A Novel Oncogenic Driver in a Lung Adenocarcinoma Patient Harboring an -KDD and Response to Afatinib.

Oncogenic mutations in the epidermal growth factor receptor () occur frequently in patients with lung cancer. These mutations may serve as critical predictive biomarkers in patients with non-small cell lung cancer (NSCLC). Among them, exon 18-25 kinase domain duplication (-KDD) mutations have been identified as a novel gene subtype in NSCLC.

Integrated Genomic Analysis of Hürthle Cell Cancer Reveals Oncogenic Drivers, Recurrent Mitochondrial Mutations, and Unique Chromosomal Landscapes.

The molecular foundations of Hürthle cell carcinoma (HCC) are poorly understood. Here we describe a comprehensive genomic characterization of 56 primary HCC tumors that span the spectrum of tumor behavior. We elucidate the mutational profile and driver mutations and show that these tumors exhibit a wide range of recurrent mutations.

Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts.

To characterize patient-derived xenografts (PDXs) for functional studies, we made whole-genome comparisons with originating breast cancers representative of the major intrinsic subtypes. Structural and copy number aberrations were found to be retained with high fidelity. However, at the single-nucleotide level, variable numbers of PDX-specific somatic events were documented, although they were only rarely functionally significant.

[Establishment and application of median serum markers for second trimester screening in Qingdao region].

Objective: To establish the median of serum markers for second trimester screening in Qingdao region and to assess the influence of median correction on the performance of screening.

Methods: Maternal serum alpha-fetoproteins (AFP), human chorionic gonadotrophin, free beta subunit (β -HCG) and unconjugated oestriol (uE3) were assayed for prenatal screening of 18 188 singleton pregnancies at 15-20(+ 6) weeks gestation from January 2009 to July 2010. The median of serum markers was calculated based on above results and applied for risk estimation in screening for fetal aneuploidy from August 2010 to March 2011.

[The effect of AQP4 gene on the activation of retinal glial cells in chronic high intraocular pressure mice].

Objectives: To investigate whether aquaporin 4 (AQP4) gene can affect the activation of glial cells and cause the injury of retina of chronic high intraocular pressure mice models, and to discuss its possible mechanism.

Methods: Experimental study. The chronic high intraocular pressure models were established by burning the scleral venous of the right eye, which as the experiment group, and the left eye without any treatment as the control group.

[Evaluation of Down's syndrome screening methods using maternal serum biochemistry in the second trimester pregnancy].

Objective: To provide basis for selecting the suitable method of Down's syndrome biochemical screening in the second trimester pregnancy.

Methods: A total of 30 547 singleton pregnancies between 14 and 20(+ 6) weeks of pregnancy were collected and analyzed for maternal serum alpha-fetoproteins (AFP) and human chorionic gonadotrophin, free beta subunit (beta-HCG) with or without unconjugated estriol (uE3). The screening risks were calculated using the software Lifecycle.