Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.

METHODS: Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS: Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non-BRCA1/2 genes. CONCLUSION: Testing for non-BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

AIMS: Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed. METHODS: In 2014, experts met to discuss recent advances on this topic and update clinical guidance. RESULTS: Emerging disease-specific tools, including FabryScan, Fabry-specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease-specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs. CONCLUSION: To improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications.

[Results of adjuvant chemoradiation after curative surgery for gastric cancer: a retrospective study]. / Quimiorradioterapia adyuvante en el cáncer gástrico resecado con intención curativa: Análisis de supervivencia y toxicidad de pacientes tratados entre 1995 y 2003 en el Instituto Nacional del Cáncer, Chile.

BACKGROUND: Survival rates after curative surgery for gastric cancer are disappointing. Therefore adjuvant therapeutic strategies are required. AIM: To analyze survival and side effects of treatment among gastric cancer patients treated with adjuvant chemo radiotherapy after curative resection of gastric adenocarcinoma. MATERIAL AND METHODS: Retrospective review of medical records of 74 patients aged 20 to 74 years, treated with complete resection of gastric adenocarcinoma followed by adjuvant chemo radiation. Survival analysis was based on the records and information from the National Mortality Registry. RESULTS: Five years survival fluctuated from 50% among patients in stage IB to 25% among those is stage IV. Significant acute toxicity was observed in 23 patients (31%). No patients died due to acute toxicity. Eleven patients (16.4%) developed significant late toxicity, with two possible deaths related to treatment. CONCLUSIONS: Postoperative chemo radiotherapy is feasible in our experience. Continues infusion of 5-fluoruracil is recommended to reduce toxicity.

Quimiorradioterapia adyuvante en el cáncer gástrico resecado con intención curativa: análisis de supervivencia y toxicidad de pacientes tratados entre 1995 y 2003 en el Instituto Nacional del Cáncer, Chile / Results of adjuvant chemoradiation after curative surgery for gastric cancer: a retrospective study

Background: Survival rates after curative surgery for gastric cancer are disappointing. Therefore adjuvant therapeutic strategies are required. Aim: To analyze survival and side effects of treatment among gastric cancer patients treated with adjuvant chemo radiotherapy after curative resection of gastric adenocarcinoma. Material and methods: Retrospective review of medical records of 74 patients aged 20 to 74 years, treated with complete resection of gastric adenocarcinoma followed by adjuvant chemo radiation. Survival analysis was based on the records and information from the National Mortality Registry. Results: Five years survival fluctuated from 50 percent among patients in stage IB to 25 percent among those is stage IV. Significant acute toxicity was observed in 23 patients (31 percent). No patients died due to acute toxicity. Eleven patients (16.4 percent) developed significant late toxicity, with two possible deaths related to treatment. Conclusions: Postoperative chemo radiotherapy is feasible in our experience. Continues infusion of 5-fluoruracil is recommended to reduce toxicity.

Reconstrucción faringoesofágica con colgajo pectoral mayor / Pharyngoesophageal reconstruction with pectoralis major flaps

Se analiza 10 casos de pacientes portadores de tumores localizados en faringolaringe y esófago cervical que fueron operados y reconstruidos con un colgajo miocutáneo pectoral mayor en forma primaria. En todos estos casos no fue posible usar la mucosa faringoesofágica para cerrar en forma primaria debido a la extensión tumoral. La morbilidad fue de un 10%y la mortalidad de un 20%. En 7 casos se obtuvo una buena restitución de la alimentación oral. La técnica se considera para lesiones faringoesofágicas y en pacientes de alto riesgo quirúrgico

Carcinoma neuroendocrino de la piel (carcinoma de células de Merkel) / Cutaneous neuroendocrine carcinoma (carcinoma of Merkel's cell)

Se presenta una paciente de 70 años de edad con carcinoma neuroendocrino de la piel extenso localizado en la región cigomática. El diagnóstico preciso es efectuado combinando parámetros clínicos, histológicos y tinción de inmunoperoxidasa para la búsqueda de enolasa neuroespecífica y cromogranina. El tratamiento elegido fue biasociado consistente en radioterapia y quimioterapia. Se revisa de la literatura aspectos clínicos, diagnósticos y tratamiento