RESUMEN
Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In this study, a multi-target fluorescence in situ hybridization (FISH) assay was conducted to investigate the correlation between the alterations of chromosomes, including 5p15.2, 6p11.1-q11, 7p12, and 8q24.12-q24.13 (LaVysion Test), and clinicopathological variables, and to clarify the potential of the multi-target FISH assay in 37 NSCLC. The most notable finding was the higher frequency of a gain in chromosome 5p15.2 in early-stage (I+IIa) lung cancers. The frequency of the gain was 81.3% (16/22) in stage I tumors. The frequencies of gains in 6p11.1-q11 and 8q24.12-q24.13 were 61.5% (8/13) and 84.6% (11/13) in stage IIIa cancers, as compared with lower frequencies in stage I tumors at 25.0% and 31.3%, respectively. There was also a significant difference in the histological type. Our results suggest that a gain in 6p11.1-q11 and 8q24.12-q24.13 plays an important role in tumor progression and is associated with histological differentiation. On the other hand, gene amplification in the 5p region was one of the most consistent alterations in early-stage lung cancer, and thus a series of genes in the critical 5p15.2 region might potentially associated with the development of lung cancer.
Asunto(s)
Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Aberraciones Cromosómicas , Cromosomas Humanos Par 5/genética , Cromosomas Humanos Par 6/genética , Cromosomas Humanos Par 8/genética , Amplificación de Genes , Hibridación Fluorescente in Situ , Neoplasias Pulmonares/diagnóstico , Estadificación de Neoplasias , Biomarcadores de Tumor/genéticaRESUMEN
Genetic alterations have been recognized as an important event in the carcinogenesis of gastric cancer (GC). We conducted high resolution bacterial artificial chromosome array-comparative genomic hybridization, to elucidate in more detail the genomic alterations, and to establish a pattern of DNA copy number changes with distinct clinical variables in GC. Our results showed some correlations between novel amplified or deleted regions and clinical status. Copy-number gains were frequently detected at 1p, 5p, 7q, 8q, 11p, 16p, 20p and 20q, and losses at 1p, 2q, 4q, 5q, 7q, 9p, 14q, and 18q. Losses at 4q23, 9p23, 14q31.1, or 18q21.1 as well as a gain at 20q12 were correlated with tumor-node-metastasis tumor stage. Losses at 9p23 or 14q31.1 were associated with lymph node status. Metastasis was determined to be related to losses at 4q23 or 4q28.2, as well as losses at 4q15.2, 4q21.21, 4q 28.2, or 14q31.1, with differentiation. One of the notable aspects of this study was that the losses at 4q or 14q could be employed in the evaluation of the metastatic status of GC. Our results should provide a potential resource for the molecular cytogenetic events in GC, and should also provide clues in the hunt for genes associated with GC.
Asunto(s)
Persona de Mediana Edad , Masculino , Humanos , Femenino , Anciano de 80 o más Años , Anciano , Adulto , Neoplasias Gástricas/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Receptores de Tirotropina/genética , Hibridación de Ácido Nucleico/métodos , Estadificación de Neoplasias , Factor de Transcripción MafB/genética , Metástasis Linfática/genética , Genoma Humano/genética , Regulación Neoplásica de la Expresión Génica , Cromosomas Humanos Par 20/genética , Cromosomas Humanos Par 14/genética , Aberraciones CromosómicasRESUMEN
OBJECTIVE: Endometriosis is a very common gynecological condition in which tissue similar to endometrium proliferates at sites outside the uterine cavity. Although it generally remain a benign condition, malignant transformation has been documented, and it is commonly found in association with endometrioid subtype ovarian carcinoma. In order to identify the genomic change in those areas possibly involved in the pathogenesis of endometriosis, we performed LOH analysis. METHODS: Twenty seven cases of endometriosis were analyzed for the detection of LOH using 5 microsatellite markers. LOH analysis was performed by PCR, capillary electrophoresis and gene scan analysis using DNA from sections of tumor and normal tissue pairs. RESULTS: Twenty two of 27 (81.5%) cases demonstrated LOH at one or more loci. The frequency of LOH was 37.0% (D18S69), 25.9% (D22S274), 14.8% (D22S283), 7.4% (D6S286), 7.4% (D13S160). CONCLUSION: The frequencies of LOH was increased in higher stage of endometriosis. Most notable findings were found at chromosome 18 and 22 loci (D18S69, D22S274). These region might involve the some candidate genes closely related with the pathogenesis of endometriosis.