Asunto(s)
Cesárea/métodos , Metilprednisolona/administración & dosificación , Penfigoide Gestacional , Complicaciones del Embarazo , Adulto , Femenino , Rotura Prematura de Membranas Fetales/cirugía , Glucocorticoides/administración & dosificación , Humanos , Recién Nacido de Bajo Peso , Penfigoide Gestacional/diagnóstico , Penfigoide Gestacional/tratamiento farmacológico , Penfigoide Gestacional/fisiopatología , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/tratamiento farmacológico , Complicaciones del Embarazo/fisiopatología , Resultado del Embarazo , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
The gene expression profile of breast cancer has been described as a great breakthrough on the way to comprehend differences in cancer origin, behavior and therapy. However, gene expression profile in histologically normal epithelium (HNEpi) which could harbor genetic abnormalities predisposing breast tissue to develop malignancy was minor scope for scientists in the past. Thus, we aimed to analyze gene expressions in HNEpi and breast cancer tissue (BCTis) in order to establish its value as potential diagnostic marker for cancer development. We evaluated a panel of disease-specific genes in luminal type (A/B) of breast cancer and tumor surrounding HNEpi by qRT-PCR Array in 32 microdissected samples. There was 20.2 and 2.4% deregulation rate in genes with at least 2-fold or 5-fold over-expression between luminal (A/B) type breast carcinomas and tumor surrounding HNEpi, respectively. The high-grade luminal carcinomas showed higher number of deregulated genes compared to low-grade cases (50.6 vs. 23.8% with at least 2-fold deregulation rate). The main overexpressed genes in HNEpi were KLK5, SCGB1D2, GSN, EGFR and NGFR. The significant differences in gene expression between BCTis and HNEpi samples were revealed for BAG1, C3, CCNA2, CD44, FGF1, FOSL1, ID2, IL6R, NGFB, NGFR, PAPPA, PLAU, SERPINB5, THBS1 and TP53 gene (p < 0.05) and BCL2L2, CTSB, ITGB4, JUN, KIT, KLF5, SCGB1D2, SCGB2A1, SERPINE1 (p < 0.01), and EGFR, GABRP, GSN, MAP2K7 and THBS2 (p < 0.001), and GSN, KLK5 (p < 0.0001). The ontological gene analyses revealed high deregulations in gene group directly associated with breast cancer prognosis and origin.
Asunto(s)
Neoplasias de la Mama/genética , Mama/metabolismo , Genes Relacionados con las Neoplasias , Transcriptoma , Biomarcadores de Tumor , Mama/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Epitelio/metabolismo , Epitelio/patología , Receptores ErbB/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Calicreínas/genética , Proteínas del Tejido Nervioso/genética , Pronóstico , Receptores de Factor de Crecimiento Nervioso/genética , Secretoglobinas/genéticaRESUMEN
Gene expression profilebased taxonomy of breast cancer (BC) has been described as a significant breakthrough in comprehending the differences in the origin and behavior of cancer to allow individually tailored therapeutic approaches. In line with this, we hypothesized that the gene expression profile of histologically normal epithelium (HNEpi) could harbor certain genetic abnormalities predisposing breast tissue cells to develop human epidermal growth factor receptor 2 (HER2)positive BC. Thus, the aim of the present study was to assess gene expression in normal and BC tissue (BCTis) from patients with BC in order to establish its value as a potential diagnostic marker for cancer development. An array study evaluating a panel of 84 pathway and diseasespecific genes in HER2positive BC and tumoradjacent HNEpi was performed using quantitative polymerase chain reaction in 12 patients using microdissected samples from frozen tissue. Common prognostic and predictive parameters of BC were assessed by immunohistochemistry and in situ hybridization. In the BCTis and HNEpi samples of 12 HER2positive subjects with BC, the expression of 2,016 genes was assessed. A total of 39.3% of genes were deregulated at a minimal twofold deregulation rate and 10.7% at a fivefold deregulation rate in samples of HNEpi or BCTis. Significant differences in gene expression between BCTis and HNEpi samples were revealed for BCL2L2, CD44, CTSD, EGFR, ERBB2, ITGA6, NGFB, RPL27, SCBG2A1 and SCGB1D2 genes (P<0.05), as well as GSN, KIT, KLK5, SERPINB5 and STC2 genes (P<0.01). Insignificant differences (P<0.07) were observed for CCNA1, CLU, DLC1, GABRP and IL6 genes. The ontological gene analyses revealed that the majority of the deregulated genes in the HNEpi samples were part of the functional gene group directly associated with BC origin and prognosis. Functional analysis showed that the most frequent gene deregulations occurred in genes associated with apoptosis and cell cycle regulation in BCTis samples, and with angiogenesis, regulation of the cell cycle and transcriptional activity in HNEpi samples. The molecular profiling of HNEpi breast tissue revealed gene expression abnormalities that may represent potential markers of increased risk for HER2positive malignant transformation of breast tissue, and may be able to be employed as predictors of prognosis.
Asunto(s)
Neoplasias de la Mama/patología , Mama/metabolismo , Perfilación de la Expresión Génica , Receptor ErbB-2/metabolismo , Biomarcadores de Tumor/metabolismo , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Femenino , Humanos , Inmunohistoquímica , Hibridación in Situ , Estadificación de Neoplasias , Análisis de Secuencia por Matrices de Oligonucleótidos , TranscriptomaRESUMEN
The authors present a case of 38-year-old laboring woman with four-time repetitive breech presentation of the fetus at term. This rare condition affects the mode of delivery and represents serious obstetrical problem as it is associated with increased perinatal morbidity or mortality. The authors give details on risk factors for breech presentation, its diagnosis, and the discussion points on possible causes leading to repetitive breeches in laboring women.