Manejo clínico y quirúrgico de los feocromocitomas y paragangliomas / Clinical and surgical management of pheochromocytomas and paragangliomas

Los feocromocitomas y paragangliomas (Feo/PGL) son tumores neurendocrinos raros con diferentes presentaciones clínicas, asociados a alta morbimortalidad. Reconocer los signos y síntomas es el paso diagnóstico inicial. Las metanefrinas fraccionadas urinarias tienen una excelente sensibilidad y especificidad. La tomografía computarizada (TC) es el método de elección para su localización. La tomografía por emisión de positrones (PET) con F18-fluordeoxiglucosa (F18-FDG) es el método funcional recomendado para detectar metástasis. La resección quirúrgica constituye la única opción curativa en estos pacientes. La adrenalectomía laparoscópica es la vía de abordaje para la mayoría los Feo/PGL. El tratamiento farmacológico, 7 a 14 días previos con alfabloqueantes y betabloqueantes, tiene como objetivo normalizar la presión arterial y prevenir complicaciones cardiovasculares periquirúrgicas. Se conoce que al menos un tercio de los pacientes presentan una mutación genética germinal. El estudio genético debe estar orientado a las características sindrómicas, formas de presentación, localización y fenotipo bioquímico del tumor. Se recomienda el abordaje interdisciplinario en centros especializados con experiencia en esta patología poco frecuente. (AU)

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors with different clinical manifestation associated with high morbidity and mortality. Recognize signs and symptoms is the first step in diagnosis. Urinary fractionated metanephrines have an excellent specificity and sensitivity. Computed Tomography (CT) is the first-choice imaging modality for location. F18-DG positron tomography (PET)/CT scanning is the functional modality of choice for metastatic disease. Surgery is the only curative treatment. Minimally invasive adrenalectomy is the surgical approach for most adrenal pheochromocytomas. Perioperative alpha and beta blockade for 7 to 14 days normalize blood pressure and prevent perioperative cardiovascular complications. Is recognize that at least one-third of the patients have disease-causing germline mutations. Genetic testing must be orientated to syndromic features, presentation, localization and biochemical profile of these tumors. Multidisciplinary teams at centers with appropriate expertise are recommended to ensure a favorable outcome. (AU)

[Percutaneous puncture and drainage previous to elective surgical resection of a pheochromocytoma presenting as a retroperitoneal abscess: report of one case]. / Feocromocitoma: punción y drenaje percutáneo precirugía en un caso que se presentó como absceso retroperitoneal.

We report a 57 year-old woman with a big partially cystic adrenal pheochromocytoma presenting with high fever and abdominal pain. Based on CT scan images and before knowing urinary catecholamines level, the diagnosis of sepsis secondary to an abscessed adrenal macrotumor was done. A diagnostic percutaneous fine-needle puncture and aspiration was done and antibiotic therapy was started. One week later an open surgical drainage and installation of percutaneous drainage tubes was carried out. Both procedures were uneventful and the patient improved dramatically. Three months later a definitive excision surgery was done. After 14 months of follow up, the patient is in excellent conditions and her abdominal CT scan is normal.

Feocromocitoma: punción y drenaje percutáneo precirugía en un caso que se presentó como absceso retroperitoneal / Percutaneous puncture and drainage previous to elective surgical resection of a pheochromocytoma presenting as a retroperitoneal abscess: Report of one case

We report a 57 year-old woman with a big partially cystic adrenal pheochromocytoma presenting with high fever and abdominal pain. Based on CT scan images and before knowing urinary catecholamines level, the diagnosis of sepsis secondary to an abscessed adrenal macrotumor was done. A diagnostic percutaneous fine-needle puncture and aspiration was done and antibiotic therapy was started. One week later an open surgical drainage and installation of percutaneous drainage tubes was carried out. Both procedures were uneventful and the patient improved dramatically. Three months later a definitive excision surgery was done. After 14 months of follow up, the patient is in excellent conditions and her abdominal CT scan is normal.

Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.

We report a novel germ-line point mutation in the von Hippel-Lindau (vhl) gene in a family with childhood occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extra-adrenal localization. Both patients presented cardiac arrest while exposed to surgical stress and severe hypoglycemia was registered in the son. The outcome was uneventful. A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the von Hippel-Lindau type 2C disease phenotype. Whether this mutation is linked to the metabolic alterations developed by these patients remains to be determined.

Incidentaloma adrenal com elevaçäo de normetanefrinas urinárias: Caso 04/96 (MAM, RG 095.567-2, Santa Casa de Misericórdia de Belo Horizonte, MG) / Incidental adrenal masses with increase of urinary normetanephrine: Case 04/96 (MAM, RG 095.567-2, Santa Casa de Misericórdia de Belo Horizonte, MG)

O avanço tecnológico na obtençäo de imagens em medicina (ultrassonografia, tomografia computadorizada e ressonância nuclear magnética) tem proporcionado uma precisäo de detalhes cada vez maior. Por isso, a incidência de achados de massas acidentais está aumentando na mesma proporçäo, obrigando-nos a deparar com novos desafios diagnósticos e terapêuticos. O incidentaloma da adrenal apresenta-se nesta categoria, constituindo um problema diagnóstico e um dilema terapêutico. O feocromocitoma é um tumor raro, que incide em apenas 0,1 por cento dos indivíduos hipertensos e se carateriza por extrema variabilidade na sua expressäo clínica. Raramente o tumor é clinicamente silencioso, porém, frequentemente, seu diagnóstico é estabelecido somente após remoçäo de um incidentaloma adrenal ou autópsia. Neste relato de caso apresentamos uma paciente assintomática, portadora de feocromocitoma silencioso, com aumento apenas dos níveis de normetanefrinas urinárias, alertando para a importância da investigaçäo funcional destas massas encontradas incidentalmente. Os resultados alterados em apenas um dos metabólitos urinários de catecolaminas (HPLC) confirmam achados prévios, de serem estes os mais sensíveis para investigaçäo dos incidentalomas adrenais na detecçäo de feocromocitomas.

The clonidine test for the diagnosis of pheochromocytoma: the usefulness of urinary metanephrine measurements.

1. The clonidine suppression of urinary metanephrines as a criterion for the diagnosis of pheochromocytoma is described. Twenty-four patients were divided into 3 groups: Group I, 10 patients with pheochromocytoma (confirmed by tomography and surgery); Group II, 9 patients with suspected pheochromocytoma (clinical evidence plus one mildly elevated value of urinary metanephrines, but with negative tomography); Group III, 5 patients with proven essential hypertension. 2. Urinary metanephrine levels were determined in urine collected before (basal) and 3 h after a single oral dose of clonidine (0.4 or 0.8 mg). 3. Mean basal urinary metanephrine levels were above normal for group I (9.2 +/- 2.2 micrograms/mg creatinine) and group II (2.2 +/- 0.3 micrograms/mg creatinine) but were within the normal range for group III (0.6 +/- 0.1 microgram/mg creatinine). After clonidine administration, urinary metanephrine levels remained elevated for all patients with pheochromocytoma but decreased to within the normal range for all but one patient in group II. The urinary metanephrine levels of group III were not significantly altered by clonidine. 4. These data demonstrate that, when monitored by the clonidine suppression test, urinary metanephrine levels are useful for the diagnosis of pheochromocytoma, permitting the differentiation of affected patients from those exhibiting essential hypertension and increased sympathetic drive.

[Pheochromocytoma and pregnancy (3 cases)]. / Feocromocitoma y embarazo (tres casos).

In this paper, a review of pregnancy and pheocromocytoma is shown. The importance of early diagnostic and adequate management is essential in this patients. When this associations exists the management must be very carefully considered to avoid high mortality risks for both, fetus and mother. 56 cases of pheocromocytoma were studied at the Instituto Nacional de Cardiología, three of them were pregnant women which are described in this work.