Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene. Molecular defects are reported according to HGVS recommendation. The clinical description module is provided with an advanced search tool together with a CSV (comm. separated values) data format download option. This compilation of COL7A1 data and nomenclature is aimed at assisting molecular and clinical geneticists to enhance the collaboration between researchers worldwide.

Introduction Testing for the epidermal growth factor receptor (EGFR) gene mutations requires considerable multidisciplinary experience of clinicians (for appropriate patient selection), pathologists (for selection of appropriate cytological or histological material) and geneticists (for performing and reporting reliable molecular tests). We present our experience on the efficacy of routine EGFR testing in various types of tumor samples and the frequency of EGFR mutations in a large series of Polish non-small cell lung cancer (NSCLC) patients. MethodsDeletions in exon 19 and substitution L858R in exon 21 of EGFR gene were assessed using real-time PCR techniques in 1,138 small biopsies or cytological specimens and in 1,312 surgical samples. ResultsOut of 2,450 diagnostic samples (containing >10 % of tumor cells), the occurrence of EGFR gene mutations was 9 %; more frequently in women (13.9 %) and adenocarcinoma patients (10 %), particularly with accompanying expression of TTF1 (13.0 %). The frequency of EGFR gene mutations was similar in cytological and histological specimens, and in primary and metastatic lesions, and did not depend on the percentage of tumor cells and quality of isolated DNA. Cytological or small biopsy, compared to surgical specimens showed lower percentage of tumor cells, with no impact on the quality of real-time PCR assay.ConclusionCytological and small biopsy samples with low (10–20 %) content of tumor cells and specimens from metastatic lesions are a sufficient source for EGFR mutation testing in NSCLC patients. The incidence of EGFR gene mutations in examined population was similar to those reported in other Caucasian populations.

Abstract. Targeted therapy of non-small cell lung cancer (NSCLC) patients with mutations in the epidermal growth factor receptor (EGFR) gene has been associated with improved prognosis. However, there is a shortage on data from real-world clinical practice in management of EGFR-positive NSCLC patients in Poland. The present study retrospectively analyzed data from the INSIGHT study to evaluate the incidence and clinical management of EGFR-positive NSCLC in Poland. The authors additionally aimed to identify predictors of the EGFR mutation and factors associated with clinical stage of the tumor at diagnosis. Incidence of EGFR mutations was 11.8% and the most common mutations were a deletion on exon 19 and an L858R substitution on exon 21. Mutations were strongly associated with female gender [male vs. female odds ratio (OR): 0.51; P=0.004] and never having smoked (current/past smoker vs. never smoked OR: 0.16; P<0.001), and advanced clinical stage (stage IV vs. stage I/II OR: 2.89; P=0.029). Patients with EGFR mutation were also observed to have a greater propensity to develop bone metastasis (OR: 11.62; P=0.008). Multivariate regression analysis demonstrated that patients with past or current smoking history or a poor performance on the Eastern Cooperative Oncology Group (ECOG) scale were less likely to have the EGFR mutation. Furthermore, EGFR-positive patients with greater ECOG scores and a tumor other than adenocarcinoma or squamous cell carcinoma were more likely to present advanced tumors. Early screening for EGFR mutation and the use of EGFR-targeting therapies as first-line agents may lead to better prognosis and successful clinical management of EGFR-positive NSCLC patients.

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According to current Polish and international recommendations, detection of EGFR gene somatic mutations is the essential part of routine diagnostic algorithm in advanced NSCLC patients considered for tyrosine kinase inhibitor therapy. Molecular heterogeneity of tumor tissue and cytology materials used for molecular diagnostics is challenging for classic methods of genetic analysis, such as Sanger sequencing, driving the development and implementation of specialized, highly sensitive techniques for mutations detection. Constant, dynamic progress in molecular biology techniques, particularly development of next-generation sequencing, should enable clinical implementation of simultaneous multiple therapeutic biomarkers analysis as well as non-invasive EGFR mutations diagnostic based on free-circulating DNA isolated from blood of non-small cell lung cancer patients.

Introduction The metabolism of the body is a complicated process. The most important organ of the organism that affects the intensity of changes is the liver. An effective treatment method of primary and metastatic tumours is a partial resection of the organ. The analysis of changes in the body composition of patients undergoing this type of treatment allows identification of problems coexisting with the underlying disease. Aim To evaluate changes in the parameters of body composition and the amount of resting metabolism. Material and methods The study group consisted of 87 patients who underwent resection of changes in the liver or thermoablation of focal lesions during hospitalisation. Results Analysis of the data showed that the surgical intervention contributes to a statistically significant ( p < 0.05) decrease in the value of the phase angle. A significant increase was noted within the extra cellular water content. The amount of resting metabolism in the postoperative period did not differ significantly; however, there was an upward trend in women and a downward trend in men. Conclusions Surgical resection of lesions aimed at extending the survival of patients are performed more and more often, while the consequences of these operations are not sufficiently known. The adverse effect of resection treatments on body composition parameters, mainly imaged by decreasing the phase angle value, should be minimised. Effects on metabolism remain ambiguous because no significant changes have been demonstrated in the postoperative period.

Introduction: Resection is an optimal way of treatment of hepatic tumors and metastasis from another organ. The operational injury may influence on patients body composition examined by bioelectrical impedance (BIA). Analysis of parameters may be helpful in identifying early changes indicating of deterioration in nutritional status. The aim of the study: was to assess changes in body composition of patients before and after resection of liver tumors and potential radiofrequency ablation of lesions. Material and methods: The study included a group of 50 patients of the Department of General, Gastroenterological and Oncological Surgery, Medical University of Warsaw, who were qualified for radical surgical treatment of tumors within the liver. Data on water content, fat, muscle and cell mass were analyzed. Results: Comparing data obtained from patients before and after intervention in the liver, statistically significant (p <0.05) loss of intracellular water, muscle mass, cell mass, as well as adipose tissue, was demonstrated. The phase angle value in these patients also significantly changed, decreasing by an average of 0.61°. On the other hand, the increase in content was noted in the case of extracellular water. Conclusions: Surgical intervention within the liver causes noticeable, unfavorable changes in the body composition, as evidenced by the reduction in the value of muscle mass, as well as cellular mass, resulting in a decrease in the phase angle. Bioelectric impedance is a suitable method for assessing changes in body composition of patients undergoing liver resection and is useful in clinical practice. It is advisable to conduct further research in the group of patients undergoing invasive treatment of the liver due to: an increasing number of such operations and centers where this type of surgical intervention is performed.