Xeroderma pigmentosum: neck lymph node metastasis of a squamous cell carcinoma of the skin treated with cetuximab.

Xeroderma pigmentosum is a genodermatosis characterized by defects in the DNA nucleotide excision repair pathway, which increases the risk of suffering skin cancers. There is lack of information about the efficacy and toxicity of chemotherapy and radiotherapy in the treatment of these patients. We present the case of a xeroderma pigmentosum patient with a neck node recurrence of a squamous cell skin carcinoma that achieved a good response and survival with cetuximab.

Prevention of irinotecan associated diarrhea by intestinal alkalization. A pilot study in gastrointestinal cancer patients.

AIM AND BACKGROUND: Intestinal alkalization could prevent irinotecan associated diarrhea modulating some chemical equilibria between irinotecan metabolites. The aim of this study was to evaluate the efficacy of this procedure in advanced gastrointestinal cancer patients (GICP). MATERIALS AND METHOD: In this prospective study advanced GICP, receiving irinotecan based chemotherapy regimens, were well trained to add sodium bicarbonate to the water intake in order to accomplish intestinal alkalization. RESULTS: A total of twenty four advanced GICP were enrolled. Grade III-IV diarrhea has been observed in four patients (16%), some of whom had several risk factors for diarrhea. Only one out of seventeen colorectal cancer patients, receiving the irinotecan combination as first line therapy, had grade III-IV diarrhea. No side effects of the procedure have been appreciated. CONCLUSIONS: Intestinal alkalization may be effective as a preventive treatment for irinotecan associated diarrhea in chemotherapy regimens used in GICP. This procedure deserves further investigation.

Prevention of irinotecan associated diarrhea by intestinal alkalization. A pilot study in gastrointestinal cancer patients

No disponible

Aim and background. Intestinal alkalization couldprevent irinotecan associated diarrhea modulatingsome chemical equilibria between irinotecan metabolites.The aim of this study was to evaluate the efficacyof this procedure in advanced gastrointestinalcancer patients (GICP).Materials and method. In this prospective studyadvanced GICP, receiving irinotecan based chemotherapyregimens, were well trained to add sodiumbicarbonate to the water intake in order to accomplishintestinal alkalization.Results. A total of twenty four advanced GICP wereenrolled. Grade III-IV diarrhea has been observedin four patients (16%), some of whom had severalrisk factors for diarrhea. Only one out of seventeencolorectal cancer patients, receiving the irinotecancombination as first line therapy, had grade III-IVdiarrhea. No side effects of the procedure have beenappreciated.Conclusions. Intestinal alkalization may be effectiveas a preventive treatment for irinotecan associateddiarrhea in chemotherapy regimens used in GICP.This procedure deserves further investigation

Role of the CDKN2A locus in patients with multiple primary melanomas.

PURPOSE: We have studied a consecutive case series of patients with multiple primary melanoma (MPM) for the involvement of the melanoma susceptibility loci CDKN2A and CDK4. PATIENTS AND METHODS: One hundred four MPM patients (81 patients with two primary melanomas, 14 with three, five with four, one with five, two with six, and one with seven) were included. RESULTS: Seven different CDKN2A germline mutations were identified in 17 patients (16.3%). In total, we identified 15 CDKN2A exon 2, one exon 1alpha missense mutation, and one exon 1beta frameshift mutation. The age of onset was significantly lower and the number of primary melanomas higher in patients with mutations. CDKN2A mutations were more frequent in patients with familial history of melanoma (35.5%) compared with patients without (8.2%), with a relative risk (RR) of 4.32 (95% CI, 1.76 to 10.64; P = .001), and in patients with more than two melanomas (39.1%) compared with patients with only two melanomas (10%) with an RR of 3.29 (95% CI, 1.7 to 6.3; P = .002). The A148T polymorphism was more frequent in patients with MPMs than in the control population (P = .05). A variant of uncertain significance, A127S, was also detected in one patient. No CDK4 mutations were identified, suggesting that it has a low impact in susceptibility to MPM. CONCLUSION: MPM patients are good candidates for CDKN2A mutational screening. These patients and some of their siblings should be included in a program of specific follow-up with total body photography and digital dermoscopy, which will result in the early detection of melanoma in this subset of high-risk patients and improve phenotypic characterization.