RESUMO
We identified a novel familial case of clear-cell renal cancer and a t(3;6)(q12;q15). Subsequent cytogenetic and molecular analyses showed the presence of several abnormalities within tumour samples obtained from different patients. Loss of the der(3) chromosome was noted in some, but not all, of the samples. A concomitant VHL gene mutation was found in one of the samples. In addition, cytogenetic and molecular evidence for heterogeneity was obtained through analysis of several biopsy samples from one of the tumours. Based on these results and those reported in the literature, we conclude that loss of der(3) and subsequent VHL gene mutation may represent critical steps in the development of renal cell cancers in persons carrying the chromosome 3 translocation. Moreover, preliminary data suggest that other (epi)genetic changes may be related to tumour initiation.
Assuntos
Carcinoma de Células Renais/genética , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 6/genética , Neoplasias Renais/genética , Translocação Genética/genética , Adulto , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem/métodos , Perda de Heterozigosidade/genética , Masculino , Pessoa de Meia-Idade , Hibridização de Ácido Nucleico/métodos , Linhagem , Células Tumorais CultivadasRESUMO
We report, for the first time, the cytogenetic and molecular genetic constitution of a human mesenchymoma. As in several other soft tissue sarcomas, supernumerary ring and rod-shaped marker chromosomes were observed next to an otherwise normal diploid karyotype. Comparative genomic in situ hybridization and whole chromosome painting experiments revealed that chromosome 1q21-q25 and 12q14-q15 sequences were amplified, and that these sequences resided on the supernumerary marker chromosomes. We assume that, in this malignant mesenchymoma, the observed chromosomal anomalies may be associated with its well differentiated liposarcomatous component.
Assuntos
Mesenquimoma/genética , Mesenquimoma/patologia , Neoplasias Musculares/genética , Neoplasias Musculares/patologia , Cromossomos em Anel , Nádegas , Condrossarcoma/genética , Condrossarcoma/patologia , Feminino , Humanos , Hibridização In Situ/métodos , Cariotipagem , Lipossarcoma/genética , Lipossarcoma/patologia , Mesenquimoma/cirurgia , Pessoa de Meia-IdadeAssuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Biópsia , Citoplasma/ultraestrutura , Antebraço , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Poliploidia , Tumor Rabdoide/secundário , Neoplasias de Tecidos Moles/secundárioRESUMO
Cytogenetic analysis of a metastasis of a human testicular germ cell tumor (seminoma) revealed multiple numerical and structural anomalies, including an abnormally banding region (ABR) present on the short arm of one of the chromosome 12 homologs. Fluorescence in situ- and comparative genomic hybridization experiments revealed that the ABR results from the amplification of 12p11.2-p12.1 derived sequences. We speculate that this particular region may harbor gene(s) relevant for testicular germ cell tumor progression.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Amplificação de Genes , Seminoma/genética , Neoplasias Testiculares/genética , Adulto , DNA de Neoplasias/análise , Humanos , Hibridização in Situ Fluorescente , Masculino , Seminoma/secundário , Neoplasias Testiculares/patologiaRESUMO
Cytogenetic analysis of unstimulated bone marrow (BM) and peripheral blood (PB) cells of a patient with clinical features of atypical chronic myeloid leukemia (CML) showed t(12;22)(p13;q12) as the sole karyotypic abnormality. Subsequent fluorescence in situ hybridization (FISH) with abl- and bcr-specific cosmids as well as chromosome 12- and 22-specific DNA libraries and Southern blot analysis confirmed that in this patient t(12;22) does not constitute a cryptic Ph variant. Recently, a few very similar cases were reported by other investigations. The possible significance of this translocation as a new cytogenetic marker for nonlymphocytic leukemia is discussed.