ABSTRACT
The improvement of molecular alterations in cancer as well as the development of technology has allowed us to bring closer to clinical practice the determination of molecular alterations in the diagnosis and treatment of cancer. The use of multidetermination platforms is spreading in most Spanish hospitals. The objective of these clinical practice guides is to review their usefulness, and establish usage guidelines that guide their incorporation into clinical practice.
Subject(s)
Neoplasms , Humans , Neoplasms/diagnosis , Neoplasms/therapyABSTRACT
El carcinoma de células de Merkel (CM) es un tumor cutáneo infrecuente (0.28 (95% CI: 0.15-0.40) casos por 100 000 personas año) y agresivo. El diagnóstico inicial y el estadiaje presentan variabilidad, y las técnicas a emplear podrían no estar disponibles en todos los centros. Por otro lado, la baja incidencia dificulta en muchos centros el poder adquirir experiencia. Existen guías de práctica clínica para el cuidado del CM, pero en contextos diferentes y con una cobertura parcial de los problemas que los dermatólogos han identificado como principales. Por ello, la Fundación Piel Sana AEDV, ha impulsado la adaptación de Guías de Práctica Clínica (GPC) sobre el CM, formando parte del proyecto Libro Blanco del Cáncer Cutáneo. El objetivo de esta guía es mejorar la calidad asistencial de los pacientes con CM, utilizando recomendaciones adaptadas a nuestro medio y basadas en los datos más válidos posibles. Esta guía revisa las principales técnicas diagnósticas empleadas en el diagnóstico inicial y estadiaje, así como los procedimientos terapéuticos para los tumores localizados.
Subject(s)
Humans , Middle Aged , Carcinoma, Merkel Cell/diagnosis , Carcinoma, Merkel Cell/prevention & control , Carcinoma, Merkel Cell/drug therapyABSTRACT
We report on a 44-year-old female patient complaining of epigastric pain with an initial diagnosis of acute pancreatitis. Three months later, the symptoms reappeared and an abdomen computed tomography scan showed a mass in the third portion of the duodenum. After surgical resection, the pathologist confirmed malignant mesenchymal proliferation with a mitotic index of 2 mitoses/50 HPF. There was no tumour necrosis. The proliferation index (Ki 67) was 2%. A mutational analysis was carried out, which identified a mutation in c-KIT exon 9, with duplication of codons 502 and 503. A radical surgery was rejected by the patient and adjuvant therapy with imatinib at an initial dose of 400 mg/day was considered, with the intention of increasing the dose to 800 mg/day because of the presence of mutation in c-KIT exon 9 related to a poor response to imatinib. However, because of the adverse effects, the increase in the dose was ruled out, and the patient completed 1 year of adjuvant therapy with no evidence of disease relapse.
