RESUMO
Pagetoid osteosarcoma is a complication of Paget's disease of bone. Sarcomatous transformation is most often seen in severe, long-standing Paget's disease. Familial clustering of Paget's disease has been described with apparent autosomal dominant inheritance with high penetrance by the sixth decade. Although definitive proof of the specific gene involved remains elusive, some researchers have shown loss of heterozygosity in a region of chromosome 18q in a relatively high percentage of studied patients affected with either Paget's disease alone, in Pagetoid osteosarcoma, and in uncomplicated osteosarcoma. Our patient was diagnosed with Pagetoid osteosarcoma and had a first-degree relative with history of the same. We hypothesized that our patient's tumor samples might contain a similar genetic abnormality. Our analysis of several polymorphic markers from the chromosome 18q21-22 region showed loss of maternally inherited alleles throughout the region. This finding is similar to those described previously and provides further evidence of a susceptibility region relating to this disease. This report describes a father and son, their young ages at diagnosis of Pagetoid sarcoma, the identical sites of disease involvement, and a loss of heterozygosity study illustrating the inheritance of the presumed defective gene.
Assuntos
Neoplasias Ósseas/genética , Cromossomos Humanos Par 18/genética , Perda de Heterozigosidade/genética , Repetições de Microssatélites/genética , Osteíte Deformante/genética , Osteossarcoma/genética , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/etiologia , Evolução Fatal , Fêmur/patologia , Ligação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Osteíte Deformante/complicações , Osteíte Deformante/diagnóstico , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/patologia , Linhagem , RadiografiaRESUMO
Chondroid lipoma is a rare, recently described soft tissue tumor that mimics extraskeletal chondrosarcoma and myxoid liposarcoma. Reports regarding its cytologic and radiological features are sparse. In this report, we describe the cytologic features of this unusual tumor, which include mixed mature lipocytes and lipoblast-like cells embedded in chondromyxoid matrix. We also describe the "target sign appearance" of this tumor in magnetic resonance imaging studies, resembling a neurogenic tumor. More importantly, we demonstrate that a definitive diagnosis of this unusual tumor can be made by fine-needle aspiration biopsy. The usefulness of cell block in fine-needle aspiration biopsy diagnosis of soft tissue tumors is emphasized.
Assuntos
Lipoma/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Biópsia por Agulha , Diagnóstico Diferencial , Humanos , Lipoma/diagnóstico , Lipoma/cirurgia , Imageamento por Ressonância Magnética , Masculino , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgiaRESUMO
Osteosarcoma is a frequently fatal complication of Paget's disease of bone typically manifesting radiographically as a lytic lesion with soft tissue extension. A clinically worrisome, but benign manifestation of Paget's disease simulating malignancy because of an extraosseous mass is reported.