Assuntos
Lipossarcoma/diagnóstico por imagem , Neoplasias do Mediastino/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Idoso de 80 Anos ou mais , Quinase 4 Dependente de Ciclina/genética , Evolução Fatal , Humanos , Biópsia Guiada por Imagem , Hibridização in Situ Fluorescente , Lipossarcoma/genética , Lipossarcoma/patologia , Lipossarcoma/cirurgia , Masculino , Neoplasias do Mediastino/genética , Neoplasias do Mediastino/patologia , Neoplasias do Mediastino/cirurgia , Proteínas Proto-Oncogênicas c-mdm2/genéticaAssuntos
Carcinoma Basocelular/genética , Predisposição Genética para Doença , Melanoma/genética , Neoplasias Cutâneas/genética , Idoso , Biópsia , Carcinoma Basocelular/complicações , Carcinoma Basocelular/patologia , Seguimentos , Marcadores Genéticos , Humanos , Masculino , Melanoma/complicações , Melanoma/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologiaAssuntos
Chaperonas Moleculares/genética , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Par 7/genética , Rearranjo Gênico , Humanos , Cariotipagem , PrognósticoRESUMO
BACKGROUND: Most primary intracranial tumors occur as solitary lesions; multiple locations of one tumor, the occurrence of two different tumors or even collision tumors have been described only in a few patients. From a statistical point of view, in less than 100 glioblastoma cases will a meningioma be simultaneously present in the brain. We report three cases with this coincidence and display the results of CGH and chromosome analysis in two patients, in whom the tumors arose in very close spatial correlation to each other. PATIENTS: We describe three case histories with simultaneous occurrence of meningioma and glioblastoma as shown by MRI on admission. After neurosurgical removal of mass lesions, specimens from two patients were cultivated in cell culture and the cells were examined for chromosomal aberrations by conventional karyotyping as well as comparative genomic hybridization (CGH). RESULTS: Examinations disclosed characteristic genetic aberrations for one meningioma and two glioblastomas. In one patient it was possible to compare the data for the meningioma and the glioblastoma; in this case we did not find a common genetic aberration in tumor cells with a different histology. CONCLUSION: Genetic testing of tumor cells should be performed routinely when different histological types of brain tumors are present in a close spatial relationship. We favor the hypothesis of statistical coincidence for the simultaneous occurrence of the two tumors rather than a common pathway giving rise to two tumor entities.
Assuntos
Neoplasias Encefálicas/complicações , Glioblastoma/complicações , Meningioma/complicações , Idoso , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirurgia , Células Cultivadas , Aberrações Cromossômicas , Cromossomos/genética , Feminino , Glioblastoma/genética , Glioblastoma/cirurgia , Humanos , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Meningioma/genética , Meningioma/cirurgia , Pessoa de Meia-IdadeRESUMO
Phosphoinositide 3-kinase (PI3-K) is a heterodimeric enzyme involved in the regulation of mitogenesis, apoptosis, cell adhesion, and motility. PI3-K was suggested as a protooncogene in human cancer. To determine the expression of PI3-K during cancerogenesis and tumor invasion of HNSCC, we investigated normal and dysplastic epithelium of the oral cavity, squamous cell carcinoma and lymph node metastasis by immunohistochemistry. The strongest immunoreactivity for p85alpha and p110alpha was found in invasive tumors and their metastases. Carcinomas in situ showed a focal positivity. Dysplasias and normal epithelium reacted predominantly negatively. The PI3-K inhibitor LY294002 inhibited proliferation and invasion of the HNSCC cell line CAL-27 and induced apoptosis in vitro. Our data suggest PI3-K as a marker of malignancy and tumor invasion. We suggest including PI3-K in the multistep carcinogenesis model of HNSCC. In addition, PI3-K is a potential target for pharmacological intervention.
Assuntos
Carcinoma de Células Escamosas/genética , Neoplasias Bucais/genética , Fosfatidilinositol 3-Quinases/genética , Apoptose , Carcinoma de Células Escamosas/enzimologia , Divisão Celular , Movimento Celular , Humanos , Neoplasias Bucais/enzimologia , Proto-OncogenesRESUMO
We present cytogenetic and clinical data on 38 patients with supernumerary marker chromosomes (SMCs). SMCs were characterized using a strategy combining classical banding techniques and molecular cytogenetic studies. Cases were ascertained prenatally, postnatally, and after fetal death. In 26 patients (68%), the SMC originated entirely from acrocentric chromosomes. Among these, most patients carried a der(15). In 11 patients (29%), they were of nonacrocentric origin, including 9 autosomal and 2 gonosomal marker chromosomes. In 1 patient the SMC was of partially acrocentric origin. Patients with small derivatives of chromosome 15 [der(15)] had a normal phenotype. Those with a larger der(15) showed phenotypical abnormalities. Patients with supernumerary marker chromosomes derived from chromosomes 13 or 21, and 14 appeared to have a low risk of abnormalities. Out of this group only 1 patient who carried an additional r(21) had physical anomalies. Patients with an SMC originating from chromosome 22 showed physical abnormalities in 2 out of 6 cases. Supernumerary marker chromosomes identified as i(9p), i(12p), and der(18) were all associated with an abnormal phenotype. Two of the derivatives of chromosome 20 analyzed were correlated with a normal phenotype, while the carrier of the third one showed physical anomalies and motor retardation. Of 2 patients with an extra der(X), 1 was normal and 1 showed an abnormal phenotype.
Assuntos
Aberrações Cromossômicas/genética , Marcadores Genéticos , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos Cromossômicos , Mapeamento Cromossômico , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 20 , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 22 , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Masculino , Metáfase , Fenótipo , Reação em Cadeia da PolimeraseRESUMO
The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.
