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Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance

Gómez, Ana Milena; Soares, Diogo Cordeiro; Costa, Alexandre André Balieiro; Pereira, Daniele Paixão; Achatz, Maria Isabel; Formiga, Maria Nirvana.
Arch. endocrinol. metab. (Online); 63 (4), 2019
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the con...
Neoplasias de las Glándulas Suprarrenales/genética, Predisposición Genética a la Enfermedad, Pruebas Genéticas/métodos, Mutación de Línea Germinal/genética, Paraganglioma/genética, Linaje, Feocromocitoma/genética, Estudios Retrospectivos, Vigilancia de Guardia
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The clinical genetics of phaeochromocytoma and paraganglioma

Kavinga Gunawardane, P T; Grossman, Ashley.
Arch. endocrinol. metab. (Online); 61 (5), 2017
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis t...
Neoplasias de las Glándulas Suprarrenales/genética, Mutación de Línea Germinal/genética, Paraganglioma/genética, Feocromocitoma/genética
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Sunitinib in the therapy of malignant paragangliomas: report on the efficacy in a SDHB mutation carrier and review of the literature

Canu, Letizia; Pradella, Silvia; Rapizzi, Elena; Fucci, Rossella; Valeri, Andrea; Briganti, Vittorio; Giachè, Valentino; Parenti, Gabriele; Ercolino, Tonino; Mannelli, Massimo.
Arch. endocrinol. metab. (Online); 61 (1), 2017
SUMMARY Metastatic pheochromocytomas (PHEOs) and paragangliomas (sPGLs) are rare neural crest-derived tumors with a poor prognosis. About 50% of them are due to germ-line mutations of the SDHB gene. At present, there is no cure for these tumors. Their therapy is palliative and represented by different op...
Inhibidores de la Angiogénesis/uso terapéutico, Antineoplásicos/uso terapéutico, Indoles/uso terapéutico, Mutación/genética, Metástasis de la Neoplasia, Paraganglioma/irrigación sanguínea, Paraganglioma/tratamiento farmacológico, Paraganglioma/genética, Pirroles/uso terapéutico, Succinato Deshidrogenasa/genética, Sunitinib, Resultado del Tratamiento
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Manejo clínico y quirúrgico de los feocromocitomas y paragangliomas
Clinical and surgical management of pheochromocytomas and paragangliomas

Miguel, Valeria de; Cuffaro, Paula; Medici, Juan; Cavadas, Demetrio.
Rev. Hosp. Ital. B. Aires (2004); 35 (3), 2015
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 especifi...
Adrenalectomía/métodos, Diagnóstico Diferencial, Diagnóstico Precoz, Feocromocitoma/cirugía, Feocromocitoma/diagnóstico, Feocromocitoma/genética, Feocromocitoma/orina, Feocromocitoma/sangre, Grupo de Atención al Paciente, Paraganglioma/cirugía, Paraganglioma/diagnóstico, Paraganglioma/genética, Paraganglioma/orina, Paraganglioma/sangre, Tomografía Computarizada por Rayos X, Tomografía de Emisión de Positrones
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