Recent studies have revealed a significant proportion of BRCA1 exon deletions or duplications in breast-ovarian cancer families with high probability of BRCA1- or BRCA2-linked predisposition, in which mutations of these genes have not been found. The difficulty of detecting such heterozygous rearrangements has stimulated the development of several new screening methods. Quantitative fluorescent multiplex PCR is based on simultaneous amplification of multiple target sequences under conditions that allow rapid and reliable quantitative comparison of the fluorescence of each amplicon in test samples and in controls. The modified method described here, named quantitative multiplex PCR of short fluorescent fragments (QMPSF), is particularly well suited for large genes. All BRCA1 coding exons were analyzed using four multiplexes in 52 families without point mutations in the exons or splice-sites of BRCA1 and BRCA2, and selected because of high probability of a BRCA1- or BRCA2-linked genetic predisposition. Five distinct BRCA1 rearrangements were detected: a deletion of exons 8-13, a duplication of exons 3-8, a duplication of exons 18-20, a deletion of exons 15-16, and a deletion of exons 1-22-which is the largest deletion found so far within the BRCA1 gene. The method described here lends itself to rapid, sensitive, and cost-effective search of BRCA1 rearrangements and may be included into the routine molecular analysis of breast-ovarian cancer predispositions. Hum Mutat 20:218-226, 2002.
At present, the various mechanisms involved in 5-fluorouracil (5-FU)-correlated cardiotoxicity remain to be elucidated and a universally accepted prophylaxis or treatment for this specific toxicity is not available. Although it may improve time to progression, survival and clinical benefit, a 5-FU-based regimen usually has to be discontinued if a patient experiences cardiotoxicity. Here, we describe our experience with three cases of 5-FU-associated cardiotoxicity. The angina-like pain that appeared approximately 95 h after beginning 5-FU therapy was apparently independent of the drug's administration modality. In the two patients receiving 5-FU 12-h flat continuous infusion from 22.00 to 10.00 h (5-FU 12-h c.i.) in combination with other drugs, the dose of 5-FU was reduced by 10 -20% and patients received prophylactic transepidermal nitroglycerin. In the third patient, 5-FU administration modality was changed and prophylactic therapy was not given. By taking these precautions, the patients no longer complained of anginal pain and none of them discontinued chemotherapy. (Kohne et al, 1998). The spectrum of toxicities associated with 5-FU involves the gastrointestinal tract, the bone marrow, the skin and the central nervous system. Last, but not the least, 5-FU may give cardiac toxicity that is less familiar to physicians and this may present as precordial pain, atrial arrhythmias, electrocardiogram (EKG) ST-T wave changes, ventricular dysfunction and cardiogenic shock.The overall incidence of 5-FU cardiotoxicity varies from 1.2 to 18% of patients and is usually underestimated, since silent EKG alterations often occur (Klaus Becker et al, 1999). The different mechanisms involved in 5-FU-associated cardiotoxicity are not yet fully understood and no unequivocally effective prophylaxis or treatment for this specific toxicity exists. Here, we describe three cases of 5-FU-associated cardiotoxicity, its clinical management and the prophylactic treatment used. PATIENTS AND METHODS Case 1A 57-year-old male, with positive family history for acute myocardial infarction (AMI) but with no history of cardiovascular disease, came to our observation after undergoing an anterior resection of the rectum for a stage III rectal -sigmoid adenocarcinoma (RSA) ( Table 1). Physical examination, chest X-rays, blood pressure and EKG were all within normal limits. The patient received four cycles of adjuvant chemotherapy with 5-FU (370 mg m À2 day À1 ) and folinic acid (FA) (50 mg tot À1 ) i.v. for 5 days, every 3 weeks.During adjuvant chemotherapy, disease progressed with liver metastasis and the patient's therapy was changed to irinotecan (180 mg m À2 ) day 1 and 5-Fu 12-h flat continuous infusion from 22.00 to 10.00 h (5-FU 12-h c.i.) (900 mg m À2 day À1 ) for 4 days, every 2 weeks. Approximately 93 h after starting the first cycle of the second 5-FU regimen, the patient presented angina-like pain that lasted a few minutes and disappeared with oral nitroglycerin. The blood pressure was 160/115 mmHg and the heart rate was 105 beats min...
Evidence continues to suggest that patients with cancer require more information about their disease and its consequences. To evaluate the information needs of patients with advanced melanoma compared to patients with other malignancies, a cross-sectional study was conducted on 221 unselected patients from the oncology department of a dermatologic hospital In Italy. Patients completed the Edmonton Symptom Assessment System and the Need Evaluation Questionnaire, two standardized tools for symptoms and psychosocial needs assessment. Results highlight that patients with advanced melanoma have, in general, a higher need for information compared to patients with other cancers, even if they report fewer symptoms. Future studies on the needs of patients with melanoma may contribute to tailored and more satisfactory patient-centered care. Recommendations for clinical practice include that particular attention should be paid by the oncology team to the need for a strong therapeutic relationship.
Background: Ultrasound (US), Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) are widely used in the clinical diagnosis of parotid gland tumors and their efficacy in identifying benign lesions is well documented. However, problems arise when facing some malignant lesions. Only few cases of salivary gland low grade malignant tumors have been previously reported in the literature complete with the radiological features.
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