Surgical management of breast cancer in BRCA mutation carriers: A single centre experience

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Unexpected frequency of genomic alterations in histologically normal colonic tissue from colon cancer patients

As shown by genomic studies, colorectal cancer (CRC) is a highly heterogeneous disease, where copy number alterations (CNAs) may greatly vary among different patients. To explore whether CNAs may be present also in histologically normal tissues from patients affected by CRC, we performed CGH + SNP Microarray on 15 paired tumoral and normal samples. Here, we report for the first time the occurrence of CNAs as a common feature of the histologically normal tissue from CRC patients, particularly CNAs affecting different oncogenes and tumor-suppressor genes, including some not previously reported in CRC and others known as being involved in tumor progression. Moreover, from the comparison of normal vs paired tumoral tissue, we were able to identify three groups: samples with an increased number of CNAs in tumoral vs normal tissue, samples with a similar number of CNAs in both tissues, and samples with a decrease of CNAs in tumoral vs normal tissue, which may be likely due to a selection of the cell population within the tumor. In conclusion, our approach allowed us to uncover for the first time an unexpected frequency of genetic alteration in normal tissue, suggesting that tumorigenic genetic lesions are already present in histologically normal colonic tissue and that the use in array comparative genomic hybridization (CGH) studies of normal samples as reference for the paired tumors can lead to misrepresented genomic data, which may be incomplete or limited, especially if used for the research of target molecules for personalized therapy and for the possible correlation with clinical outcome

P0428 Cardiac Sympathetic and Parasympathetic Balance Before and After Gluten Free Diet in Children With Celiac Disease

Celiac disease (CD) is often associated with other autoimmune disorders such as IDDM, autoimmune thyroiditis, rheumatoid arthritis, idiopathic dilated cardiomyopathy. Recently, an increased prevalence of antibodies versus neurons of central and enteric autonomic nervous system has been reported in celiac patients affected by various neurological disorders with improvement of neurological sign in a high percentage of patients after gluten free diet (GFD). We wished to evaluate the cardiac sympathetic and parasympathetic balance (detected with time and frequency analysis of Heart Rate Variability [HRV]) in untreated CD children. Data were compared with healthy subjects and the same patients after GFD. Methods: 10 children with CD (mean age 8.4±3.9 years) were studied at diagnosis and after six months of GFD. The control group consisted of 10 healthy age, sex and weight matched children. Standard 12-lead electrocardiograms (ECG) and ECG monitoring in two leads for HRV evaluation were performed in all patients at diagnosis and after six months of GFD, under standardized experimental conditions. The analysis of the normal beat to beat series (612 interval) and the analysis of variability of R-R interval were performed in time and in frequency domain with a commercially available software (Norav System). All recordings were also visually examined and manually revised to verify beat classification. The following indexes were calculated in time domain: R-R mean length SDNN (standard deviation of all normal RR intervals), rMSSD (square root of the mean of the sum of the squares of differences between adjacent intervals), triangular Index. The following indexes were calculated for spectral analysis: low frequency (LF) power (0.04 to 0.15 Hz) in ms2, high frequency (HF) and LF/HF ratio. Ultra low frequency (ULF) and very low frequency (VLF) were not calculated because they reflect circadian and other long-term variations in heart rhythm. Statistics results were analysed by the Student's t Test

68GA-DOTA-NOC PET for the evaluation of pulmonary neuroendocrine tumors: preliminary experience

Objective: 18F-FDG PET is of limited value for the assessment of lung neuroendocrine tumours (NET). Sixty-eight Ga-DOTA-NOC, has been reported to be useful for the assessment of gastro-entero-pancreatic NET expressing somatostatin receptors (SSR). To our knowledge, 68Ga-DOTA-NOC has never been studied in patients with lung NET. Aim of the study was to evaluate the role of 68Ga-DOTA-NOC PET for the evaluation of lung NET. Methods: Eleven patients (mean age: 62 years [44\u201380], M:F=6:5) with pathology proven lung NET were scheduled for 68Ga-DOTA-NOC PET. Indications to perform PET included staging (2), evaluation of equivocal conventional imaging findings (2) and follow-up after surgical excision of the primary tumour (7). PET results were compared with CT and with follow-up data. Results: PET showed at least one positive lesion in 7/11 cases and was negative in 4. Considering all lesions, the mean SUV max was 29.1 [range: 4.4\u201360.5]. 68Ga-DOTA-NOC PET was concordant with CT in 3/11. Of the remaining eight cases, PET identified a higher number of pathologic areas in 3/8 and excluded the malignant nature of suspicious CT findings in 4/11. In one case a suspicious liver lesion documented by CT and undetected on the PET scan was subsequently excised and immunohistochemistry showed the lack of SSR on tumour cells. Overall, PET provided additional information in 8/11 cases, changing the clinical management in 4/8 and contributing to better evaluate the extent of the disease in 4. Conclusions: Preliminary data show that 68Ga-DOTA-NOC is useful for evaluation of lung NET contributing to more accurate evaluation of disease

Infliximab induces healing of inflammatory lesions of the gut and restores growth in childrenwith severe refractory Crohn’s disease.

In: Dig Liver Disease 2003, 35 (10) p S3, Abs 7, AMSTERDAM: Elsevier doi: 10.1016/S1590-8658(03)00464-

Celiac disease and insulin dependent diabetes mellitus: may and early gluten-free diet protect from onset of diabetes?

GU