell tumor lesions. CT and MRI can reveal the characteristics of the internal structure of the tumor as well as the adjacent relationships of the tumor, and these methods have unique advantages for diagnosing tumors and determining the scope of surgery. PET-CT can detect small lesions and is highly valuable for identifying benign and malignant tumors to aid in the early diagnosis of metastasis. CONCLUSION: Multimodal imaging plays an important role in the diagnosis of giant cell tumor of bone and can provide a reference for the treatment of giant cell tumors.

Fine-needle aspiration cytology of diffuse type tenosynovial giant cell tumor with malignant trasformation and review of literature.

Tenosynovial giant cell tumors (TGCTs) arise from the synovium of joint, bursa, and tendon sheath. Diffuse type often affects large joints, has higher recurrence rates, metastases, and malignant transformation potential compared to the localized type. The cytopathology of TGCT, a fibrohistiocytic neoplasm distinct from other giant cell-rich soft tissue tumors, is rarely reported. Here we describe cytomorphology of a case of TGCT that was initially diagnosed on fine-needle aspiration cytology (FNAC) consisting of a mixture of singly scattered polygonal or spindle mononuclear cells with hemosiderin laden macrophages, inflammatory cells, and a population of multinucleated osteoclast-like giant cells. Persistent symptoms and repeat excision were consistent with high-grade malignant transformation of the TGCT. Atypical cytologic features in a recurrent, infiltrative, or a metastatic lesion should raise suspicion for malignancy.

Giant cell tumor of the posterior arc of the rib: A case report and literature of review.

INTRODUCTION AND IMPORTANCE: Giant cell tumors of bone (GCTB) are infrequent tumors that usually impact the epiphyses of long bones and uncommonly manifest in the ribs. Herein, we report a case of asymptomatic GCTB directly invading the lung tissue. CASE PRESENTATION: A 36-year-old man was referred to our emergency department with only left chest pain. Computed tomography revealed a large heterogeneous solid cystic mass in the left lung apex and amorphous calcification and distraction in the posterior part of the left fourth rib. Histological examination also exhibited that the GCTB originated from the rib. The patient underwent an en-bloc resection with no recurrence in his one-year follow-up. CLINICAL DISCUSSION: GCTB is characterized by osteoclast-like multinucleated giant cells and can exhibit aggressive local behavior. GCTB in the rib is rare, mainly found in the posterior arc. Radiographic features include lytic lesions with bone remodeling, often seen eccentrically in long bone epiphyses. Aggressive tumors may show cortical destruction and soft tissue extension. Surgery is often recommended for GCTB management, aiming for complete resection with sufficient surgical margins. CONCLUSION: The absence of well-defined diagnostic criteria hinders the accurate diagnosis of GCTB, making a comprehensive assessment through radiological and histological examinations crucial. Upon physical examination, GCTB should be considered in the differential diagnosis for mediastinal lesions, regardless of their size. Furthermore, surgical removal can be taken into account as the primary treatment strategy for tumors that originate from the posterior arc of the ribs, such as GCTB.

Huge Distal Ulna Giant Cell Tumor Treated with Wide Local Excision and Extensor Carpi Ulnaris Tenodesis - A Rare Case Report.

Introduction: Giant cell tumors (GCT) are a relatively uncommon type of non-cancerous bone growth, representing around 4-10% of all bone tumors. These tumors tend to exhibit local aggressiveness and are typically prevalent in individuals between 20 and 40 years old. Commonly observed locations for GCT include the distal femur, proximal tibia, and the distal end of the radius. However, occurrences at the distal end of the ulna are rare, accounting for only 0.45-3.2% of cases. Case Report: In this instance, we present the case of a 36-year-old male diagnosed with a GCT specifically located in the left distal ulna. Our approach involved managing the patient through the complete removal (en-bloc resection) of the distal ulna. Following this, we performed an extensor carpi ulnaris (ECU) tenodesis to stabilize the proximal stump. After 2-year follow-up, the patient exhibited positive outcomes, displaying satisfactory wrist joint mobility and functionality without any signs of tumor recurrence. Conclusion: This case emphasizes the effectiveness of wide resection as a viable treatment for huge GCTs in the distal ulna. Utilizing tenodesis with the tendon of ECU significantly contributes to stabilizing the ulnar stump, leading to improved wrist function.

Excision of a Giant Cell Tumor With Bone Grafting and Bone Cementing of the Proximal Humerus: A Case Report.

Giant cell tumors (GCTs) of the bone are uncommon neoplasms that predominantly affect the metaphysis of long bones, with proximal humerus involvement being less frequent. We present the case of a 58-year-old male who presented with a two-month history of progressive right shoulder pain and difficulty in raising his arm. Clinical examination revealed a palpable swelling on the lateral aspect of the right arm. Radiological investigations, including X-ray and magnetic resonance imaging (MRI), confirmed the presence of a primary osseous neoplasm involving the proximal humerus, suggestive of a GCT. The patient underwent surgical excision of the tumor with bone grafting and bone cementing of the proximal humerus. Post-operative care included prescribed medications and physiotherapy. This case highlights the successful management of GCTs of the proximal humerus through a multidisciplinary approach, emphasizing the importance of meticulous surgical technique, appropriate reconstruction, and comprehensive post-operative care for optimal patient outcomes.

Nonfamilial cherubism in a 6-month-old infant: a case report.

BACKGROUND: Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3. It has not yet been observed at birth and is usually diagnosed in children aged 2-7. Here, we present a non-hereditary case of cherubism at a very early age. CASE PRESENTATION: A 6-month-old girl presented with bilateral progressive jaw enlargement. On physical examination, bilateral asymmetrical jaw enlargement, predominantly on the left side, and some enlarged, non-tender, mobile submandibular lymph nodes were detected. No other abnormality was observed. Further investigations with radiology suggested cherubism and Burkitt's lymphoma as differential diagnoses. Later on, histopathologic evaluations were suggestive of cherubism. No surgical interventions were indicated, and the child is on regular follow-ups. CONCLUSION: Non-hereditary Cherubism, despite scarcity, can present in children below two years of age, even as early as the beginning of primary dentition. Accurate and swift diagnosis is essential to avert physical and psychological complications. Our case report shows the importance of keeping cherubism in mind as a differential diagnosis of bone disease, even in children under a year old, and the value of interdisciplinary collaboration in dealing with rare genetic disorders.

Management of Recurrent Giant Cell Tumor of Distal Tibia With Intramedullary Hindfoot Fusion Nail and Trabecular Metal Implant Construct.

Reconstruction options for giant cell tumors (GCTs) of bone are limited and challenging due to the amount of structural compromise and the high recurrence rates. This is especially true for GCTs of the foot and ankle, as the area is vital for weight bearing and function. The typical treatment for GCTs is currently excision, curettage, and cementation, although that is not always effective. A 36-year-old otherwise healthy female presented with an original diagnosis of a large aneurysmal bone cyst (ABC) of the distal tibia that had recurred despite two previous attempts at treatment with resection and cementation. She was treated with surgical resection of the lesion, reconstruction, and ankle and subtalar joint arthrodesis with a tibiotalocalcaneal intramedullary nail in combination with a trabecular metal cone. The final pathology of the intraoperative samples was consistent with GCT. Postoperatively, she recovered well, and her imaging was consistent with a successful fusion. This case report provides evidence that tibiotalocalcaneal fusion with a unique combination of hindfoot nail and trabecular metal cone construct in a single procedure is a successful option for the treatment of large, recurrent GCT lesions in the distal tibia.

Treatment of Clival Giant Cell Tumor: A Case Report and Literature Review.

Giant cell tumors (GCTs) are locally aggressive primary bone tumors of osteoclast-like cells. Most GCTs occur within the long bones, and primary GCTs involving the clivus are extremely rare. We present the case of an 18-year-old boy with binocular horizontal diplopia with an insidious onset who was found to have a hypointense enhancing mass involving the clivus and left side dorsum sellae on magnetic resonance images. The tumor was completely resected via an endoscopic endonasal transclival approach, and histopathologic examination via immunohistochemistry indicated a GCT. The patient's left abducens nerve palsy improved slightly after surgery. Because of the rarity of GCTs, there is no consensus about the definitive treatment protocol. However, we suggest that gross total resection is the treatment of choice, and denosumab plays a critical role in patients with subtotal resection.

Giant Cell Tumor of the Anterior Arc of the Rib: A Case Report.

Tumors that develop on the chest wall are usually rare. This case report highlights a rare occurrence of a giant cell tumor originating from the anterior arch of the fourth rib. The patient, a 21-year-old male, presented with a bulging mass that had been gradually increasing in size over an eight-month period, reaching dimensions of 12 x 8 cm. Despite the noticeable swelling, the patient reported no associated pain or discomfort and denied any history of weight loss or trauma. The absence of chest pain or cardiovascular symptoms distinguished this case from other chest wall pathologies. This report underscores the importance of considering rare entities such as giant cell tumors in the differential diagnosis of chest wall masses, especially in cases where clinical presentation and patient history do not align with more common conditions.

Giant Cell Tumor of the Tendon Sheath of the Hand: Analysis of Factors Impacting Recurrence.

Background Giant cell tumors of the tendon sheath (GCTTS) of the hand are considered the second most common benign tumors of the hand after ganglion cysts. Excision biopsy is considered the standard treatment at present. They are notorious for having a very high rate of recurrence as given in many studies. Many factors are said to be associated with recurrence of the tumors. The goal of this study is to evaluate the long-term results of a series of 48 patients operated on at a single institute and to find out if there is any correlation between the proposed risk factors with recurrence. Methods A retrospective analysis was done in cases of GCTTS operated on between 2015 and 2021. The patients were invited for follow-up for a minimum of 2 years, and the patient files were reviewed. Further data were collected at follow-up including recurrence, range of movement, sensation, skin necrosis, scarring, and digital neuropathy. A data analysis was done. The correlation between the proposed risk factors and recurrence was calculated with the Pearson correlation coefficient. A p -value of less than 0.05 was considered statistically significant. Results During the 6 years, 48 patients were operated on. Recurrence was observed in eight patients (16%) at an average of 38.7 months from the time of surgery. Of the risk factors, tumors with satellite nodules and tumor adjacency to joint correlated significantly with recurrence. No complications were observed during follow-up. Conclusion GCTTS of the hand has a high propensity to recur. The presence of satellite nodules and proximity to interphalangeal joints are two important risk factors for recurrence. Magnification during surgery ensures complete excision of the tumor and reduces the chance of recurrence.

Micro-CT, Mechanical, and Histological Examination of the Effect of Local Adjuvants on Porcine Cortical Bone Following Intralesional Curettage of Bone Tumors.

BACKGROUND AND OBJECTIVES: Curettage is the removal of a tumor from the bone while preserving the surrounding healthy cortical bone, and is associated with higher rates of local recurrence. To lower these rates, curettage should be combined with local adjuvants, although their use is associated with damage to nearby healthy bone. OBJECTIVE: The purpose of this analysis is to determine the effect of local adjuvants on cortical porcine bone by using micro-computed tomography (micro-CT) along with histological and mechanical examination. METHODS: Local adjuvants were applied to porcine specimens under defined conditions. To assess changes in bone mineral density (BMD), a micro-CT scan was used. The pixel gray values of the volume of interest (VOI) were evaluated per specimen and converted to BMD values. The Vickers hardness test was employed to assess bone hardness (HV). The depth of necrosis was measured histologically using hematoxylin and eosin-stained tissue sections. RESULTS: A noticeable change in BMD was observed on the argon beam coagulation (ABC) sample. Comparable hardness values were measured on samples following electrocautery and ABC, and lowering of bone hardness was obtained in the case of liquid nitrogen. Extensive induced depth of necrosis was registered in the specimen treated with liquid nitrogen. CONCLUSION: This study determined the effect of local adjuvants on cortical bone by using micro-CT along with histological and mechanical examination. Phenolization and liquid nitrogen application caused a decrease in bone hardness. The bone density was affected in the range of single-digit percentage values. Liquid nitrogen induced extensive depth of necrosis with a wide variance of values.

Giant Cell Tumor of Soft Tissue: An Updated Review.

Giant cell tumor of soft tissue (GCTST) is a locally aggressive mesenchymal neoplasm of intermediate malignancy that predominantly occurs in the superficial soft tissue of the extremities. It is histologically similar to a giant cell tumor of bone (GCTB) and shows a mixture of round to oval mononuclear cells and osteoclast-like multinucleated giant cells. Currently, immunohistochemistry plays a very limited role in the diagnosis of GCTST. Primary or secondary malignant GCTST has recently been described and tumors exhibiting high-grade histological features demonstrate higher rates of distant metastasis. GCTST lacks the H3-3A gene mutations that are identified in the vast majority of GCTBs, suggesting a different pathogenesis. Surgery is the standard treatment for localized GCTST. Incomplete surgical resection is usually followed by local recurrence. Radiation therapy may be considered when the close proximity of critical structures prevents microscopically negative surgical margins. The systemic treatment options for advanced or metastatic disease are very limited. This review provides an updated overview of the clinicoradiological features, pathogenesis, histopathology, and treatment for GCTST. In addition, we will discuss the differential diagnosis of this peculiar neoplasm.

Microwave-assisted intralesional curettage combined with other adjuvant methods for treatment of Campanacci III giant cell tumor of bone in distal radius: a multicenter clinical study.

Objective: To compare the clinical outcomes of microwave-assisted intralesional curettage(MAIC) with those of en bloc resection and autogenous fibular reconstruction (EBR-AFR) for treating grade III giant cell tumor of the bone (GCTB) of the distal radius and to elucidate the indications for wrist preservation surgery. Materials and methods: In this retrospective study, 19 patients with grade III GCTB of the distal radius who underwent surgery at three medical institutions were included and categorized based on their surgical pattern. Seven patients underwent MAIC and internal fixation with bone cement (MAIC group) and 12 underwent EBR-AFR (EBR-AFR group). To evaluate the function of the affected limb postoperatively, wrist range of motion, grip strength, Musculoskeletal Tumor Society (MSTS) scores were recorded. Results: The follow-up time of the MAIC group was 73.57 ± 28.61 (36-116) months, with no recurrence or lung metastasis. In contrast, the follow-up time of the EBR-AFR group was 55.67 ± 28.74 (36-132) months, with 1 case of local recurrence (8.3%, 1/12) and 1 case of lung metastasis (8.3%, 1/12). The wrist flexion, extension, supination, pronation, grip strength were better in the MAIC group than in the EBR-AFR group. Although there was no statistically significant difference in the MSTS score between the two groups, it is noteworthy that the MAIC group exhibited significantly superior emotional acceptance and hand positioning compared to the EBR-AFR group(p < 0.05). Conclusion: The functional outcomes of the MAIC group are better. The treatment strategy for grade III GCTB of the distal radius should be determined based on the specific preoperative imaging findings. Nevertheless, MAIC can be the preferred surgical approach for most patients with grade III GCTB of the distal radius, particularly for young patients.