OBJECTIVES To quantify the overall contribution of mutations in the currently known amyotrophic lateral sclerosis (ALS) genes in a large cohort of sporadic patients and to make genotype-phenotype correlations. METHODS Screening for SOD1, TARDBP, FUS, ANG, ATXN2, OPTN, and C9ORF72 was carried out in 480 consecutive patients with sporadic ALS (SALS) and in 48 familial ALS (FALS) index patients ...

Alterations in the epidermal growth factor receptor were confirmed to take a significant role targeted therapy for patients with lung cancer. Studied 299 non-small cell cancer determine distribution of EGFR mutation and its relationship clinicopathological characteristics patients. mutations analysed by allele-specific PCR on Cobas z480 system, association between patient was Pearson Chi-square...

Skin squamous cell carcinoma (SCC) is the second most common skin cancer and mainly caused by cumulative UV exposure. However, SCC also arises independently of exposure, on sites sustained damage like chronic ulcers, scars, inflammatory diseases Hidradenitis suppurativa. Here we aimed to decipher genomic abnormalities, non-UV cutaneous SCC. We collected FFPE samples from a cohort 31 SCCs patien...

In 2011, the International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society (IASLC/ATS/ERS) classification added micropapillary predominant adenocarcinoma of the lung as a new histologic subtype and reclassified the former mucinous bronchioloalveolar carcino-ma (BAC) as a variant of invasive mucinous adenocarcinoma. 1 Recent studies regarding epide...

Somatic MET exon 14 skipping mutations (MET ex14) are targetable driver for non-small cell lung cancer (NSCLC), responsive to inhibitors. Objective: This study seeks further characterize the clinicopathologic features and mutational profile of ex14 variant NSCLC. Design: Retrospective review all tested Testing selected BRAF, EGFR, HER2, KRAS, was performed using a clinically validated NGS assay...

INTRODUCTION Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS We descri...

BACKGROUND In the spectrum of molecular alterations found in hepatocellular carcinoma (HCC), somatic mutations in the WNT/β-catenin pathway and the p53/cell cycle control pathway are among the most frequent ones. It has been suggested that both mutations occur in a mutually exclusive manner and they are used as molecular classifiers in HCC classification proposals. CASE PRESENTATION Here, we ...