RESUMO
Although fibrous dysplasia (FD) is a benign fibro-osseous lesion, locally aggressive behaviour has rarely been described but is poorly characterised. In this study, we document clinical, radiological and pathological (including molecular genetics) findings in three cases of locally aggressive FD, two of which involved the ribs. Lesions in these cases, one of which was a recurrent lesion, were followed up for 2-7 years. All of the lesions showed typical histological features of FD but were characterised by extension through the bone cortex into the extra-osseous soft tissue. The lesions did not exhibit overexpression/amplification of CDK4 and MDM2; in two of the cases, a GNAS mutation was identified. Our findings confirm that FD can rarely exhibit locally aggressive behaviour with extension beyond the bone compartment into the surrounding soft tissue; these lesions can be distinguished from low-grade intramedullary osteosarcoma by lack of amplification/overexpression of CDK4 and MDM2 and the presence of a GNAS mutation.
Assuntos
Displasia Fibrosa Óssea/patologia , Adulto , Idoso , Proteínas de Ciclo Celular , Quinase 4 Dependente de Ciclina/análise , Feminino , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/genética , Displasia Fibrosa Óssea/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/análise , Proteínas Proto-Oncogênicas/análise , Tomografia Computadorizada por Raios XAssuntos
Biomarcadores Tumorais/genética , Neoplasias Musculares/genética , Proteínas de Fusão Oncogênica/genética , Sarcoma Sinovial/genética , Adulto , Sequência de Bases , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Masculino , Dados de Sequência Molecular , Transcrição Gênica/genéticaRESUMO
Neuroradiologic, neuropathologic and immunohistochemical features are reported in a young man with a impairment of the central nervous system mimicking an acute diffuse encephalomyelitis. A white male, 17 years old, healthy till 4 months before, when developed a right hemiparesis and after 2 months a bilateral hemiparesis with a progressive impairment of several cranial nerves. Magnetic resonance imaging showed multiple lesions without a mass effect that suggested myelin loss. He remained unconscious for almost one month before dying of pneumonia. The neuropathologic examination showed a heavy brain (1505 g) with herniations and a large right midbrain. There were several soft and pink areas mainly at the right midbrain, left cerebellum and in the white matter of the left cerebral hemisphere. The histopathologic sections showed diffuse blastomatous proliferation without total replacement or destruction of the original tissue. The tumor cells had astrocytic, oligodendrocytic and spongioblastic phenotypes, some of them with a GFAP-positive reactivity. There were focal anaplastic changes. The diagnosis of "gliomatosis cerebri" was only possible by the autopsy.
