Lung cancer epidemiology in North Sardinia, Italy

Background The aim of this study was to analyze and describe the epidemiological characteristics and trends of lung cancer in North Sardinia, Italy, in the period 1992–2010. Methods Data were obtained from the tumor registry of Sassari province which is a part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. Results The overall number of lung cancer cases registered was 4,325. The male-to-female ratio was 4.6:1 and the mean age 68.1 years for males and 67 years for females. The standardized incidence rates were 73.1/100,000 and 13.5/100,000 and the standardized mortality rates 55.7/100,000 and 9.9/100,000 for males and females, respectively. An increasing trend in incidence of lung cancer in women was evidenced. Conversely, incidence was found to decrease in males. Relative survival at 5 years from diagnosis was low (8.8% for males and 14.9% for females). Furthermore, an increase in mortality rates was observed in both sexes in the period under investigation. Conclusions Our data show an increasing trend of lung cancer incidence in women in North Sardinia in the last decades. Conversely, a reduction of incidence rates was observed in males. Furthermore, a slightly increasing trend in mortality rates was observed in both sexes, suggesting the need to enhance smoking control strategies, consider adoption of effective surveillance policies, and improve diagnosis and treatment methods

Zinc transporter 8 and MAP3865c homologous epitopes are recognized at T1D onset in Sardinian children

Our group has recently demonstrated that Mycobacterium avium subspecies paratuberculosis (MAP) infection significantly associates with T1D in Sardinian adult patients. Due to the potential role played by MAP in T1D pathogenesis, it is relevant to better characterize the prevalence of anti-MAP antibodies (Abs) in the Sardinian population, studying newly diagnosed T1D children. Therefore, we investigated the seroreactivity against epitopes derived from the ZnT8 autoantigen involved in children at T1D onset and their homologous sequences of the MAP3865c protein. Moreover, sera from all individuals were tested for the presence of Abs against: the corresponding ZnT8 C-terminal region, the MAP specific protein MptD, the T1D autoantigen GAD65 and the T1D unrelated Acetylcholine Receptor. The novel MAP3865c281–287 epitope emerges here as the major C-terminal epitope recognized. Intriguingly ZnT8186–194 immunodominant peptide was cross-reactive with the homologous sequences MAP3865c133–141, strengthening the hypothesis that MAP could be an environmental trigger of T1D through a molecular mimicry mechanism. All eight epitopes were recognized by circulating Abs in T1D children in comparison to healthy controls, suggesting that these Abs could be biomarkers of T1D. It would be relevant to investigate larger cohorts of children, followed over time, to elucidate whether Ab titers against these MAP/Znt8 epitopes wane after diagnosis

Molecular analysis of appendiceal mucinous cystadenoma and rectal adenocarcinoma in a patient with urothelial carcinoma: a case report

Introduction: In this report, we present the case of a patient affected by appendiceal cystadenoma, a colorectal adenocarcinoma, and a concomitant bladder carcinoma, as well as the results of the molecular study of the most relevant mutational pathways involved in these tumors. Case presentation: A 68-year-old Italian man was admitted to our unit complaining of macrohematuria, rectorrhagia, and rectal tenesmus for about 2 months. A colonoscopy showed the presence of a rectal lesion at 11cm from the anal margin; multiple biopsies were performed and a diagnosis of moderately differentiated adenocarcinoma was made. Abdominal ultrasonography and total body computed tomography performed subsequently to stage the rectal cancer showed the presence of two round nodules, interpreted as swollen lymph nodes of neoplastic origin, at the anterior aspect of the iliopsoas muscle and a budding lesion affecting the bladder. The patient underwent transurethral biopsy of the lesion in the right retrotrigonal region; the diagnosis was grade II urothelial carcinoma. The patient underwent an open anterior rectal resection with loco-regional lymphadenectomy. An enlarged appendix and a voluminous whitish soft-tissue lesion requiring an appendicectomy were detected perioperatively. Transurethral resection of the bladder lesion was also performed. The histological examination revealed that the nodular lesions in the appendix were due to a cystadenoma. For mutation analysis, genomic deoxyribonucleic acid was isolated from tumor tissue samples; for PIK3CA mutations, screening revealed that all three samples analyzed carried mutations in exon 9. Conclusions: Appendiceal mucoceles are rare but require adequate surgical treatment, given their malignant potential and the possibility of causing peritoneal pseudomyxoma. It is essential to make a correct preoperative evaluation based on a colonoscopy rather than ultrasound and computed tomography to exclude synchronous neoplasias often associated with mucoceles and to plan the optimum surgical strategy. The association between appendiceal mucoceles and other neoplasias is relatively frequent, especially with colorectal cancer. Oncogenic activation in the PIK3CA-depending pathway may contribute substantially to the pathogenesis of the different solid tumors in the same patient

Recognition of zinc transporter 8 and MAP3865c homologous epitopes by Hashimoto's Thyroiditis subjects from Sardinia: a common target with type 1 diabetes?

Mycobacterium avium subspecies paratuberculosis (MAP) asymptomatic infection has been previously linked to Type 1 diabetes (T1D) and Multiple Sclerosis. An association between MAP infection and Hashimoto's thyroiditis (HT) was also proposed only in a case report. This study aimed to investigate the robustness of the latter association, testing a large cohort of HT and healthy control (HCs) subjects, all from Sardinia. Prevalence of anti-MAP3865c Abs was assessed by indirect enzyme-linked immunosorbent assay (ELISA). Moreover, given that human ZnT8 is specifically expressed in the pancreatic β-cells, in the follicle epithelial cells and in the parafollicular cells of the thyroid gland, we also tested ZnT8 epitopes homologues to the MAP3865c immunodominant peptides previously identified. Indeed, Abs targeting MAP3865c and ZnT8 homologous regions display similar frequencies in patients and controls, thus suggesting that Abs recognizing these epitopes could be cross-reactive. A statistically significant difference was found between HT patients and HCs when analyzing the humoral response mounted against MAP3865c/ZnT8 homologues epitopes. To our knowledge, this is the first report, which provides statistically significant evidence sustaining the existence of an association between MAP sero-reactivity and HT. Further studies are required to investigate the relevance of MAP to HT, aimed at deciphering if this pathogen can be at play in triggering this autoimmune disease. Likewise, genetic polymorphism of the host, and other environmental factors need to be investigated

Breast cancer incidence and mortality in North Sardinia in the period 1992–2010

The aim of this study was to analyze and describe the epidemiological characteristics and trends of breast cancer in Sassari province (Sardinia, Italy) in the period 1992 2010. Data were obtained from the local tumor registry which makes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. The overall number of breast cancer cases registered was 5,483 (46 males and 5,437 females). The mean age was 64.8 years for males and 60.4 years for females. The standardized incidence rates were 1/100,000 and 106.2/100,000 and the standardized mortality rates 0.3/100,000 and 23.2/100,000 for males and females respectively. An increasing trend in incidence and mortality rates of breast cancer in Sassari province was evidenced in the years under investigation. Relative survival at 5 years from diagnosis was 78.2% (73.1% for males and 78.3% for females

Origin and distribution of the BRCA2-8765delAG mutation in breast cancer

Background: The BRCA2-8765delAG mutation was firstly described in breast cancer families from French-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in Sardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia and the putative existence of a common ancestral origin through a haplotype analysis of breast cancer family members carrying such a mutation. Methods: Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, telomeric) spanning the BRCA2 gene locus were used for the haplotype analysis. Screening for the 8765delAG mutation was performed by PCR-based amplification of BRCA2-exon 20, followed by automated sequencing. Results: Among families with high recurrence of breast cancer (≥ 3 cases in first-degree relatives), those from North Sardinia shared the same haplotype whereas the families from French Canadian and Jewish-Yemenite populations presented distinct genetic assets at the BRCA2 locus. Screening for the BRCA2-8765delAG variant among unselected and consecutively-collected breast cancer patients originating from the entire Sardinia revealed that such a mutation is present in the northern part of the island only [9/648 (1.4%) among cases from North Sardinia versus 0/493 among cases from South Sardinia]. Conclusion: The BRCA2-8765delAG has an independent origin in geographically and ethnically distinct populations, acting as a founder mutation in North but not in South Sardinia. Since BRCA2- 8765delAG occurs within a triplet repeat sequence of AGAGAG, our study further confirmed the existence of a mutational hot-spot at this genomic position (additional genetic factors within each single population might be involved in generating such a mutation)

Marine benthic forms of the Marine Protected Area Capo Caccia-Isola Piana (Sardinia, Italy)

The great ecological and economic value of the biocenoses of Marine Protected Area 'Capo Caccia-Isola Piana' (MPA) requires a constant monitoring. For this reason, a continuous study of the area producing overlapping maps useful to control in real time the evolution of the biocenoses is necessary. The integrated use of several methodologies, such as Side Scan Sonar, Remote Operating Vehicle and Drone, has allowed us to realize a very detailed map. This paper presents the marine benthic map of the MPA and compares the present situation with that recorded in 2008