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1. Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort

Author

Vanni, I., Pastorino, L., Andreotti, V., Comandini, D., Fornarini, G., Grassi, M., Puccini, A., Tanda, E. T., Pastorino, A., Martelli, V., Mastracci, L., Grillo, F., Cabiddu, F., Guadagno, A., Coco, S., Allavena, E., Barbero, F., Bruno, W., Dalmasso, B., Bellomo, S. E., Marchiò, C., Spagnolo, F., Sciallero, S., Berrino, E., and Ghiorzo, P.

Published
2024
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3. ItaLynch: an ongoing Italian study to evaluate the feasibility of mainstreaming the diagnosis of Lynch syndrome in colorectal cancer patients

Author

Puccini, A., primary, Grillo, F., additional, Fassan, M., additional, Lonardi, S., additional, Genuardi, M., additional, Cannizzaro, R., additional, Cavestro, G.M., additional, Marmorino, F., additional, Conca, V., additional, Salvatore, L., additional, Bergamo, F., additional, Tosi, F., additional, Morano, F., additional, Daprà, V., additional, Molica, C., additional, Barana, D., additional, Guglielmi, A., additional, Signorelli, C., additional, D’Amico, M., additional, Zoratto, F., additional, Iacono, D., additional, Morabito, A., additional, Martini, G., additional, Fabbroncini, A., additional, Duro, M., additional, Bruera, G., additional, Auriemma, A., additional, Bonanni, B., additional, Percesepe, A., additional, Dono, M., additional, Battistuzzi, L., additional, Labianca, R., additional, Boni, L., additional, and Sciallero, S., additional

Published
2024
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4. The observational clinical registry (cohort design) of the European Reference Network on Rare Adult Solid Cancers: The protocol for the rare head and neck cancers.

Author

Trama, A., Licitra, L., Cavalieri, S., Bonfarnuzzo, S., Baili, P., Ciarfella, A., Parente, P., Almadori, G., Ansarin, M., Bacigalupo, A., Baumeister, P., Baujat, B., Bossi, P., Cavalera, E., Cercato, M.C., Dieleman, F., Fakhry, N., Ferraresi, V., Gaino, F., Galizia, D., Halamkova, J., Halme, E., Hardillo, J., Hofauer, B., Kinloch, E., Livi, L., Locati, L.D., Mattheis, S., Mercante, G., Mirabile, A., Molteni, G., Orlandi, E., Persio, R., Sciallero, S., Smeele, L., Tagliabue, M., Valentini, V., Herpen, C.M.L. van, Westphalen, C.Benedikt, Botta, L., Trama, A., Licitra, L., Cavalieri, S., Bonfarnuzzo, S., Baili, P., Ciarfella, A., Parente, P., Almadori, G., Ansarin, M., Bacigalupo, A., Baumeister, P., Baujat, B., Bossi, P., Cavalera, E., Cercato, M.C., Dieleman, F., Fakhry, N., Ferraresi, V., Gaino, F., Galizia, D., Halamkova, J., Halme, E., Hardillo, J., Hofauer, B., Kinloch, E., Livi, L., Locati, L.D., Mattheis, S., Mercante, G., Mirabile, A., Molteni, G., Orlandi, E., Persio, R., Sciallero, S., Smeele, L., Tagliabue, M., Valentini, V., Herpen, C.M.L. van, Westphalen, C.Benedikt, and Botta, L.

Abstract

Item does not contain fulltext, INTRODUCTION: Care for head and neck cancers is complex in particular for the rare ones. Knowledge is limited and histological heterogeneity adds complexity to the rarity. There is a wide consensus that to support clinical research on rare cancer, clinical registries should be developed within networks specializing in rare cancers. In the EU, a unique opportunity is provided by the European Reference Networks (ERN). The ERN EURACAN is dedicated to rare adults solid cancers, here we present the protocol of the EURACAN registry on rare head and neck cancers (ClinicalTrials.gov Identifier: NCT05483374). STUDY DESIGN: Registry-based cohort study including only people with rare head and neck cancers. OBJECTIVES: to help describe the natural history of rare head and neck cancers;to evaluate factors that influence prognosis;to assess treatment effectiveness;to measure indicators of quality of care. METHODS: Settings and participants It is an hospital based registry established in hospitals with expertise in head and neck cancers. Only adult patients with epithelial tumours of nasopharynx; nasal cavity and paranasal sinuses; salivary gland cancer in large and small salivary glands; and middle ear will be included in the registry. This registry won't select a sample of patients. Each patient in the facility who meets the above mentioned inclusion criteria will be followed prospectively and longitudinally with follow-up at cancer progression and / or cancer relapse or patient death. It is a secondary use of data which will be collected from the clinical records. The data collected for the registry will not entail further examinations or admissions to the facility and/or additional appointments to those normally provided for the patient follow-up. Variables Data will be collected on patient characteristics (eg. patient demographics, lifestyle, medical history, health status); exposure data (eg. disease, procedures, treatments of interest) and outcomes (e.g. survival, progressi

Published
2023

13. Management of patients with early-stage colon cancer: Guidelines of the Italian Medical Oncology Association

Author

Salvatore, Lisa, Imperatori, M., Arnoldi, E., Carnaghi, C., Cordio, S., Cosimelli, M., Cremolini, C., Maiello, E., Martinelli, E., Normanno, N., Sciallero, S., Cannizzaro, R., Musio, D., Cinquini, M., Moschetti, I., Fittipaldo, V. A., Aprile, G., Beretta, G. D., Salvatore L., Salvatore, Lisa, Imperatori, M., Arnoldi, E., Carnaghi, C., Cordio, S., Cosimelli, M., Cremolini, C., Maiello, E., Martinelli, E., Normanno, N., Sciallero, S., Cannizzaro, R., Musio, D., Cinquini, M., Moschetti, I., Fittipaldo, V. A., Aprile, G., Beretta, G. D., and Salvatore L.

Abstract

About 75% of colorectal cancers are diagnosed as early stage, in which radical surgery is achievable. In the last decade, in Italy, the overall incidence of colorectal cancer has remained stable, while mortality gradually decreased, which is attributable to early diagnosis and improved medical, surgical and locoregional treatments. The Italian Medical Oncology Association formulated guidelines to manage early-stage colon cancer, including screening, diagnosis, treatment and follow-up, which we herein present.

Published
2020

14. Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

Author

Pastorino, L, Andreotti, V, Dalmasso, B, Vanni, I, Ciccarese, G, Mandalà, M, Spadola, G, Pizzichetta, Ma, Ponti, G, Tibiletti, Mg, Sala, E, Genuardi, M, Chiurazzi, P, Maccanti, G, Manoukian, S, Sestini, S, Danesi, R, Zampiga, V, La Starza, R, Stanganelli, I, Ballestrero, A, Mastracci, L, Grillo, F, Sciallero, S, Cecchi, F, Tanda, Et, Spagnolo, F, Queirolo, P, Italian Melanoma Intergroup, (IMI), Goldstein, Am, Bruno, W, Ghiorzo, P., Spadola G, Sala E, Genuardi M (ORCID:0000-0002-7410-8351), Chiurazzi P (ORCID:0000-0001-5104-1521), Grillo F, Pastorino, L, Andreotti, V, Dalmasso, B, Vanni, I, Ciccarese, G, Mandalà, M, Spadola, G, Pizzichetta, Ma, Ponti, G, Tibiletti, Mg, Sala, E, Genuardi, M, Chiurazzi, P, Maccanti, G, Manoukian, S, Sestini, S, Danesi, R, Zampiga, V, La Starza, R, Stanganelli, I, Ballestrero, A, Mastracci, L, Grillo, F, Sciallero, S, Cecchi, F, Tanda, Et, Spagnolo, F, Queirolo, P, Italian Melanoma Intergroup, (IMI), Goldstein, Am, Bruno, W, Ghiorzo, P., Spadola G, Sala E, Genuardi M (ORCID:0000-0002-7410-8351), Chiurazzi P (ORCID:0000-0001-5104-1521), and Grillo F

Abstract

The contribution of recently established or candidate susceptibility genes to melanoma missing heritability has yet to be determined. Multigene panel testing could increase diagnostic yield and better define the role of candidate genes. We characterized 273 CDKN2A/ARF and CDK4-negative probands through a custom-designed targeted gene panel that included CDKN2A/ARF, CDK4, ACD, BAP1, MITF, POT1, TERF2IP, ATM, and PALB2. Co-segregation, loss of heterozygosity (LOH)/protein expression analysis, and splicing characterization were performed to improve variant classification. We identified 16 (5.9%) pathogenic and likely pathogenic variants in established high/medium penetrance cutaneous melanoma susceptibility genes (BAP1, POT1, ACD, MITF, and TERF2IP), including two novel variants in BAP1 and 4 in POT1. We also found four deleterious and five likely deleterious variants in ATM (3.3%). Thus, including potentially deleterious variants in ATM increased the diagnostic yield to about 9%. Inclusion of rare variants of uncertain significance would increase the overall detection yield to 14%. At least 10% of melanoma missing heritability may be explained through panel testing in our population. To our knowledge, this is the highest frequency of putative ATM deleterious variants reported in melanoma families, suggesting a possible role in melanoma susceptibility, which needs further investigation.

Published
2020

21. Prevalence and significance of neck node metastases from oesophageal and stomach cancer at presentation

Author

Griffith, J F, Ahuja, A T, Chan, A C W, Ng, E, Leung, S F, Ng, C N, Leung, D K, Chow, L T C, Chung, S C S, Giesel, F L, Bongers, A, Zechmann, C, von Tengg-Kobligk, H, Weber, M A, Delorme, S, Ley, S, Kauczor, H U, Essig, M, Thoeny, Harriet C, De Keyzer, Frederik, Vandecaveye, Vincent, Chen, Feng, Verbeken, Eric K, Boesch, Chris, Ni, Yicheng, Landuyt, Willy, Marchal, Guy, Hermans, Robert, Vandecaveye, V, De Keyzer, F, Landuyt, W, Thoeny, H C, Sun, X, Chen, F, Marchal, G, Thys, M, Ni, Y, Hermans, R, Biscaldi, E, Comandini, D, Sciallero, S, Sobrero, A, Rollandi, G A, Kayani, I, Syed, R, Pakzad, F, Nagabushan, N, Groves, A M, Croasdale, I, Bomanji, J, Ell, P J, Petralia, G, Funicelli, L, Ferretti, S, Sonzogni, A, Bellomi, M, Bergman, A, Krause, J, Mahteme, H, Graf, W, Masselli, G, Manfredi, R, Brizi, M G, Nuzzo, G, Vecchioli, A, and Marano, P

Subjects
Symposium, Article
Published
2005

22. Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

Author

Ghiorzo, Paola, Pastorino, Lorenza, Queirolo, P, Bruno, William, Tibiletti, Mg, Nasti, Sabina, Andreotti, Virginia, Bressac de Paillerets, B, Bianchi, Giovanna, Genoa Pancreatic Cancer Study Group: Ghiorzo, P, Belli, F, Bonelli, L, Borgonovo, Giacomo, DE CIAN, Franco, Decensi, A, Dulbecco, Pietro, Filauro, M, Fornarini, G, Gozza, A, Grillo, Federica, Mastracci, Luca, Papadia, FRANCESCO SAVERIO, Romagnoli, P, Sacchi, G, Savarino, Vincenzo, Sciallero, S, and Bianchi Scarra, G.

Subjects
Oncology, Male, medicine.medical_specialty, Skin Neoplasms, Family Cancer History, Dermatology, General Biochemistry, Genetics and Molecular Biology, Melanoma susceptibility, Germline mutation, Internal medicine, Pancreatic cancer, medicine, Prevalence, Humans, Family, Genetic Predisposition to Disease, Family history, Melanoma, Germ-Line Mutation, MITF, Microphthalmia-Associated Transcription Factor, business.industry, Cancer, Kidney cancer, medicine.disease, Microphthalmia-associated transcription factor, Pedigree, Amino Acid Substitution, Italy, Case-Control Studies, Immunology, Female, business
Abstract

A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. The aim of this study was to test the prevalence of the MITF E318K mutation in 667 Italian melanoma patients. We observed significant associations between histological subtypes and family cancer history. Carriers exhibited a nearly threefold higher risk of developing melanoma compared with controls. Carriers were also more likely to have developed multiple primary melanomas (6.40-fold), compared with wt patients. Carriers with a personal and/or family history of pancreatic cancer and kidney cancer had a nearly 31- and eightfold higher risk of developing melanoma compared with wt patients. Our findings further support MITF as a medium-penetrance melanoma susceptibility gene, highlight a potential association with histological subtypes and suggest that MITF may predispose to pancreatic cancer.

Published
2012

23. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families

Author

Ghiorzo, Paola, Fornarini, G, Sciallero, S, Battistuzzi, Linda, Belli, F, Bernard, L, Bonelli, L, Borgonovo, Giacomo, Bruno, William, DE CIAN, Franco, Decensi, A, Filauro, M, Faravelli, F, Gozza, A, Gargiulo, Sara, Mariette, F, Nasti, Sabina, Pastorino, Lorenza, Queirolo, P, Savarino, Vincenzo, Varesco, L, Bianchi, Giovanna, Belli, F., Dulbecco, Pietro, Mastracci, Luca, Grillo, Federica, Papadia, FRANCESCO SAVERIO, Queirolo, P., Parodi, C., and Sacchi, G.

Subjects
Adult, Male, Candidate gene, PALB2, DNA Mutational Analysis, Biology, medicine.disease_cause, Germline mutation, Gene Frequency, CDKN2A, Pancreatic cancer, 80 and over, Genetics, medicine, Humans, Genetic Predisposition to Disease, Aged, Aged, 80 and over, Case-Control Studies, Cyclin-Dependent Kinase Inhibitor p16, Female, Genes, Neoplasm, Genetic Association Studies, Germ-Line Mutation, Italy, Middle Aged, Pancreatic Neoplasms, Genetics (clinical), Allele frequency, Mutation, Cancer, medicine.disease, Genes, Neoplasm
Abstract

Background Most familial pancreatic cancer (FPC) remains unexplained. The identification of individuals with a high genetic risk of developing pancreatic adenocarcinoma (PC) is important to elucidate its biological basis and is critical to better define emerging strategies for the detection of early pancreatic neoplasms. Patients and methods A series of 225 consecutively enrolled patients with PC were tested for CDKN2A mutations. After personal and family cancer histories of all the patients had been reviewed, a subset of the patients were classified as FPC and were also tested for mutations in PALLD, PALB2, BRCA1 and BRCA2 as FPC candidate genes. Results The CDKN2A mutation rate in the 225 PC cases was 5.7%. The CDKN2A founder mutations, p.E27X and p.G101W, were predominant, but the mutation spectrum also included p.L65P, p.G67R and two novel, potentially pathogenic variants, promoter variant c.-201ACTCCTTT and p.R144C. None of the patients with FPC harboured germline mutations in PALLD, PALB2 or BRCA2. One family was positive for the BRCA1 UV variant p.P727L. Strikingly, five of 16 patients with FPC (31%) carried CDKN2A mutations. Conclusion These findings suggest that a sizeable subset of Italian FPC families may carry CDKN2A mutations. This result may be of value for identifying the best candidates for future PC screening trials in Italy.

Published
2012

27. Prevalence of the E1317Q Variant of the APC Gene in Italian Patients with Colorectal Adenomas

Author

Gismondi, V., primary, Bonelli, L., additional, Sciallero, S., additional, Margiocco, P., additional, Viel, A., additional, Radice, P., additional, Mondini, P., additional, Sala, P., additional, Montera, M.P., additional, Mareni, C., additional, Quaia, M., additional, Fornasarig, M., additional, Gentile, M., additional, Pietro, G., additional, Rossini, P., additional, Arrigoni, A., additional, Meucci, G.M., additional, Bruzzi, P., additional, and Varesco, L., additional

Published
2002
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30. K-ras, p53 and APC mutations in sporadic colorectal adenomas

Author

Varesco, L, primary, Benedetti, L De, additional, James, R, additional, Gismondi, V, additional, Sciallero, S, additional, Bonelli, L, additional, Pellegata, N S, additional, Losi, L, additional, Ranzani, G N, additional, Aste, H, additional, and Ferrara, G B, additional

Published
1993
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32. Once-only sigmoidoscopy in colorectal cancer screening: follow-up findings of the Italian Randomized Controlled Trial--SCORE.

Author

Segnan N, Armaroli P, Bonelli L, Risio M, Sciallero S, Zappa M, Andreoni B, Arrigoni A, Bisanti L, Casella C, Crosta C, Falcini F, Ferrero F, Giacomin A, Giuliani O, Santarelli A, Visioli CB, Zanetti R, Atkin WS, and Senore C

Abstract

Background: A single flexible sigmoidoscopy at around the age of 60 years has been proposed as an effective strategy for colorectal cancer (CRC) screening.Methods: We conducted a randomized controlled trial to evaluate the effect of flexible sigmoidoscopy screening on CRC incidence and mortality. A questionnaire to assess the eligibility and interest in screening was mailed to 236,568 men and women, aged 55-64 years, who were randomly selected from six trial centers in Italy. Of the 56,532 respondents, interested and eligible subjects were randomly assigned to the intervention group (invitation for flexible sigmoidoscopy; n = 17,148) or the control group (no further contact; n = 17,144), between June 14, 1995, and May 10, 1999. Flexible sigmoidoscopy was performed on 9911 subjects. Intention-to-treat and per-protocol analyses were performed to compare the CRC incidence and mortality rates in the intervention and control groups. Per-protocol analysis was adjusted for noncompliance.Results: A total of 34,272 subjects (17,136 in each group) were included in the follow-up analysis. The median follow-up period was 10.5 years for incidence and 11.4 years for mortality; 251 subjects were diagnosed with CRC in the intervention group and 306 in the control group. Overall incidence rates in the intervention and control groups were 144.11 and 176.43, respectively, per 100,000 person-years. CRC-related death was noted in 65 subjects in the intervention group and 83 subjects in the control group. Mortality rates in the intervention and control groups were 34.66 and 44.45, respectively, per 100,000 person-years. In the intention-to-treat analysis, the rate of CRC incidence was statistically significantly reduced in the intervention group by 18% (rate ratio [RR] = 0.82, 95% confidence interval [CI] = 0.69 to 0.96), and the mortality rate was non-statistically significantly reduced by 22% (RR = 0.78; 95% CI = 0.56 to 1.08) compared with the control group. In the per-protocol analysis, both CRC incidence and mortality rates were statistically significantly reduced among the screened subjects; CRC incidence was reduced by 31% (RR = 0.69; 95% CI = 0.56 to 0.86) and mortality was reduced by 38% (RR = 0.62; 95% CI = 0.40 to 0.96) compared with the control group.Conclusion: A single flexible sigmoidoscopy screening between ages 55 and 64 years was associated with a substantial reduction of CRC incidence and mortality. [ABSTRACT FROM AUTHOR]

Published
2011
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34. Baseline findings of the Italian multicenter randomized controlled trial of "once-only sigmoidoscopy"--SCORE.

Author

Segnan N, Senore C, Andreoni B, Aste H, Bonelli L, Crosta C, Ferraris R, Gasperoni S, Penna A, Risio M, Rossini FP, Sciallero S, Zappa M, Atkin WS, SCORE Working Group -- Italy, Segnan, Nereo, Senore, Carlo, Andreoni, Bruno, Aste, Hugo, and Bonelli, Luigina

Abstract

Background: A single sigmoidoscopy examination at around age 60 years has been proposed as a cost-effective strategy to prevent colorectal cancer. A multicenter randomized controlled trial, the SCORE trial, is in progress in Italy to estimate the impact of this strategy on colorectal cancer incidence and mortality and the duration of the protective effect. We present the baseline screening outcomes.Methods: A questionnaire was mailed to a random sample of 236 568 people aged 55-64 years to assess their eligibility for and interest in screening. Those reporting a history of colorectal cancer, adenomas, inflammatory bowel disease, recent colorectal endoscopy, or two first-degree relatives with colorectal cancer were excluded. Eligible, interested respondents were assigned randomly to the control group (no further contact) or the intervention group (invitation to undergo sigmoidoscopy). Screenees with colorectal cancer, polyps larger than 5 mm, three or more adenomas, adenomas 5 mm or smaller with a villous component of more than 20%, or severe dysplasia were referred for colonoscopy.Results: Of the 56 532 respondents (23.9% of those invited), 34 292 were enrolled and 17 148 were assigned to the screening group. Of those, 9999 attended and 9911 were actually examined by sigmoidoscopy. Distal adenomas were detected in 1070 subjects (10.8%). Proximal adenomas were detected in 116 of 747 (15.5%) subjects without cancer at sigmoidoscopy who then underwent colonoscopy. A total of 54 subjects was found to have colorectal cancer, a rate of 5.4 per 1000 (54% of which were Dukes' A). The procedures were relatively safe, with two perforations (one in 9911 sigmoidoscopy exams and one in 775 colonoscopies) and one hemorrhage requiring hospitalization after polypectomy during colonoscopy. The pain associated with sigmoidoscopy was described as mild or less than expected by 83.3% of the screenees.Conclusion: Sigmoidoscopy screening is generally acceptable to recipients and safe. The high yield of advanced adenomas is consistent with the projected impact of sigmoidoscopy screening on colorectal cancer incidence. [ABSTRACT FROM AUTHOR]

Published
2002

35. Flow cytometric DNA index in the prognosis of colorectal cancer.

Author

Giaretti, Walter, Danova, Marco, Geido, Elio, Mazzini, Giuliano, Sciallero, Stefania, Aste, Hugo, Scivetti, Paolo, Riccardi, Alberto, Marsano, Barbara, Merlo, Franco, D'Amore, Emanuele S. G., Giaretti, W, Danova, M, Geido, E, Mazzini, G, Sciallero, S, Aste, H, Scivetti, P, Riccardi, A, and Marsano, B

Published
1991
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37. Do patients with rectosigmoid adenomas 5 mm or less in diameter need total colonoscopy?

Author

Sciallero, S., Bonelli, L., Aste, H., Casetti, T., Bertinelli, E., Bartolini, S., Parri, R., Castiglione, G., Mantellini, P., Costantini, M., Naldoni, C., and Bruzzi, P.

Abstract

Background: The need for colonoscopy in the care of patients with rectosigmoid adenoma 5 mm or less in diameter is still debatable. Methods: We estimated the prevalence of proximal adenomas among 3052 consecutive subjects undergoing total colonoscopy. Rectosigmoid adenoma was classified as diminutive (5 mm), small (6 to 10 mm), or large (>=11 mm). Advanced proximal adenoma was 10 mm in diameter or larger, or with a villous component, severe dysplasia, or infiltrating adenocarcinoma. Results: Proximal adenoma was found in 212 of 2483 patients (8.5%, 95% CI [7.5, 9.7]) without distal neoplastic polyps, 49 of 214 (22.9%, 95% CI [17.6, 29.2]) with diminutive, 44 of 174 (25.3%, 95% CI [19.1, 32.5] with small, and 70 of 181 (38.7%, 95% CI [31.6, 46.2]) with large distal adenoma. Advanced proximal adenoma was found in 49 (2.0%, 95% CI [1.5, 2.6]), 8 (3.7%, 95% CI [1.7, 7.5]), 17 (9.8%, 95% CI [6.0, 15.4]), and 29 patients (16.0%, 95% [11.2, 22.4]), respectively. In patients with distal adenoma risk for proximal lesions increased with increasing age, size, and number of distal adenomas (p = 0.01). Size of distal adenoma was the strongest predictor of the presence of proximal advanced adenoma (multivariate analyses). Conclusions: In a clinical setting, the decision to perform colonoscopy should take into account proximal lesions of clinical interest, life expectancy, costs, and risks associated with the procedure. When detection of advanced proximal adenoma is the goal, presence of distal diminutive adenoma alone might not be an indication for total colonoscopy. (Gastrointest Endosc 1999;50:314-21.)

Published
1999
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38. Distal hyperplastic polyps do not predict proximal adenomas: results from a multicentric study of colorectal adenomas

Author

Sciallero, S., Costantini, M., Bertinelli, E., Castiglione, G., Onofri, P., Aste, H., Casetti, T., Mantellini, P., Bucchi, L., Parri, R., Boni, L., Bonelli, L., Gatteschi, B., Lanzanova, G., Rinaldi, P., Giannini, A., Naldoni, C., and Bruzzi, P.

Abstract

Background: The association between distal hyperplastic polyps and proximal adenomas is still a matter of debate. We investigated this association while taking into account patient characteristics. Methods: After exclusion of patients with inflammatory bowel diseases, familial adenomatous polyposis, or any cancer, 3088 eligible consecutive subjects aged 18 to 69 years underwent total colonoscopy in four gastroenterology units. The odds ratios (OR) of having proximal adenomas according to patient characteristics (age, sex, medical center, year of endoscopy, reasons for referral, and distal findings) were estimated in univariate and multivariate analyses. Results: Patients with distal polyps of any type showed an adjusted OR of 2.5 (95% CI [1.9, 3.1] p < .001) of having proximal adenomas as compared with those without distal polyps. When distal adenomas and distal hyperplastic polyps were included in the multivariate model as independent factors, the presence of adenomas significantly increased the risk of proximal adenomas (OR = 2.8: 95% CI [2.2, 3.6] p < .001), whereas the presence of hyperplastic polyps did not (OR = 1.1: 95% CI [0.8, 1.5] p = .64). No association with number, size, or location of distal hyperplastic polyps was seen. Conclusions: Our data show that the presence of hyperplastic polyps should not be the sole indication for total colonoscopy because they are not associated with proximal adenomas when adjusting for patient characteristics and presence of distal adenomas. (Gastrointest Endos 1997;46:124-30.)

Published
1997
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41. Gastroesophageal reflux disease: Relationship between clinical and histological features

Author

Aste, H., Bonelli, L., Ferraris, R., Conio, M., Lapertosa, G., Munizzi, F., Sciallero, S., Paolo Bruzzi, Baracchini, P., Fulcheri, E., D Onofrio, V., Iaquinto, G., Ravelli, P., Missale, G., Cestari, R., Macrì, G., Salvadori, G., Briglia, R., Podestà, O., Marchi, S., Costa, F., Maltinti, G., Sablich, R., Lacchin, T., Benedetti, G., Lombardo, L., Fracchia, M., and Pera, A.

43. Erratum: Endoscopy (1993) 25 (648)

Author

Sciallero, S., Giaretti, W., BONELLI LUIGINA, Geido, E., Rapallo, A., Conio, M., Ravelli, P., Lombardo, L., Briglia, R., Lapertosa, G., and Aste, H.

45. Barrett's esophagus in patients referred for upper gastrointestinal endoscopy

Author

Conio, M., BONELLI LUIGINA, Picasso, M., Antonelli, G., Aste, H., Munizzi, F., Sciallero, S., Bruzzi, P., Gocioso, L., Lapertosa, G., Baracchini, P., Fulcheri, E., Ravelli, P., Missale, G., Cestari, R., Picciotto, A., Mele, R., Celle, G., Bovero, E., Cheli, R., Briglia, R., Podesta, O., Rainisio, C., Marenco, G., Ghezzo, L., Asnaghi, G., Ferro, G. F., Lombardo, L., La Pierre, M., Ferraris, R., Fracchia, M., Babando, G. B., Sablish, R., Lacchin, T., Benedetti, G., Marchi, S., Costa, F., Maltinti, G., D Onofrio, V., Iaquinto, G., Macri, G., and Salvadori, G.

46. Genetic events in sporadic colorectal adenomas: K-ras and p53 heterozygous mutations are not sufficient for malignant progression

Author

Benedetti, L., Varesco, L., Pellegata, N. S., Losi, L., Gismondi, V., Casarino, L., Sciallero, S., Bonelli, L., Biticchi, R., Bafico, A., Masetti, E., James, R., Heouaine, A., Guglielmina Ranzani, Aste, H., and Ferrara, G.

Subjects
Adenoma, Adult, Aged, 80 and over, Male, p53, colorectal adenomas, K-ras, LOH, Middle Aged, Genes, p53, Polymerase Chain Reaction, Genes, ras, Humans, Point Mutation, Female, Chromosome Deletion, Codon, Colorectal Neoplasms, Aged, Chromosomes, Human, Pair 17
Abstract

Twenty-four sporadic colorectal adenomas were analysed for the presence of allelic loss on the short arm of chromosome 17 as well as mutations in the K-ras and p53 genes. Chromosome 17p13 allelic loss was not present in 14 out of 14 informative cases. K-ras mutations were observed in 15 out of 24 cases. A p53 gene mutation (GGC--GAC at codon 245) was detected in two biopsies taken at a four year interval from a recurrent rectal villous adenoma. Both biopsies also contained the same K-ras gene mutation (GGT--GTT at codon 12). The data from the recurrent rectal adenoma provide in vivo evidence that K-ras and p53 heterozygous mutations confer a proliferative advantage but together are not sufficient for malignant transformation.

50. Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine

Author

Davide Serrano, Paola Patrignani, Vittoria Stigliano, Daniela Turchetti, Stefania Sciallero, Franco Roviello, Alessandro D’Arpino, Ignazio Grattagliano, Salvo Testa, Cristina Oliani, Lucio Bertario, Bernardo Bonanni, Serrano D., Patrignani P., Stigliano V., Turchetti D., Sciallero S., Roviello F., D'arpino A., Grattagliano I., Testa S., Oliani C., Bertario L., and Bonanni B.

Subjects
Heterozygote, Lynch syndrome, Aspirin, Anti-Inflammatory Agents, Non-Steroidal, Genetics, Humans, Precision Medicine, neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, digestive system diseases, Genetics (clinical)
Abstract

Cancer prevention in the era of precision medicine has to consider integrated therapeutic approaches. Therapeutic cancer prevention should be offered to selected cohorts with increased cancer risk. Undoubtedly, carriers of hereditary cancer syndromes have a well-defined high cancer risk. Lynch Syndrome is one of the most frequent hereditary syndromes; it is mainly associated with colorectal cancer (CRC). Nonsteroidal anti-inflammatory drugs and, in particular, aspirin use, has been associated with reduced CRC risk in several studies, initially with contradictory results; however, longer follow-up confirmed a reduced CRC incidence and mortality. The CAPP2 study recruited 861 Lynch syndrome participants randomly assigned to 600 mg of aspirin versus placebo. Like sporadic CRCs, a significant CRC risk reduction was seen after an extended follow-up, with a median treatment time that was relatively short (2 years). The ongoing CAPP3 will address whether lower doses are equally effective. Based on pharmacology and clinical data on sporadic CRCs, the preventive effect should also be obtained with low-dose aspirin. The leading international guidelines suggest discussing with Lynch syndrome carriers the possibility of using low-dose aspirin for CRC prevention. We aim systematically promote this intervention with all Lynch syndrome carriers.

Published
2022

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