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Andrea Veronesi

Publications and source records attributed to Andrea Veronesi.

At least 19 recordsLinked to original sources
PubMed2006

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

BACKGROUND: Breast cancer in men is an infrequent occurrence, accounting for approximately 1% of all breast tumors with an incidence of about 1:100,000. The relative rarity of male breast cancer (MBC) limits our understanding of the epidemiologic, genetic and clinical features of this tumor. METHODS: From 1997 to 2003, 10 MBC patients were referred to our Institute for genetic counselling and BRCA1/2 testing. Here we report on the genetic and phenotypic characterization of 10 families with MBC from the North East of Italy. In particular, we wished to assess the occurrence of specific cancer types in relatives of MBC probands in families with and without BRCA2 predisposing mutations. Moreover, families with recurrent BRCA2 mutations were also characterized by haplotype analysis using 5 BRCA2-linked dinucleotide repeat markers and 8 intragenic BRCA2 polymorphisms. RESULTS: Two pathogenic mutations in the BRCA2 gene were observed: the 9106C>T (Q2960X) and the IVS16-2A>G (splicing) mutations, each in 2 cases. A BRCA1 mutation of uncertain significance 4590C>G (P1491A) was also observed. In families with BRCA2 mutations, female breast cancer was more frequent in the first and second-degree relatives compared to the families with wild type BRCA1/2 (31.9% vs. 8.0% p = 0.001). Reconstruction of the chromosome phasing in three families and the analysis of three isolated cases with the IVS16-2A>G BRCA2 mutation identified the same haplotype associated with MBC, supporting the possibility that this founder mutation previously detected in Slovenian families is also present in the North East of our Country. Moreover, analysis of one family with the 9106C>T BRCA2 mutation allowed the identification of common haplotypes for both microsatellite and intragenic polymorphisms segregating with the mutation. Three isolated cases with the same mutation shared the same intragenic polymorphisms and three 5' microsatellite markers, but showed a different haplotype for 3' markers, which were common to all three cases. CONCLUSION: The 9106C>T and the IVS16-2A>G mutations constitute recurrent BRCA2 mutations in MBC cases from the North-East of Italy and may be associated with a founder effect. Knowledge of these two recurrent BRCA2 mutations predisposing to MBC may facilitate the analyses aimed at the identification of mutation carriers in our geographic area.

Adult↗
PubMed2006

Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case.

PURPOSE: We report the case of two siblings, clinically andendoscopically followed for 12 years, who displayed anattenuated adenomatous polyposis coli phenotype. METHODS: On workup for rectal bleeding with colonoscopy, we found multiple adenomas mainly right-sided in a 21-year-old female and the same colonic phenotype was observed in her 27-year-old brother. We made a clinical diagnosis of attenuated adenomatous polyposis coli and performed APC gene testing. Because they had refused the proposed ileorectal anastomosis surgical option, we planned a periodic, endoscopic follow-up. RESULTS: Gene testing did not confirm the clinical suspicion of attenuated adenomatous polyposis coli. Actually, we did not find anypathogenic mutation in APC gene and we recently identified a biallelic Y125C MYH defect. During the endoscopic follow-up, a progressive reduction of adenomas was seen. CONCLUSIONS: New insight colorectal cancer genetics have allowed definition of a new class of polyposis that applies to some patients with attenuated adenomatous polyposis coli phenotype as in the siblings we have described. To prevent colorectal cancer without recurring to surgery, colonoscopic polypectomy may be a suitable tool in controlling MYH polyposis.

Adenomatous Polyposis Coli↗
PubMed2005

Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases.

BACKGROUND: The clinical and pathological characteristics and the clinical course of patients with breast cancer and BRCA 1-2 mutation are poorly known. METHODS: From 1997, patients with breast cancer and a family history of breast or ovarian cancer were offered BRCA testing. The clinical and pathological features of patients with known BRCA status were retrospectively assessed and comparisons were made between cancers arising in BRCA positive and BRCA wild type (WT) patients respectively. Type of treatment, pattern of relapse, event (local relapse, contralateral breast cancer, metastases) free and overall survival were also compared in the two groups. Out of the 210 patients tested, 125 had been treated and followed-up at our Institution and were evaluated in this study. RESULTS: BRCA positive patients tended to be more often premenopausal (79% vs 65%) and to have positive lymphnodes (63% vs 49%), poorly differentiated tumours (76% vs 40%--p = 0.002 at univariate analysis, not significant at multivariate analysis) and negative estrogen receptors (43% vs 29%). Treatment was not different in the two groups. In the 86 BRCA-WT patients, the first event was a local relapse in 3 (3%), metachronous contralateral breast cancer in 7 (8%) and distant metastases in 16 (19%). In the 39 BRCA positive patients, the corresponding figures were 3 (8%), 8 (21%) and 3 (8%). There was no difference in event free survival, with a median of 180 months in both groups of patients. At 20 years, projected survival was 85% for BRCA positive patients and 55% for BRCA-WT, but this difference was not statistically significant. CONCLUSION: Although BRCA positive patients have more frequently negative prognostic factors, their prognosis appears to be equal to or better than in patients with BRCA-WT.

Breast Neoplasms↗
PubMed2005

Combined chemoimmunotherapy of metastatic melanoma: a single institution experience.

The addition of cytokines, such as interferon alpha-2b and interleukin-2, to chemotherapy in metastatic melanoma has produced conflicting results in phase II and III trials. We report our experience with a chemoimmunotherapeutic regimen using subcutaneous cytokines. Twenty-eight patients with advanced melanoma (median age, 45 years; male to female ratio, 19 : 9) were treated. Doses were as follows: cisplatin, 20 mg/m intravenously (iv) days 1-4; vinblastine, 1.6 mg/m iv days 1-4; dacarbazine, 800 mg/m iv day 1; interferon alpha-2b, 5 MIU/m subcutaneously (sc) days 1-5; interleukin-2, 9 MIU/m sc days 1-5 and 8-12. Treatment was repeated every 3 weeks for a maximum of six cycles. The response was assessed after two cycles and toxicity at every cycle, according to World Health Organization (WHO) and National Cancer Institute (NCI) criteria, respectively. At a median follow-up of 8 months, only four patients (14%) were still alive. The overall response rate was 33%, with three (11%) complete responses lasting for 17, 14 and >24 months. There were six (22%) partial responses and three stable disease. Amongst the responders, three patients progressed at the level of the central nervous system. The median time to progression and overall survival were 3.5 and 9 months, respectively. The most common grade 3-4 toxicity was neutropenia, reported in 25 of the 28 patients (92%). Only two patients (7%) experienced neutropenic fever. Thrombocytopenia grade 3-4 occurred in seven of the 28 patients (25%), with only one patient needing transfusional support. One toxic death due to neutropenic fever occurred. It can be concluded that the chemoimmunotherapy schedule evaluated is active and may be considered for patients with metastatic melanoma who have a good performance status and a limited disease burden.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2004

New oral drugs in older patients: a review of idarubicin in elderly patients.

Idarubicin (IDA) is a structural analogue of daunorubicin with the same mechanism of action. Unlike the other currently available anthracyclines, it has a significant oral bioavailability, which makes it particularly attractive for the treatment of elderly patients. IDA resulted at least as effective as daunorubicin for acute nonlymphocytic leukemia and additional data are in analysis as far as lymphomas and breast cancer are concerned. Adverse effects are mainly hematological, while hair loss, mucositis and cardiotoxicity are less frequently reported with IDA than with other anthracyclines. The pharmacokinetics, activity, adverse effects and new modalities of oral administration are reviewed.

Administration, Oral↗
PubMed2004

Pigmented mammary Paget's disease mimicking melanoma.

Our case of pigmented mammary Paget's disease simulated melanoma clinically and dermoscopically. Histologically, the lesion was characterized by microscopic features similar to those seen in malignant melanoma and, to a lesser extent, in Bowen's disease (intra-epidermal squamous cell carcinoma). Immunohistochemical studies demonstrated that the tumor cells were positive for keratins (Cam 5.2+MNF 116) and AE1-AE3 and negative for HMB-45 and S-100 proteins. In conclusion clinical and dermoscopic examination cannot reliably distinguish melanoma from epithelial pre-neoplastic or neoplastic disease, therefore the differentiation of pigmented Paget's disease from superficial spreading of melanoma and Bowen's disease is based on histopathologic integrated with immunohistochemical criteria.

Adult↗
PubMed2002

Comparison of ultrasonography, hysteroscopy, and biopsy in the diagnosis of endometrial lesions in postmenopausal tamoxifen-treated patients.

BACKGROUND: At present, no proven recommendations can be made for the surveillance of tamoxifen-treated women. The aim of the present study was to evaluate ultrasonography and hysteroscopy in this setting. METHODS: Three hundred and ten postmenopausal patients using tamoxifen underwent vaginal ultrasonography, hysteroscopy, and endometrial biopsy; 274 were asymptomatic and 49 had abnormal bleeding. Ultrasonographic endometrial thickness and echotexture were recorded. Hysteroscopic endometrial appearance, presence of focal endometrial lesions and polyps were also recorded. General or selective endometrial biopsy was performed. Ultrasonographic and hysteroscopic follow up was provided. RESULTS: At ultrasonography, mean endometrial thickness was 10.8 mm. At hysteroscopy, cystic atrophy and suspect focal lesions were detected in 49.2% and 5.3% of women, respectively. Polyps were present in 44.8% of women; 38.9% of these polyps were missed at ultrasonography, whereas 11.4% were suspected but were not found at hysteroscopy. At biopsy, non-atypical hyperplasia and atypical changes were found in 4.8% and 1.3% of patients, respectively. Three carcinomas were found, all in asymptomatic women. Logistic regression analysis showed that only suspect focal lesions at hysteroscopy were significantly associated with abnormal histology. With a 6-mm cut-off value for endometrial thickness, negative and positive predictive values for ultrasonography in detecting hyperplastic or neoplastic changes were 96% and 8%, respectively; the corresponding values for hysteroscopy were 96% and 65%. No additional carcinoma was found at follow up. CONCLUSIONS: No single ultrasonographic feature (echotexture and borders) is significantly associated with the detection of endometrial hyperplasia or carcinoma; hysteroscopy, although not predictive unless revealing a focal lesion, is more accurate in detecting polyps and hyperplastic changes.

Aged↗
PubMedDate not supplied

Idarubicin.

Explore the source record for details and available documents.

Administration, Oral↗
PubMedDate not supplied

Breast cancer and pregnancy.

The diagnosis of breast cancer during pregnancy is a rare event, but the young age of the patient together with the emotional impact for both the family and the doctors make therapeutic choices usually very difficult. Until recently, the occurrence of pregnancy associated breast cancer was thought to hold a grave prognosis and therapeutic abortion was very often advised in common practice. The hormonal environment with the increase in estrogens and progesterone was the main factor for the fear of tumor stimulation. The course of breast cancer, however, does not appear to be adversely affected by continuation of pregnancy. In the last years it was realized that potentially curative therapies can be administered even when pregnancy is continued. Of course in the medical literature there is no randomized clinical trial helping in taking decision in this setting; however, a significant experience already exists in some institutions and can guide management in these difficult cases. The aim of our review is to give an answer to questions usually coming from various specialists who collaborate with the oncologists in treating these patients and furthermore to try and find some basic guidelines which can be used in the information of the patients regarding previous experience in this field. The problem of a pregnancy after treatment for breast cancer is also analyzed, as this aspect is an emerging issue in clinical oncology. The decision should be evaluated for each single patient, taking into account the prognosis of the patient and her desire of pregnancy.

Breast Neoplasms↗
PubMedDate not supplied

Interobserver agreement of the dermoscopic diagnosis of 129 small melanocytic skin lesions.

AIM AND BACKGROUND: Dermoscopic diagnosis of pigmented skin lesions is based on the evaluation of dermoscopic criteria (classical pattern analysis) and on alternative diagnostic methods, such as the ABCD (A, asymmetry; B, border; C, color; D, differential structures) rule based on the total dermatoscopic score. The aim of the study was to investigate the interobserver agreement of standard dermoscopic criteria between two observers and the diagnostic validity of dermoscopic diagnosis by pattern analysis and by the ABCD rule. STUDY DESIGN: The study included a total of 129 small (< or = 5 mm) melanocytic skin lesions selected from all lesions observed in consecutive patients between April 1996 and September 1998. Before surgery, each lesion was photographed with a Dermaphot. Dermoscopic images were examined independently by two observers to evaluate the presence or absence of standard dermoscopic criteria and to establish the dermoscopic diagnosis by pattern analysis and by the ABCD rule. RESULTS: Interobserver agreement for dermoscopic criteria varied from moderately good to good, with the highest agreement for radial streaks (k = 0.96) and the lowest for pseudopods (k = 0.49). Interobserver agreement was moderately good in dermoscopic diagnosis by pattern analysis (k = 0.48) and by the total dermatoscopic score (k = 0.44). The sensitivity and specificity of dermoscopic diagnosis by pattern analysis were 40% and 99%, respectively, for both observers. As regards the total dermatoscopic score (a cutoff score of < or = 5.45 vs > 5.45), sensitivity ranged from 80% to 100% and specificity from 48% to 59%. CONCLUSIONS: The study showed that the pattern analyses as well as the ABCD rule give a poor discrimination between benign and malignant lesions and do not add relevant information for management decision in small melanocytic lesions. However, close follow-up examinations of small equivocal melanocytic lesions using digital equipment allow evaluation of their dermoscopic features during progression and whether their rather commonly found atypical dermoscopic features are lost during their natural course of growth.

Adolescent↗
PubMedDate not supplied

A two-year regional program for the early detection of cutaneous melanoma.

BACKGROUND: A regional program for the early diagnosis of cutaneous melanoma involving general practitioners was effective in 1997-1998 in the Friuli Venezia Giulia region in Northern Italy. The aim of the 2-year program was to evaluate the role of a skin examination performed by general practitioners in people older than 18 years without known skin lesions and spontaneously presenting to their offices for any reason, with referral of suspect cases to a pre-identified regional dermatology or plastic surgery institution. METHODS: In the preparatory phase (late 1995 and 1996), all general practitioners operating in the Friuli Venezia Giulia region (n = 1,038) were asked to participate in the program. Support from all regional dermatology, pathology and plastic surgery institutions was obtained. Operational procedures for the management of referred people were defined, and educational meetings directed to general practitioners interested in the program were held. Skin examinations by general practitioners started at the end of 1996 and took place during 1997 and 1998. Subsequently, information was obtained from participating general practitioners and from pathology institutions about the number and thickness of diagnosed melanomas, as well as the number of diagnosed skin carcinomas and dysplastic nevi. In addition, the thickness distribution of all melanomas diagnosed in the Friuli Venezia Giulia region before and during the program was obtained. RESULTS: A total of 153 general practitioners participated in the program, but only 74 were active and assessable. A total of 11,040 skin examinations was performed by these 74 general practitioners (median, 75 per general practitioner). In all, 820 people (7.4%) were referred for dermatological evaluation (median, 8 per general practitioner). Among these 820 people, at least 38 melanomas (4.6% of referred cases) were detected (18 < or = 1.5 mm, 11 > 1.5 mm thick, unknown in 9). The dermatological examinations/diagnosed melanomas ratio was 21. In addition, 94 skin carcinomas and 50 dysplastic nevi were detected. At the regional level, the percentage of thin melanomas rose from 65.3% in 1995-96 to 72.2% in 1997-98 (P = 0.04), whereas the number of thick melanomas declined. CONCLUSIONS: In our study, only a few general practitioners chose, in the absence of incentives, to participate in the study. However, the yield of melanomas, most of which were thin, was considerably high and the workload was acceptable. This compares favorably to experiences where dermatologists were involved directly without a filter work by general practitioners.

Diagnosis, Differential↗
PubMedDate not supplied

Acceptance of external infusion pumps in patients with advanced breast cancer receiving continuous infusion fluorouracil.

BACKGROUND: We investigated the physical and psychological adaptation to a protracted continuous infusion system in a series of patients receiving protracted continuous infusion of 5-fluorouracil for advanced breast cancer. PATIENTS AND METHODS: The protracted continuous infusion of 5-fluorouracil was administered by means of a portable elastomeric pump (Baxter Seven-Day Infusor, 0.5 mL/hr) via an indwelling Groshong catheter. Patients were asked to complete a questionnaire exploring the impact of the continuous infusion system upon various aspects of daily life, the overall level of disturbance, the general judgement on its quality, and their willingness to resume the same kind of treatment in the future. All items were graded on a 4-point scale from 0 = not at all, to 4 = very much. RESULTS: Seventy-one patients were evaluated. All patients received 5-fluorouracil at the dose of 250 mg/m2/day as a protracted continuous infusion alone (n = 14) or in combination with vinorelbine (n = 45) or Taxol (n = 12). The median duration of the protracted continuous infusion before evaluation was 9 months (3-31). The mean level of disturbance to daily activities was 0.86 points. The activities most frequently disturbed by treatment included daily personal care (mean, 1.76 points) and sexual activity (mean, 1.20 points). Twenty-one patients required medical intervention because of problems related to the protracted continuous infusion system. The overall level of disturbance was rated at a mean level of 0.72 points, whereas the overall merits of the protracted continuous infusion system and the willingness of the patient to resume protracted continuous infusion in the future were rated at a mean level of 2.90 and 2.55 points, respectively. CONCLUSIONS: The system for the protracted continuous infusion of 5-fluorouracil was well tolerated by the patients, who were able in most cases to perform their daily activities with little or no disturbance, needing only occasional help, and were willing to resume the same treatment modality if necessary.

Activities of Daily Living↗
PubMedDate not supplied

Opioid consumption in hospitals of the Friuli-Venezia Giulia region: a four-year retrospective study.

AIMS AND BACKGROUND: Opioid consumption for analgesic purposes is considered an important indicator of the quality of cancer pain treatment. Italy's consumption ranks among the lowest in economically developed countries. A lack of systematic education of health care professionals regarding pain control and a sort of "opiophobia" induced by measures designed to control the improper use of drugs have been indicated as possible reasons for this trend. The aim of this study was firstly to evaluate the level of opioid consumption at inpatient institutions (where opioid prescription rules have never been subjected to any restriction) and secondly to survey the attitude of the physicians working in general hospitals and specialized oncology institutions (oncology centers and hospices) towards opioid administration. METHODS: The authors performed a four-year survey (1996-1999) on the consumption of major opioids (morphine, meperidine, buprenorphine, transdermal fentanyl) among all the inpatient institutions (six regional/provincial hospitals, eleven district hospitals, the Aviano Oncology Institute and two hospices) of the Friuli-Venezia Giulia region in North-Eastern Italy. To facilitate data interpretation, all the opioids were converted to milligrams equivalent of oral morphine (mg OME). Data on the number of days of hospitalization of oncological patients in every institution were also collected. RESULTS: The overall consumption of opioids was 9,299,177 mg OME (83.3%) and 1,845,060 mg OME (16.7%) in general hospitals and specialized oncology institutions, respectively. Overall, the number of days of hospitalization of oncological patients was 1,121,142 (87%) and 167,665 (13%) in general hospitals and specialized oncology institutions, respectively. The ratio between the total dosage of mg OME administered and the total number of hospitalization days in general hospitals and specialized oncology institutions was 8.29 mg OME/day and 11 mg OME/day, respectively. CONCLUSIONS: Our data show that in specialized oncology institutions, opioid consumption was proportionally higher than in general hospitals. This result indicates the attitude of the physicians of these institutions towards opioid administration, probably due to the training received on cancer pain treatment, and emphasizes the need to educate all health care workers involved in the management of cancer patients.

Analgesics, Opioid↗