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1.
Biomed Res Int ; 2015: 760698, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26366419

RESUMO

It has been well documented that aberrant expression of selected microRNAs (miRNAs) might contribute to the pathogenesis of disease. The aim of the present study is to compare miRNA expression by the most comprehensive locked-nucleic acid (LNA) miRNA microarray in eutopic endometrium of patients with endometriosis and control. In the study we recruited 21 patients with endometriosis and 25 were disease-free women. The miRNA expression profiles were determined using the LNA miRNA microarray and validated for selected molecules by real-time PCR. We identified 1198 human miRNAs significantly differentially altered in endometriosis versus control samples using false discovery rate of <5%. However only 136 miRNAs showed differential regulation by fold change of at least 1.3. By the use of selected statistical analysis we obtained 45 potential pathways that might play a role in the pathogenesis of endometriosis. We also found that natural killer cell mediated cytotoxicity pathway was found to be inhibited which is consistent with previous studies. There are several pathways that may be potentially dysregulated, due to abnormal miRNA expression, in eutopic endometrium of patients with endometriosis and in this way contribute to its pathogenesis.


Assuntos
Proliferação de Células/genética , Endometriose/genética , Endometriose/patologia , Endométrio/patologia , MicroRNAs/genética , Ovário/patologia , Adulto , Estudos de Casos e Controles , Feminino , Perfilação da Expressão Gênica/métodos , Humanos
2.
Adv Med Sci ; 58(1): 83-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23729630

RESUMO

PURPOSE: In a retrospective analysis of the prevalence of KRAS mutations in patients with advanced non-small cell lung cancer (NSCLC), we detected a unique and not earlier described case of a double combination of mutations at codons 12 and 13 of the KRAS gene in a patient with lung adenocarcinoma. MATERIAL/METHODS: To determine the molecular characteristics of the infrequent mutation and the mutational status of the KRAS gene in metastatic brain tumors in the same patient, we performed morphological and molecular tests. RESULTS: Molecular analysis of the nature of the double mutation showed that the unique combination of variants is a monoallelic mutation. This type of changes has not yet been registered in the Catalogue of Somatic Mutations in Cancer database. Molecular assessment of the KRAS mutation status in the brain metastatic site in the same patient, showed no mutations in codons 12 and 13. Moreover, we did not find mutation at exon 19 and 21 of EGFR gene, both in primary tumor as well as in secondary metastatic foci in the brain. CONCLUSIONS: The presented case shows an example of KRAS gene molecular mosaicism and heterogeneity of lung adenocarcinoma primary and metastatic tumors. Molecular heterogeneity of lung adenocarcinoma tumors can significantly affect eligibility of patients for targeted therapies.


Assuntos
Adenocarcinoma/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Códon , Genes ras , Neoplasias Pulmonares/genética , Mutação , Alelos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/secundário , Receptores ErbB/genética , Éxons , Heterozigoto , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Tomografia Computadorizada por Raios X
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