RESUMO
Giant cell tumor of bone (GCTB) is a benign neoplasm but occasionally shows local recurrence, and histologically consists of osteoclast-like giant cells (GC) and stromal mononuclear cells (SC), which are capable of proliferation and osteoblastic differentiation. Activation of Wnt signaling can induce osteoblast differentiation and osteoclastgenesis during bone resorption process. This study analyzed the profiles of beta-catenin and cyclin D1 expression in GCTB to elucidate an involvement of Wnt pathway in tumorigenesis. We performed immunohistochemistry for beta-catenin, cyclin D1, and Ki-67 in 16 GCTB tumors, including 5 recurrent cases that were surgically resected. All 16 cases of GCTB displayed beta-catenin, cyclin D1, and Ki-67 expression. Immunoreactivity for beta-catenin was observed in nuclei of SC and GC. Cyclin D1 immunoreactivity was found mainly in nuclei of GC, while Ki-67 immunoreactivity was restricted to nuclei of SC. The nuclear beta-catenin labeling index (LI) in both SC (60.6 vs. 41.8%, p=0.074) and GC (41.7 vs. 20.1%, p=0.095) was higher in recurrent tumors than in primary tumors in all the 4 cases. However, Ki-67 LI in SC (18.8 vs. 19.9%, p=0.851) and cyclin D1 LI in GC (55.4 vs. 70.1%, p=0.225) were not higher in recurrent tumors than in primary tumors. Our results suggested activation of Wnt/ beta-catenin pathway in GCTB tumorigenesis. Since cyclin D1 in GC was never associated with the expression of the well-known proliferative marker Ki-67, cyclin D1 expression might play a role in GC formation instead of promoting cell proliferation during GCTB tumorigenesis. Importantly, it was suggested that the nuclear beta-catenin staining level might be associated with tumor recurrence in GCTB.
Assuntos
Neoplasias Ósseas/metabolismo , Ciclina D1/biossíntese , Tumor de Células Gigantes do Osso/metabolismo , Proteínas Wnt/metabolismo , beta Catenina/biossíntese , Adolescente , Adulto , Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Núcleo Celular/metabolismo , Ciclina D1/genética , Feminino , Expressão Gênica , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Tumor de Células Gigantes do Osso/genética , Tumor de Células Gigantes do Osso/patologia , Humanos , Imuno-Histoquímica , Antígeno Ki-67/biossíntese , Antígeno Ki-67/genética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/metabolismo , Transdução de Sinais/fisiologia , Proteínas Wnt/genética , Adulto Jovem , beta Catenina/genéticaRESUMO
Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.
Assuntos
Povo Asiático/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/patologia , Criança , Cromograninas , Humanos , Japão , Masculino , Ossificação Heterotópica/genética , RadiografiaRESUMO
Knee rotationplasty was initially proposed for the reconstruction of the knee joint in the congenital hypoplasia of the femur. Its application was extended to functional reconstruction of the knee joint after wide resection of malignant bone or soft tissue tumor around the knee. It has also been shown to salvage a failed knee-sparing surgery due to infection or the aseptic loosening of the prosthesis. Hip rotationplasty has been described as a method for the reconstuction of hip function, as well as in the knee joint, in the case of a primary malignant tumor of the proximal part of the femur in children. It has also been described as having a surgical application for the severe congenital deficiency of the proximal part of the femur to reconstruct hip and knee joints, as well as for the massive bone defect of the proximal part of the femur due to infection to mimic a functional femoral shaft. This article reports a case where the hip joint was secondarily reconstructed with hip rotationplasty after subtotal resection of the femur due to infection of the hip hemiarthroplastic prosthesis and osteomyelitis of the hip joint and femur.
Assuntos
Antibacterianos/administração & dosagem , Artroplastia/métodos , Cimentos Ósseos/uso terapêutico , Implantes de Medicamento/administração & dosagem , Prótese de Quadril/efeitos adversos , Infecções Relacionadas à Prótese/prevenção & controle , Infecções Estafilocócicas/etiologia , Infecções Estafilocócicas/prevenção & controle , Artroplastia/instrumentação , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação/métodos , Resultado do TratamentoRESUMO
In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.
