RESUMO
Like malignant fibrous histiocytoma (MFH), dedifferentiated liposarcoma represents a distinct subtype of liposarcoma and is characterized by an abrupt transition from well-differentiated liposarcoma (WDL) to highgrade dedifferentiated liposarcoma (DDL) . In addition, specific cytogenetic aberrations support the close biological relationship between WDL and DDL. Recent observations indicated the significance of cell cycle aberrations in tumor progression from the low-malignant, well differentiated to its dedifferentiated form, the prognosis of which is poor. Thus, alterations of mdm2 and p53 genes belong to the most frequently reported alterations in these two subtypes of liposarcoma. In previous investigations, we reported that loss of heterozygosity at the Rb gene locus, telomerase activity, hTERT, and c-Myc expression were associated with tumor progression in liposarcomas. In this study, we report on a case of a WD/DDL, in which both tumor components were separated using laser microdissection (P.A.L.M.) for the investigation of hTERT mRNA expression on a LightCycler. Macroscopically selected and histologically proven cryosections of low malignant and highly malignant tumor areas were cytogenetically investigated to confirm the diagnosis and to find additional chromosomal alterations with tumor progression.
Assuntos
DNA de Neoplasias/análise , Perfilação da Expressão Gênica , Lipossarcoma/genética , RNA Mensageiro/análise , Neoplasias Torácicas/genética , Idoso , Aberrações Cromossômicas , Análise Mutacional de DNA , DNA de Neoplasias/isolamento & purificação , Proteínas de Ligação a DNA , Progressão da Doença , Dissecação/métodos , Humanos , Lasers , Lipossarcoma/patologia , Masculino , Reação em Cadeia da Polimerase , Telomerase/genética , Neoplasias Torácicas/patologia , Tomografia Computadorizada por Raios X , Transcrição GênicaRESUMO
A male newborn with severe congenital abnormalities is described with a de-novo translocation 16;21 resulting in trisomy 16q. Clinical features were consistent with trisomy 16q cases reported in the literature. Molecular analysis indicate a formation mechanism of the rearrangement restricted to postzygotic mitosis. Therefore, a low recurrence risk for the parents could be delineated.