Fernando Goni

Insuficiencia suprarrenal y su tratamiento sustitutivo. Su realidad en España

Adrenal insufficiency (AI) is a rare endocrine disease, associated to increased mortality if left untreated. It can be due to a primary failure of the adrenal glands (primary AI) or malfunctioning of the hypothalamic-pituitary-adrenal axis (HPA) (secondary AI). The lack of data on incidence/prevalence of adrenal insufficiency in Spain complicates any evaluation of the magnitude of the problem in our country. Initial symptoms are non-specific, so often there is a delay in diagnosis. Current therapy with available glucocorticoids is associated with decreased quality of life in patients with treated AI, as well as with increased mortality and morbidity, probably related to both over-treatment and lack of hydrocortisone, associated with non-physiological peaks and troughs of the drug over the 24 hours. The availability of a new drug with a modified dual release (immediate and retarded), that requires one only daily dose, improves and simplifies the treatment, increases compliance as well as quality of life, morbidity and possibly mortality. This revision deals with the knowledge on the situation both globally and in Spain, prior to the availability of this new drug.

BRAF V600E mutation in papillary thyroid cancer: clinical and pathological features. Is there any role in tailoring initial treatment?

Introduction: BRAF (V600E) mutation is the most frequent detected genetic alteration in papillary thyroid carcinomas (PTC) and its presence has been related to aggressive features. Lymph node metastases are common in PTC and are associated with an increase of loco regional recurrence. Nevertheless prophylactic lymph node dissection (PCLND) is not routinely performed because of high rate of surgical complications.

RevisionesFeocromocitoma: actualización diagnóstica y terapéuticaPheochromocytoma: Diagnostic and Therapeutic Update

Pheochromocytomas are catecholamine-secreting tumors that arise from chromaffin cells of the sympathetic nervous system. In 80-85% of cases, these tumors are located in the adrenal medulla while the remainder is located in extra-adrenal chromaffin tissues (paragangliomas). Pheochromocytomas account for 6.5% of incidentally discovered adrenal tumors. These tumors may be sporadic or the result of several genetic diseases: multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, neurofibromatosis type 1, and familial paraganglioma associated with mutations in succinate dehydrogenase subunits. Diagnosis of pheochromocytoma should first be established biochemically by measuring plasma free metanephrines and urinary fractionated metanephrines. The radiological imaging tests of choice are computed tomography (CT) or magnetic resonance imaging (MRI). The first-line specific functional imaging test is scintigraphy with (123)I-metaiodobenzylguanidine (MIBG); if this test is unavailable, scintigraphy with (131)I-MIBG is the second choice. Positron emission tomography (PET) with (18)F-F-fluorodopamine (F-DA) is useful in metastatic disease. The treatment of choice is laparoscopic surgery after adequate alpha adrenergic blockade. Approximately 10% of tumors are malignant. Chemotherapy is used for inoperable disease. Prognosis is good except in malignant disease, in which 5-year survival is less than 50%. The identification of the genes causing hereditary pheochromocytoma has led to changes in the recommendation for genetic testing.El feocromocitoma es un tumor productor de catecolaminas que procede de las celulas cromafines del sistema nervioso simpatico. El 80-85% se localiza en la medula adrenal y el resto, en el tejido cromafin extraadrenal (paraganglioma). Los feocromocitomas suponen el 6,5% de los incidentalomas suprarrenales. Pueden ser esporadicos o encontrarse asociados a varias enfermedades geneticas: neoplasia endocrina multiple 2, enfermedad de von Hippel-Lindau, neurofibromatosis de tipo 1 y paraganglioma familiar con mutaciones en la succinato deshidrogenasa. El diagnostico de feocromocitoma debe establecerse bioquimicamente mediante la determinacion de metanefrinas plasmaticas y/o urinarias. El diagnostico de localizacion inicialmente debe basarse en la realizacion de tomografia computarizada o resonancia magnetica. La gammagrafia con 123I-metayodobencilguanidina (MIBG) es la prueba funcional de imagen de eleccion; en su defecto puede realizarse con 131I-MIBG. La tomografia por emision de positrones con 18F-F-fluorodopamina ha resultado de utilidad en enfermedad metastasica. El tratamiento de eleccion es la cirugia por via laparoscopica, despues de la realizacion del bloqueo alfaadrenergico. Aproximadamente el 10% de los tumores son malignos. Para la enfermedad inoperable puede utilizarse la quimioterapia. El pronostico es bueno, excepto en los casos de enfermedad maligna donde la tasa de supervivencia a los 5 anos es menor del 50%. El conocimiento de nuevos genes causantes de enfermedad hereditaria ha supuesto un cambio en las recomendaciones sobre la necesidad de realizar estudio genetico.