Giant Cell Tumor Research Articles

Rare Presentation and Treatment of an Invasive Giant Cell Tumor of the Middle Ear and Skull Base: A Case Report

Rare Presentation and Treatment of an Invasive Giant Cell Tumor of the Middle Ear and Skull Base: A Case Report

241 Recurrence of giant cell tumor of the bone with malignant transformation and metastasis

241 Recurrence of giant cell tumor of the bone with malignant transformation and metastasis

Rare Presentation and Resection of Giant Cell Tumor Invading the Middle Ear and Skull Base: A Case Report

Rare Presentation and Resection of Giant Cell Tumor Invading the Middle Ear and Skull Base: A Case Report

Primary Giant Cell Tumor of the Skull Base with Hmga::Ncor2 Fusion: An Ultra-Rare Entity in the Young Pediatric Patient

Primary Giant Cell Tumor of the Skull Base with Hmga::Ncor2 Fusion: An Ultra-Rare Entity in the Young Pediatric Patient

Anatomic 3D-Printed Endoprosthetic With Multiligament Reconstruction After En Bloc Resection in Giant Cell Tumor of Distal Radius

A 34-year-old woman was diagnosed with a giant cell tumor of the right distal radius with extensive articular invasion. After en-bloc resection of 5.5 cm of the distal radius, reconstruction was done with three-dimensional printing custom-made distal radius prosthesis. In addition, a multiligament reconstruction was done to prevent postoperative radiocarpal subluxation and imitate the native distal radius. At 18 months, the range of motion was 20° dorsiflexion, 10° palmar flexion, 10° supination, and 60° pronation. Her grip strength was 60% compared with the contralateral side. No complications were seen during this 2-year follow-up. We present the combined 3-dimensional printed custom-made prosthetic with multiligament reconstruction as an innovative method without postoperative complication at 2 years.

Tenosynovial Giant Cell Tumor of the Temporomandibular Joint with Skull Base Erosion: Multidisciplinary Management of a Rare Case and Review of the Literature

Tenosynovial Giant Cell Tumor of the Temporomandibular Joint with Skull Base Erosion: Multidisciplinary Management of a Rare Case and Review of the Literature

Giant Cell Tumor of Hoffa’s Fat Pad: A Case Report

Tenosynovial giant cell tumor (GCT) is a rare, benign disorder involving the joint’s synovial lining, tendon sheath or bursa. It can be classified as localized or diffuse based on its pattern and behavior. Localized form is extremely rare in knee joint. We present an unusual case of localized form of GCT in Hoffa’s fat pad in a young female, treated with arthroscopic resection and monitored for over a year with no recurrence. Despite its rarity, GCT of Hoffa’s fat pad should be considered in cases of non-traumatic knee pain.

Variety and results of the use of interventional oncoortopedic benefits for focal skeletal lesions

Introduction. The use of systemic drugs of special drug therapy in oncology is one of the key methods of treating patients including those with bone metastases. However, this does not always allow to eliminate the pain syndrome and avoid complications in the form of pathological fractures. Bone metastases often leave in the arsenal of oncologists’ mainly palliative agents, the main purpose of which is to reduce pain and improve the quality of life of patients.Aim. To analyze the results of minimally invasive interventions in the volume of percutaneous vertebroplasty, osteoplasty and radiofrequency thermoablation.Materials and methods. From 2015 to 2023, 488 patients on the basis of the Russian Scientific Center of Radioradiology underwent 716 interventional surgeries: 585 (81.7 %) percutaneous vertebroplastics, 103 (14.4 %) osteoplastics, 21 (2.9 %) radiofrequency thermoablasias, 7 (1 %) combined operations (radiofrequency thermoablasty + osteoplasty/vertebroplasty). Metastatic lesion was observed in 449 patients, benign tumors – in 38 (in 31 – hemangioma, in 7 – osteoid osteoma), borderline neoplasm (giant cell tumor) – in 1. Results were assessed by comparing measures of pain intensity in dependence on analgesic agents (by the visual analog scale (VAS) and Watkins scale), as well as motor activity levels (by the Eastern Cooperative Oncology Group (ECOG)) and neurological deficits (by the Frankel scale) before surgery, at the time of discharge and 3 months after surgery.Results. In patients with metastatic bone damage 3 months after surgery, a mean decrease in the intensity of pain syndrome according to VAS was noted from 5.8 to 3.2 points, on the Watkins scale - from 7.2 to 5.7 points; ECOG functional status increased from 2.5 to 1.5 points. In 67 % of patients with neurological deficiency (class D by the Frankel scale), an increase in neurological status (class E by the Frankel scale) was observed. In all patients treated for osteoid osteoma, pain relief and restoration of functional status (0 points by the VAS and ECOG scales) were noted by the 6th month of follow-up.Conclusion. According to the data obtained, the high effectiveness of the analgesic effect of interventional methods in patients with metastatic bone damage was noted. The use of vertebro- and osteoplasty allows to stabilize the affected segment of the skeleton (improve functional status and motor activity), and radiofrequency thermoablation – to achieve radicality of treatment in patients with osteoid osteoma.

Conventional Chondrosarcoma in the Hyoid Bone: A Rare Case Report

Background: Chondrosarcoma is a rare malignant tumour of cartilaginous origin, with occurrences in the hyoid bone being exceedingly uncommon. Its rarity often complicates accurate diagnosis.Case Presentation: A 62-year-old male presented with a progressively enlarging, firm, non-tender lump below the left mandible. Despite imaging (CECT) suggesting Plasmacytoma or Giant Cell Tumor and FNAC indicating a salivary gland neoplastic lesion, a definitive diagnosis remained elusive. Excisional biopsy ultimately confirmed a grade 1 chondrosarcoma of the hyoid bone.Conclusion: This case highlights the diagnostic challenges of hyoid chondrosarcoma due to its nonspecific clinical and imaging features, emphasizing the importance of histopathology for accurate diagnosis and management.

Giant Cell Tumor of the Uterus: A Report and Review of the Literature.

Giant cell tumors are neoplasms that usually occur in the long bones of young adults. They can rarely present in the soft tissue and may display malignant behavior. Giant cell malignancies have previously been reported as tumors primary of the uterus but are exceptionally rare. Although uncommon, it is important to consider when a neoplasm with osteoclast-like giant cells is encountered. In this report, we describe a 70-year-old female patient with an unremarkable past history who presented with an enlarged uterus. Transvaginal ultrasound demonstrated multiple fibroids and a thickened endometrium. A biopsy diagnosis of a highgrade sarcoma was rendered and further refined in the surgical resection as malignant giant cell tumor of the uterus. In this case report, we describe the findings of this case and discuss the differential diagnosis of this entity.

Diagnostic Challenge of Localized Tenosynovial Giant Cell Tumor in Children

This report describes a rare case of a pediatric tenosynovial giant cell tumor (TSGCT) with a delayed diagnosis. A 9-year-old boy presented with a 3-month history of knee pain and swelling, initially attributed to a femoral non-ossifying fibroma and arthritis based on computed tomography findings and slightly elevated C-reactive protein levels. The symptoms persisted despite medical treatment. Magnetic resonance imaging (MRI) revealed a tumor in the posterior compartment. He underwent surgery, and the pathology confirmed the diagnosis of localized TSGCT. Six months postoperatively, the patient remained asymptomatic. Pediatric knee pain is a complex symptom associated with inflammatory conditions and benign and malignant tumors. Benign tumors, as in this case, can be misdiagnosed as arthritis, delaying diagnosis and treatment. MRI is recommended in cases involving symptom persistence. However, histopathological, immunohistochemical, and morphological examinations are crucial for definitive diagnosis, particularly when the imaging findings are inconclusive.

A case of long-term use of denosumab for giant cell tumor of bone

Giant cell tumor of bone is a locally aggressive primary bone neoplasm affecting patients aged 20–50 years. Neoplastic stromal cells have a phenotype of immature osteoblasts synthesizing various cytokines and molecular factors leading to excessive activation of osteoclastogenesis and increased osteolysis in giant cell tumor of bone. Long-term treatment with denosumab is recommended for unresectable or disseminated disease.A clinical case of long-term treatment with denosumab of initially generalized giant cell tumor of the right ischial bone with metastases to the lungs is presented. Stabilization of the process was first recorded 3 months after the start of therapy and has been maintained to date. The patient was transferred to a maintenance regimen 3 years after the start of treatment. The treatment was not accompanied by adverse events characteristic of bone-modifying agents.Long-term use of denosumab allowed effective control of the tumor process and maintenance of satisfactory quality of life of the patient. Maintenance regimen of denosumab administration was not accompanied by a decrease in treatment effectiveness.

Bilosomal Co-Encapsulated Tamoxifen and Propranolol for Potentiated Anti-Breast Cancer Efficacy: In Vitro and In Vivo Investigation.

Background/Objectives: Tamoxifen (TAM) is an anti-breast cancer drug suffering from acquired resistance development, prompting cancer relapse. Propranolol (PRO)'s repurposing for cancer therapy has gained interest. This work aimed to investigate combined TAM/PRO therapy for potentiating the anti-breast cancer activity of TAM. The work probed bilosomes versus standard noisome for simultaneous oral and intratumor delivery of TAM and PRO. Methods: Bilosomes comprising Span60, cholesterol, and increasing concentrations of bile salts were prepared together with bile salts containing free standard niosomes. The vesicular size and morphology were characterized. The entrapment and release efficiencies of TAM and PRO from the tailored vesicles were determined. The in vivo investigations of anti-tumor activity of TAM with or without PRO employed the solid Ehrlich carcinoma model. Results: The vesicles of all fabricated dispersions were spherical and negatively charged, with a size ranging from 104 to 182 nm. The entrapment efficiency depended on the nature of the drug, recording values ranging from 87.5% to 97.8% for TAM and from 31.0% to 46.8% for PRO. Incorporation of bile salts into vesicles increased TAM and PRO release compared to standard niosomes. Oral administration of combined TAM/PRO bilosomes showed a significant reduction in tumor growth volume compared to that recorded following naked drug administration. Histopathological investigations reflected a significant decline in tumor giant cells and mitotic figures, implying the in vivo capability of the TAM/PRO combination to interfere with cancer cell proliferation and persistence. Conclusions: The overall results demonstrated the impact of repurposed PRO to enhance the anti-breast cancer activity of TAM when both were co-encapsulated into bilosomes.

Vascularized fibular grafting following tumor resection demonstrates acceptable long-term outcomes in Denmark: a national retrospective cohort study.

Vascularized fibular grafting following tumor resection is an essential treatment option in limb salvage surgery. We aimed to evaluate: (I) bone healing, (II) complications and reoperations, (III) limb salvage, and (IV) survival. We present a retrospective evaluation of a national cohort comprising 27 patients. The indications were 13 cases of Ewing sarcoma, 12 cases of osteosarcoma, and 2 cases of giant cell tumor. The median age at surgery was 16 years (interquartile range [IQR] 10-18), and the median follow-up was 82 months (IQR 32-101). Patients were analyzed overall, as well as in subgroups based on tumor location (upper versus lower extremity) and pathology (osteosarcoma versus Ewing sarcoma). The primary rate of graft union was 63%, and after secondary procedures the overall rate of graft union was 67%, with a median time to union of 13 months (IQR 9-17). The reoperation rate was 74%, while the limb salvage rate was 93%. The 5-year overall survival rate was 81% (95% confidence interval [CI] 61-92). Patients with upper extremity tumors were more likely to attain graft union (risk ratio [RR] 5.5, CI 1.3-31.5) and less likely to undergo multiple reoperations (RR 0.3, CI 0.8-0.9) than patients with lower extremity tumors. Vascularized fibular grafting following tumor resection was associated with a graft union rate of 67%, a high frequency of reoperations, a high limb salvage rate (93%), and a 5-year survival rate of 81%.

The Effect of Denosumab on Pain and Radiological Improvement in Giant Cell Tumours of the Spine in the Acute Setting.

Retrospective Cohort Study. The current recommended treatment for Giant Cell Tumour (GCT) of the spine is en bloc excision. Denosumab is a monoclonal antibody reducing osteoclast activity that shows promising results when used as a neo - adjuvant treatment. However, the current literature remains limited. The purpose of this study was to assess the effect of denosumab on tumour characteristics and symptom relief in the acute phase of treatment of spinal GCT. We performed a retrospective review of 16 patients treated with denosumab as neo-adjuvant and stand - alone treatment. MRI and PET tumour characteristics were taken before and after treatment and patients were interviewed for subjective pain responses. Following treatment, all patients showed improvement of pain, of which 68.7% of patients were pain free with 43.75% noting improvement within 48hours. Mean relative volumetric reduction in tumour volume was 37.3% (P < .001). Eight patients showed high grade of Bilsky classification (Epidural spinal cord compression scale - ESCC) with seven of them showing significant improvement to low grade of ESCC (P = .016). Median baseline PET Standardised Uptake Value (SUV)max was 14.57 and post treatment was 4.8 (P < .001). This study provides necessary insight to the limited literature on the use of denosumab for spinal GCT in the acute phase. The clinical and radiographic responses observed demonstrate the critical role that neo-adjuvant denosumab has by reducing the tumour burden around critical adjacent neurovascular structures before eventual resection, significant pain improvement even with presence of fractured vertebra.

Peficitinib suppresses diffuse-type tenosynovial giant cell tumor by targeting TYK2 and JAK/STAT signaling.

Diffuse-type tenosynovial giant cell tumor (dTGCT) is a destructive but rare benign proliferative synovial neoplasm. Although surgery is currently the main treatment modality for dTGCT, the recurrence risk is up to 50%. Therefore, there is a great need for effective drugs against dTGCT with minor side effects. The Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling plays a central role in rheumatoid arthritis (RA), a disease with similar characteristics as dTGCT, but its function in dTGCT remains unknown. dTGCT fibroblast-like synoviocytes (FLS) and macrophages were isolated from 10 synovial tissue samples from dTGCT patients for the screening and validation of the five clinically approved JAK inhibitors to treat RA against dTGCT. Cell viability, cell death, inflammation and the activity of the JAK family members of cultured dTGCT FLS (both 2-D and 3-D) and macrophages were investigated for the efficacy of the JAK inhibitors. Here, we found that similar to RA, JAK/STAT signaling was markedly activated in the dTGCT synovium. Of the 5 JAK inhibitors, peficitinib was shown to have the most potency in addressing some of the pathological responses of dTGCT FLS and macrophages. The potency of peficitinib was much higher than pexidartinib, which is the only FDA-approved drug for dTGCT. Mechanistically, peficitinib inhibited tyrosine kinase 2 (TYK2), a JAK family member necessary for the pathological progression of dTGCT FLS and macrophages. In summary, we not only revealed JAK/STAT (especially TYK2) signaling as the major mechanism underlying dTGCT, but also identified peficitinib as a promising drug against dTGCT.

Primary malignant giant cell tumor (PMGCT): Diagnosis and management challenges in low resource settings

Bone primary malignant giant cell tumor (PMGCT) cases are extremely rare, and the optimal management remains unclear. This case report details the diagnosis and successful management of PMGCT in a 45-year-old female presenting with left knee pain, swelling, and restricted movement for one year. Accompanying weight loss and loss of appetite led the patient to seek tertiary care after unsuccessful prior treatment. Imaging, including X-ray and magnetic resonance imaging (MRI), revealed a tumor measuring 7.9 × 7.7 × 6.6 cm, and histopathological examination using fine needle aspiration cytology confirmed the diagnosis of PMGCT. A multidisciplinary approach was taken, involving orthopedic surgery to remove the tumor successfully, and physiotherapy for post-operative care. The patient underwent tumor excision and curettage under spinal and epidural anesthesia, followed by a week of bed rest, and then physiotherapy was started to aid in limb mobilization. Post-operative care involved blood transfusions, femoral artery stenting, continued physiotherapy and adjuvant radiotherapy, initiated two weeks post-surgery, with a total dose of 50 Gy delivered in 25 sessions to reduce the risk of recurrence. Initial monthly follow-ups, later transitioning to quarterly, showed improved joint mobility and function, with no recurrence at the 9-month follow-up. This case highlights the importance of early diagnosis and a multidisciplinary approach in managing PMGCT. Collaboration across specialties contributed to the positive outcome, even in a resource-limited setting. Long-term monitoring remains essential to detect recurrence, and further research is needed to refine treatment strategies for malignant GCTs.

Keratin Positive Giant Cell Rich Tumor of the Pelvic Bone with a HMGA2::NCOR2 Fusion: A Case Report.

Keratin positive giant cell rich tumor is a rare mesenchymal tumor first described in 2025. It can occur in both soft tissue and bone and predominantly affects young women. The tumor's biological behavior remains uncertain despite its low-grade classification. Characterized by keratin expression and a HMGA2::NCOR2 gene fusion, keratin positive giant cell rich tumors resemble conventional giant cell tumors but lacks H3-3A gene mutations. This article presents a 31-year-old woman with a keratin positive giant cell rich tumor in the pelvic bone, detailing her clinical presentation, diagnostic process, treatment, and postoperative recovery. Histological examination revealed numerous osteoclast-like giant cells within a mononuclear stroma, with RNA sequencing confirming the HMGA2::NCOR2 fusion. The patient's management included surgical resection, with no recurrence at six months follow-up. The discussion emphasizes the need for further research to understand keratin positive giant cell rich tumors pathogenesis and explore potential targeted therapies.

A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature.

Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB's molecular hallmark is the somatic mutation p.Gly34Trp, at the H3F3A gene (H3.3 p.Gly34Trp mutation), but in this case, the mutation H3.3 p.Gly35Trp was identified. Case Presentation: A 9-year-old female presented with progressive ocular pain, ptosis, and diplopia. MRI revealed a 42 × 32 × 30 mm mass in the clivus and sphenoid body. The patient underwent partial resection, and histology confirmed GCTB. Molecular testing revealed the presence of the H3.3 p.Gly35Trp mutation, and we demonstrate that this is the true mutation associated with GCTB, not the previously described (H3.3 p.Gly34Trp). Due to residual tumor tissue, the patient was treated with Denosumab, a RANKL inhibitor. During a 2-year follow-up, the tumor size stabilized, and no significant adverse effects were observed. Conclusion: This case represents the first pediatric clival GCTB harboring the H3.3 p.Gly35Trp mutation. Molecular diagnostics played a crucial role in confirming the diagnosis and demonstrating that the true mutation harbored by GCTB is H3.3 p.Gly35Trp and not the formerly described (H3.3 p.Gly34Trp). Denosumab therapy effectively controlled the tumor without major side effects, although long-term treatment duration and safety require further study.

Do Unresectable Giant Cell Tumors of Bone Treated With Denosumab Progress After Discontinuation of Treatment?

Denosumab represents a valuable treatment option for unresectable giant cell tumors of the bone (GCTBs). However, no standardized protocols exist determining the length of administration, with few studies having been published on patients who reached the end of treatment. To analyze the outcomes of patients diagnosed with GCTB and who had finished single treatment with denosumab. This is a multicenter, retrospective, descriptive study carried out in seven Spanish hospitals with multidisciplinary sarcoma and musculoskeletal tumor boards, between 2009 and 2019. Sixteen patients diagnosed with unresectable GCTBs and treated with denosumab who had reached the end of their treatment were recruited for the study and had been followed up for a minimum of 2 years. Fifty percent of patients discontinued denosumab after showing signs of tumor control. The disease remained stable in 69% of patients (n = 11), with a median recurrence-free survival time of 46 months (20-157 months) after being treated for a median period of 19 months (5-83 months). Four patients experienced local progression, and one presented multifocal progression. These five patients were treated for a median period of 46 months (14-76 months), with a median recurrence-free survival time of 9 months (5-25 months). The findings of the present study suggest that discontinuation of denosumab in patients with unresectable GCTB is not necessarily associated with the progression of the disease. Further research is needed to determine how long denosumab should be administered to minimize the risk of recurrence.