Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone

To validate the reliability and implementation of an objective diagnostic method for giant cell tumour of bone (GCTB). H3-3A gene mutation testing was performed using two different methods, Sanger sequencing and immunohistochemical (IHC) assays. A total of 214 patients, including 120 with GCTB and 94 with other giant cell-rich bone lesions, participated in the study. Sanger sequencing and IHC with anti-histone H3.3 G34W and G34V antibodies were performed on formalin-fixed, paraffin-embedded tissues, which were previously decalcified in EDTA if needed. The sensitivity and specificity of the molecular method was 100% (95% CI: 96.97–100%) and 100% (95% CI: 96.15–100%), respectively. The sensitivity and specificity of IHC was 94.32% (95% CI: 87.24–98.13%) and 100% (95% CI: 93.94–100.0%), respectively. P.G35 mutations were discovered in 2/9 (22.2%) secondary malignant GCTBs and 9/13 (69.2%) GCTB after denosumab treatment. We confirmed in a large series of patients that evaluation of H3-3A mutational status using direct sequencing is a reliable tool for diagnosing GCTB, and it should be incorporated into the diagnostic algorithm. Additionally, we discovered IHC can be used as a screening tool. Proper tissue processing and decalcification are necessary. The presence of the H3-3A mutation did not exclude malignant GCTB. Denosumab did not eradicate the neoplastic cell population of GCTB.

Central Odontogenic Fibroma Accompanied by a Central Giant Cell Granuloma-Like Lesion: Report of a Case and Review of Literature

Central giant cell granuloma (CGCG) is a benign non-neoplastic intraosseous lesion mainly found in the anterior mandible. It is characterized by multinucleated giant cells, representing osteoclasts or macrophages. Central odontogenic fibroma (COF) is an uncommon benign lesion of the jaws. It originates from the odontogenic ectomesenchyme. In rare cases, COF may accompany a CGCG. To date, 49 cases of COF accompanied by CGCG-like lesions have been reported in the literature. In this paper, we present another case of COF-CGCG in a 46-year-old female. The lesion was located in the posterior mandible. Excisional biopsy was carried out, and histopathological analysis revealed multinucleated giant cells with numerous strands of odontogenic epithelium. A literature review of previously reported cases was also performed.

En bloc resection and vascularized ulnar pedicle graft reconstruction with plate fixation for giant cell tumour of the distal radius

We retrospectively reviewed the medical records of ten patients (five men and five women) who were treated in our unit for Campanacci Grade III giant cell tumour of the distal radius between July 2017 and December 2019. Following en bloc resection of a giant cell tumour of the distal radius, the wrist was reconstructed by transposing a vascularized pedicle graft from the ipsilateral ulnar shaft. The graft was fixed to the radial shaft and proximal carpal row with plates. At a mean follow-up of 23.5 months (range 18 to 31), bony union was achieved in all cases and there were no tumour recurrences. All patients had a good range of pronation and supination, but flexion and extension of the wrist was limited. DASH scores ranged from 5 to 11. This reconstruction method is a safe and effective procedure that provides good aesthetic outcomes, removes the need for microvascular techniques and reduces donor site morbidity. Level of evidence: IV

Temporal Artery Vascular Diseases

In the presence of temporal arteritis, clinicians often refer to the diagnosis of giant cell arteritis (GCA). However, differential diagnoses should also be evoked because other types of vascular diseases, vasculitis or not, may affect the temporal artery. Among vasculitis, Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis is probably the most common, and typically affects the peri-adventitial small vessel of the temporal artery and sometimes mimics giant cell arteritis, however, other symptoms are frequently associated and more specific of ANCA-associated vasculitis prompt a search for ANCA. The Immunoglobulin G4-related disease (IgG4-RD) can cause temporal arteritis as well. Some infections can also affect the temporal artery, primarily an infection caused by the varicella-zoster virus (VZV), which has an arterial tropism that may play a role in triggering giant cell arteritis. Drugs, mainly checkpoint inhibitors that are used to treat cancer, can also trigger giant cell arteritis. Furthermore, the temporal artery can be affected by diseases other than vasculitis such as atherosclerosis, calcyphilaxis, aneurysm, or arteriovenous fistula. In this review, these different diseases affecting the temporal artery are described.

A Surgical Approach to Giant Cell Tumor of Lower End of Tibia with Curettage and Reconstruction by Bone Grafting Harvested from Left Iliac Crest and K-wire Fixation: A Case Report

Introduction: Giant cell tumor (GCT) is a distinctive lesion characterized by the proliferation of multinucleate giant cells in a stroma of mononuclear cells; it is generally seen in skeletally mature individuals. GCT is usually found in the long bones around the knee or in the distal radius but distal end of tibia, proximal humerus, vertebrae of young adults are unusual location. We report a case of GCT of the distal end of tibia, with a secondary aneurysmal bone cyst, in a 26-year-old female. Based on our review of the medical literature, it appears that the occurrence of a GCT along with a secondary aneurysmal bone cyst (ABC) in distal end of tibia is less typical with challenging task for full tumor resection and restoration of ankle function to normal. Case Summary: 26 year old female presented with pain&swelling over left ankle since last six month. Biopsy was suggestive of GCT with ABC of lower third tibia. We managed this case with intralesional curettage using phenol and burr and bone graft harvested from left iliac crest for reconstruction of defect along with kwire fixation to achieve optimum anatomical restoration. Conclusion: In cases of GCT, the management depends upon the various factors such as site, age, involvement of the bone, extent of bone involvement and whether there is articular involvement or not. Here Intra-articular GCT is managed with extended intralesional curettage with phenol. Bone graft plays a role of agent for reconstruction of the defect and kwire for anatomical reduction.