Objective: Classically, tumor immune-related microenvironment was synonym of inflammatory cell infiltrate. Recently, the detection of synthesis and secretion of immune mediators by tumor cells highlighted TNF-superfamily (TNFSF) members as key counterparts of cell fate-related signals. Here, we assayed the synthesis-expression-function of a subset of TNFSF ligands and receptors (BAFF, APRIL, BAFFR, BCMA, TACI) in normal epithelial tissues and tumors and resident adult mesenchymal stem cells. Method: Tissues (breast, CNS, kidney, skin, adipose tissue) have been assayed by means of immunohistochemistry and Real-Time PCR. Cell models were used for signaling, transcriptomics and functional assays. Results: All tumors expressed this TNF-SF subset. BAFFR is absent, while its specific ligand BAFF is ubiquitously expressed; contrairewise, APRIL, BCMA and TACI are expressed in tissue-specific manner. APRIL relays on tumor evolution/grade and is involved in tumor proliferation/differentiation/apoptosis signaling through NFκB-related, or a novel pathway, implicating JNK/FOXO3A/GADD45, triggering transcriptional events. Conclusion: Autocrine/paracrine effects of APRIL and its receptors BCMA and TACI in normal/tumoral parenchyme and the recruitment/attraction of immune-related cells could orchestrate tissue response, regulating cell fate, differentiation, inflammation, tissue remodeling and cancer, with potential tailored-therapy application. Objective: Mutation analysis of KIT and PDGFRA genes is currently used in gastrointestinal stromal tumors (GIST) as an important step in diagnostic protocol. Method: DNA samples obtained from parafin-embedded biopsy material of 278 GIST patients diagnosed in 2004-2011 were screened for mutations in exons 9, 11, 13 and 17 of KIT and 12, 14 and 18 of PDGFRA. Results were tested for associations with clinical parameters of the tumor. Results: Causal mutations (according to in silico analysis with PolyPhen-2 predictor) were identified in 83.8 % of patients, most frequently in KIT exon 11 (62.95 %). The KIT exon 9, PDGRFA exons 18 and 12, KIT exon 13, PDGFRA exon 14 and KIT exon 17 mutations appeared with frequencies 8.3 %, 7.6 %, 2.5 %, 1.4 %, 1.1 % and 0.0 % resp. Genotype-phenotype correlation analysis revealed statistically significant association between intestinal localization of tumors and presence of KIT exon 9 p.503-504_dup2 mutation and gastric localization of tumors and presence of PDGFRA exon 18 p. D842V mutation. Conclusion: Centralized and standardized GIST diagnosis offers clinically and prognostically relevant informations and is necessary for the indication of appropriate targeted therapy of GIST patients. Supported by projects CEPR II (IMTS 26220120036) and MBCC (IMTS 26220220113) at CU JFM co-financed by EU and by grant Novartis Slovakia. Objective: An association between cystic fibrosis transmembrane regulator (CFTR) gene mutations and infertility may occur. This study investigated the frequency of mutations in the CFTR gene, of a group of consecutive patients candidate for assisted reproductive techniques with the aim of identify subjects carriers of the most severe ones. Method: We screened 11208 healthy subjects (5943 females and 5265 males) for 56 CFTR gene mutations and IVS8-poliT polymorphism utilizing the CFTR INNO-LiPA Amplification kit including both general and Italian regional strips. Results: CFTR mutations were detected in 6.2 % of the patients, a percentage similar to that reported in the general population. The most common mutation was ΔF508/N observed in 0.9 % of patients. No difference in the gender distribution was evidenced. In the large group of patients analyzed 87.7 % were wt, 11.8 % carrier of one mutation, and interestingly 0.5 % compound heterozygous. Conclusion: Our data support the relevance of an accurate determination of mutations in the CFTR gene in order to inform the couple of their carrier risk and the possibility on having affected child. Moreover our findings highlight the potential of genetic screening as a tool to identify possible compound heterozygous subjects without CF-like symptoms. Objective: A patient's response to cancer treatment can depend on their biomarker status. Therefore it is important that laboratories perform their biomarker tests well. In 2009 an international external quality assessment scheme for KRAS mutation analysis on FFPE slides was set-up. Method: This scheme was run for 3 years by the coordination center, a medical and technical expert and scheme organizers under the umbrella of ESP. Participants received 10 samples. Genotype results were analyzed and labs with good performance were listed on the ESP website. Written reports of 2011 were evaluated in detail. Results: In 2011, 79 % of participants identified all samples correctly. Results seemed to improve over the years from 9.49/10 to 9.62/10. Genotype results from laboratories that participated for 3 years appeared to improve overtime, although this couldn't be statistically proven. In the reports some important elements weren't always present. For example, the patient's name was only present in 80 %, correct HGVS nomenclature in 90 % and interpretation of results in less than 40 %. Conclusion: KRAS-EQA probably facilitates improvement of laboratory testing. The quality of reports of KRAS tests needs to be improved. A guideline for reporting molecular pathological results would be a good instrument for both participants and assessors. Objective: Microsatellite instability (MSI) due to mismatch repair (MMR) deficiency is reported in a fraction of colorectal cancers (CRCs) (5-10 %) complicating IBDs (IBD-CRCs). Our recent findings argued for the existence of yet unknown mechanisms underlying MMR-deficiency in IBD-CRCs, different from those involved in sporadic and hereditary MSI CRCs. Here we hypothesized that over-expression of miR-155 and miR-21, two inflammation-related miRNAs that target core MMR proteins, could constitute a mechanism underlying MMR deficiency in IBD-CRCs. Method: We compared the expression of both miRs in IBD-CRCs and non-IBD hereditary or sporadic CRCs using nonneoplastic IBD and healthy mucosa samples as controls.