The method presented here eliminates the need for DNA purification and allows for detection of EGFR mutations in samples containing as few as eight cancer cells.

The presence of somatic mutations of the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene in patients with advanced nonsmall cell lung cancer (NSCLC) correlates with a good response to tyrosine kinase inhibitors. The usefulness of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for the detection of EGFR mutations in cells recovered from malignant mediastinal nodes in patients with NSCLC was assessed.All patients with lung adenocarcinoma or unspecified NSCLC referred for staging with EBUS-TBNA were included. Nodes with a short-axis diameter of .5 mm were sampled, and genomic DNA from metastatic tumour cells was obtained for analysis of exons 19 and 21. The impact of sampling on management was assessed.EGFR gene analysis of the EBUS-TBNA sample was feasible in 26 (72.2%) out of the 36 patients with lymph node metastasis. Somatic mutations of the EGFR gene were detected in tissue obtained through EBUS-TBNA in two (10%) out of 20 patients with metastasic lung adenocarcinoma.Malignant tissue samples obtained by EBUS-TBNA from patients with nodal metastasis of NSCLC are suitable for the detection of EGFR mutations in most cases, and this technique demonstrates mutated neoplastic cells in a tenth of patients with adenocarcinoma.

Thyroid cancer is a heterogeneous disease with several subtypes characterized by cytological, histological and genetic alterations, but the involvement of epigenetics is not well understood. Here, we investigated the role of aberrant DNA methylation in the development of well-differentiated thyroid tumors. We performed genome-wide DNA methylation profiling in the largest well-differentiated thyroid tumor series reported to date, comprising 83 primary tumors as well as 8 samples of adjacent normal tissue. The epigenetic profiles were closely related to not only tumor histology but also the underlying driver mutation; we found that follicular tumors had higher levels of methylation, which seemed to accumulate in a progressive manner along the tumorigenic process from adenomas to carcinomas. Furthermore, tumors harboring a BRAF or RAS mutation had a larger number of hypo-or hypermethylation events, respectively. The aberrant methylation of several candidate genes potentially related to thyroid carcinogenesis was validated in an independent series of 52 samples. Furthermore, through the integration of methylation and transcriptional expression data, we identified genes whose expression is associated with the methylation

The liver has a unique dual blood supply, which makes helical computed tomography (CT) a highly suitable technique for hepatic imaging. Helical CT allows single breath-hold scanning without motion artifacts. Because of rapid image acquisition, two-phase (hepatic arterial phase and portal venous phase) evaluation of the hepatic parenchyma is possible, improving tumor detection and tumor characterization in a single CT study. The arterial and portal venous supplies to the liver are not independent systems. There are several communications between the vessels, including transsinusoidal, transvasal, and transplexal routes. When vascular compromise occurs, there are often changes in the volume of blood flow in individual vessels and even in the direction of blood flow. These perfusion disorders can be detected with helical CT and are generally seen as an area of high attenuation on hepatic arterial phase images that returns to normal on portal venous phase images; this finding reflects increased arterial blood flow and arterioportal shunting in most cases. Familiarity with the helical CT appearances of these perfusion disorders will result in more accurate diagnosis. By recognizing these perfusion disorders, false-positive diagnosis (hypervascular tumors) or overestimation of the size of liver tumors (eg, hepatocellular carcinoma) can be avoided.

The minimally invasive SNB was shown to be a practical alternative to ALND. We propose to use local as well as global sensitivity and associated 95% CI to test the validity of SNB in the clinical setting. Due to limitations of ALND as the golden standard, SNB can in fact be considered a more accurate method for nodal staging.