Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.

Chemotherapy-induced anemia and oncologist perception on treatment: results of a web-based survey.

AIMS AND BACKGROUND: Anemia prevalence and incidence in chemotherapy-treated patients is high. Erythropoiesis-stimulating agents (ESAs) are frequently employed in the management of chemotherapy-induced anemia. However, other treatments such as red blood transfusion or iron supplementation are normally used. Recent international guidelines raised some concern about ESAs employment with a possible impact in chemotherapy-induced anemia management and changes in clinical practice behavior. METHODS: To evaluate opinions about chemotherapy-induced anemia clinical management preference, the Associazione Italiana Oncologia Medica (AIOM) Lombardy section coordinators sent via email a 12-item questionnaire about their knowledge on CIA and usual therapeutic strategies to manage this adverse event to AIOM Lombardy onco-hematologist members. RESULTS: From January 2011 to March 2011, 81 questionnaires were collected with an approximated share of 30%. The survey was completed mainly by oncologists (91%) aged 35-50 years (50%). Chemotherapy-induced anemia was considered to have clinical impact in changing cancer therapeutic strategy by nearly 60% of the respondents. ESAs were administered largely (80%) with concomitant iron supplementation in 52%; 38% jointly used blood transfusion as part of the therapy. Nearly 20% of those who replied correctly employed transferrin saturation levels as a marker to guide iron supplementation. Physician prescribers strictly followed the guidelines to start and stop ESAs even if 14% were negatively influenced by new ASCO recommendations. ESA biosimilars were considered future substitutes of originators in 45% of the cases. CONCLUSIONS: Chemotherapy-induced anemia was perceived as an adverse event with a mild impact on clinical practice. ESAs were largely employed, however the number of transfusions and lack of employment of markers of iron depletion suggested that adherence to guidelines could be theoretically met but with some discordances regarding the most appropriate strategies in daily clinical practice.

Adjuvant treatment of high-risk, radically resected gastric cancer patients with 5-fluorouracil, leucovorin, cisplatin, and epidoxorubicin in a randomized controlled trial.

BACKGROUND: Promising findings obtained using a weekly regimen of 5-fluorouracil (5-FU), epidoxorubicin, leucovorin (LV), and cisplatin (PELFw) to treat locally advanced and metastatic gastric cancer prompted the Italian Group for the Study of Digestive Tract Cancer (GISCAD) to investigate the efficacy of this regimen as adjuvant treatment for high-risk radically resected gastric cancer patients. METHODS: From January 1998 to January 2003, 400 gastric cancer patients at high risk for recurrence including patients with serosal invasion (stage pT3 N0) and/or lymph node metastasis (stage pT2 or pT3 N1, N2, or N3), were enrolled in a trial of adjuvant chemotherapies; 201 patients were randomly assigned to receive the PELFw regimen, consisting of eight weekly administrations of cisplatin (40 mg/m2), LV (250 mg/m2), epidoxorubicin (35 mg/m2), 5-FU (500 mg/m2), and glutathione (1.5 g/m2) with the support of filgrastim, and 196 patients were assigned to a regimen consisting of six monthly administrations of a 5-day course of 5-FU (375 mg/m2 daily) and LV (20 mg/m2 daily, 5-FU/LV). Disease-free and overall survival were estimated and compared between arms using hazard ratios (HRs) and Kaplan-Meier estimates. All statistical tests were two-sided. RESULTS: The 5-year survival rates were 52% in the PELFw arm and 50% in the 5-FU/LV arm. Compared with the 5-FU/LV regimen, the PELFw regimen did not reduce the risk of death (HR = 0.95, 95% confidence interval [CI] = 0.70 to 1.29) or relapse (HR = 0.98, 95% CI = 0.75 to 1.29). Less than 10% of patients in either arm experienced a grade 3 or 4 toxic episode. Neutropenia (occurring more often in the PELFw arm) and diarrhea and mucositis (more prevalent in the 5-FU/LV arm) were the most common serious side effects. Nevertheless, only 19 patients (9.4%) completed the treatment in the PELFw arm and 85 (43%) patients completed the treatment in the 5-FU/LV arm. CONCLUSIONS: Our study found no benefit from an intensive weekly chemotherapy in gastric cancer. The extent of toxicity experienced by the patients in the adjuvant setting suggests that, in gastric cancer, chemotherapy may be more safely administered preoperatively.