RESUMO
Sporadic giant cell granulomas (GCGs) of the jaws and cherubism-associated giant cell lesions share histopathological features and microscopic diagnosis alone can be challenging. Additionally, GCG can morphologically closely resemble other giant cell-rich lesions, including non-ossifying fibroma (NOF), aneurysmal bone cyst (ABC), giant cell tumour of bone (GCTB), and chondroblastoma. The epigenetic basis of these giant cell-rich tumours is unclear and DNA methylation profiling has been shown to be clinically useful for the diagnosis of other tumour types. Therefore, we aimed to assess the DNA methylation profile of central and peripheral sporadic GCG and cherubism to test whether DNA methylation patterns can help to distinguish them. Additionally, we compared the DNA methylation profile of these lesions with those of other giant cell-rich mimics to investigate if the microscopic similarities extend to the epigenetic level. DNA methylation analysis was performed for central (n = 10) and peripheral (n = 10) GCG, cherubism (n = 6), NOF (n = 10), ABC (n = 16), GCTB (n = 9), and chondroblastoma (n = 10) using the Infinium Human Methylation EPIC Chip. Central and peripheral sporadic GCG and cherubism share a related DNA methylation pattern, with those of peripheral GCG and cherubism appearing slightly distinct, while central GCG shows overlap with both of the former. NOF, ABC, GCTB, and chondroblastoma, on the other hand, have distinct methylation patterns. The global and enhancer-associated CpG DNA methylation values showed a similar distribution pattern among central and peripheral GCG and cherubism, with cherubism showing the lowest and peripheral GCG having the highest median values. By contrast, promoter regions showed a different methylation distribution pattern, with cherubism showing the highest median values. In conclusion, DNA methylation profiling is currently not capable of clearly distinguishing sporadic and cherubism-associated giant cell lesions. Conversely, it could discriminate sporadic GCG of the jaws from their giant cell-rich mimics (NOF, ABC, GCTB, and chondroblastoma).
Assuntos
Neoplasias Ósseas , Querubismo , Condroblastoma , Tumor de Células Gigantes do Osso , Granuloma de Células Gigantes , Humanos , Querubismo/diagnóstico , Querubismo/genética , Querubismo/patologia , Granuloma de Células Gigantes/diagnóstico , Granuloma de Células Gigantes/genética , Granuloma de Células Gigantes/patologia , Condroblastoma/diagnóstico , Condroblastoma/genética , Condroblastoma/patologia , Metilação de DNA , Células Gigantes/patologia , Tumor de Células Gigantes do Osso/diagnóstico , Tumor de Células Gigantes do Osso/genética , Tumor de Células Gigantes do Osso/patologia , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Arcada Osseodentária/patologiaRESUMO
ABSTRACT Peri-articular giant cell tumours present a unique challenge to the orthopaedic surgeon due to their locally aggressive nature. Native joint-preserving options confer less morbidity in comparison to radical excision and reconstruction; however, recurrence rates tend to be higher. The use of polymethyl methacryllate (PMMA) decreases the recurrence rate, but it has potentially devastating effects on the articular cartilage. To safeguard against this, the use of an insulating layer between the PMMA and the articular cartilage may be utilized with the goal of protecting the latter and is referred to as the Sandwich technique.
RESUMEN Los tumores de células gigantes periarticulares representan un desafío único al cirujano ortopédico debido a su naturaleza localmente agresiva. Las opciones de conservación de las articulaciones nativas confieren menos morbilidad en comparación con la supresión y reconstrucción radicales. Sin embargo, las tasas de recurrencia tienden a ser más altas. El uso de polimetilmetacrilato (PMMA) disminuye la tasa de recurrencia, pero tiene efectos potencialmente devastadores sobre el cartílago articular. Para protegerlo, el uso de una capa aislante entre el PMMA y el cartílago articular puede ser utilizarse con el objetivo de proteger este último, lo que se conoce como la técnica del sándwich.
Assuntos
Humanos , Masculino , Adolescente , Neoplasias Ósseas/cirurgia , Tumor de Células Gigantes do Osso/cirurgia , Polimetil Metacrilato/administração & dosagem , Articulação do Joelho , Neoplasias Ósseas/diagnóstico por imagem , Resultado do Tratamento , Tumor de Células Gigantes do Osso/diagnóstico por imagem , Salvamento de MembroRESUMO
Giant cell tumours (GCT) of the skull is a rare entity with only small number of cases reported in literature and optimal treatment is yet to be determined. These tumours have shown high recurrence rates after incomplete surgery, usually occurring during the first year. Even with new surgical techniques a complete resection in skull base tumours is not always possible without functional compromise. Therefore, adjuvant therapy is essential to enhance local control and quality of life. We report a rare case of a 34-year-old male with giant cell tumour (GCT) of the skull base involving the petrous bone, clivus and sphenoid body. The patient received Cyberknife stereotactic radiosurgery (CK SRS) and denosumab after surgery. This combined therapy allowed local control and tumour reduction with secondary neurological improvement during a 4-year follow up.
RESUMO
INTRODUCTION: This study aimed to describe the magnetic resonance imaging (MRI) features of giant-cell tumours of bone. METHODS: We analysed the clinical and MRI features of patients diagnosed with giant-cell tumours of bone confirmed by histopathology at our institution between 2010 and 2012. RESULTS: The peak incidence was between the second and third decades of life. There was no gender predominance. The most frequent locations were the knee and wrist. Pain and swelling were the prevailing symptoms. Fifty-one per cent of the patients were found to have associated secondary aneurysmal bone cysts on histopathology. On MRI, lesions demonstrated signal intensity equal to that of skeletal muscle on T1-weighted images and low signal intensity on T2-weighted images in 90% of cases. In gadolinium-enhanced T1-weighted images, 76.6% of cases demonstrated heterogeneous enhancement. We observed cystic components involving more than 50% of the lesion in 17 cases (56.6%). There was extra-osseous involvement in 13 cases (43.3%). CONCLUSION: MRI offers a valuable diagnostic tool for giant-cell tumours of bone. Contrast-enhanced MRI can distinguish between cystic and solid components of the tumour. MRI is also the imaging modality of choice for evaluation of soft-tissue involvement, offering a complete preoperative diagnosis.