Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.

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INTRODUCTION:Urothelial Bladder Cancer (UBC) is the ninth worldwide most common cancer. In Italy the prevalence of the disease is about 10 percent, representing the third most prevalent cancer with 180,775 cases in men and 42,757 cases in women. The increase in the incidence requires continuous surveillance and care, resulting in a significant burden on Italian Healthcare System, making any improvement to the strategy for diagnosing and treating this disease important to the medical and scientific community. The aim of this study was to evaluate the burden of UBC in the Italian context, collecting and measuring the total costs of the disease.METHODS:An economic analysis in the National Health Service perspective was carried out, evaluating in six centers direct costs in terms of outpatient, inpatient and emergency care, pharmaceuticals and follow up procedures and indirect costs in terms of productivity losses. Data were collected through aggregated form reports, focusing on patients with an existing diagnosis of UBC who were taken in charge in the last year. Statistical analysis was conducted in order to explore variations between centers.RESULTS:Mean total annual cost per patients was EUR11,310, increasing for disease severity from EUR6,954 for superficial disease to EUR24,896 for metastatic stage. The analysis confirmed a proportional relation between disease severity and disability grade. The total burden of the disease considering all patients, including prevalence and incidence data coming from AIOM guidelines 2015, was EUR2,833,655,822, of which 15 percent is represented by estimated productivity losses.CONCLUSIONS:Our analysis represents the first economic burden study of UBC in the Italian context as well as the first real life evidence of the current therapeutic algorithm. This study opens the possibility for further analysis on the indirect costs components that represent a great burden for the society, especially for the stages of the disease with high disability grade.

Background: Lung cancer in the female population is a growing sanitary problem. Gender-related differences in susceptibility, pathogenesis and possible cure for this disease are interesting fields of basic and clinical investigation. Female sex, adenocarcinoma histology, non smoking history represent clinical features correlated with response to EGFR-TKIs. The use of these molecules in patients selected on a "clinical enrichment" basis are warranted. Patients and Methods: The mutational status of EGFR (exons from 18 to 21) and K-ras (exon 1) is routinely evaluated in patients with adenocarcinoma of the lung referred to our Institution. From January 2006 30 women with advanced NSCLC were observed: median age 60 yrs (37-80); smokers=12 pts (40%); non smokers=18 (60%). Adenocar-cinoma= 22 pts (73.3%); BAC =6 (20%); adenocarcinoma with BAC features= 2 (6.7%). Fifteen pts (50%) had stage IV disease at diagnosis and 5 of them (33.3%) showed brain metastases. Results: 9/30 (30%) EGFR mutations were detected: 5 in exon 19; 2 in exon 21; 2 in exon 20. 3/30 (10%) K-ras mutations were noted. 11 patients received TKIs (Gefitinib 250 mg/die or Erlotinib 150 mg/die orally) as second-line therapy for at least 2 months and were evaluable for activity: 5 PR (45%) and 6 PD (55%) were observed. All responding patients were non smokers; 3 had mutation in exon 19, 1 in exon 21 and 1 had Wild Type EGFR. All were WT K-ras. Among patients with PD: 1 had tumor with mutation in exon 21, 2 had tumors with K-ras mutation and 3 WT EGFR. Median progression-free survival was 5 months (range 2-14+ months); median overall survival was 27 months (range 8-108 months). Conclusions: In our "clinically enriched" population (women with adenocarcinoma) we can observed that: 1) 60% of patients were non smokers; 2) 17% had brain metastases at diagnosis; 3) the frequence of EGFR mutations is 30% (higher than that reported in caucasian non selected series); 4) the most frequent EGFR mutation was in exon 19. In patients receiving second-line TKIs response rate was 45%; all responding patients were non smokers and 4/5 (80%) had tumors with EGFR mutations. The study is ongoing. Updated results will be presented at the meeting.