Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico

Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraga...

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Autores principales:	Díaz,René E, Utreras,Carlos, Ascuí,Rodrigo, Hidalgo,Fernando, Véliz,Jesús, Wohllk,Nelson
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2011
Materias:	Gene Germ-line mutation Paraganglioma Pheochromocytoma Succinate dehydrogenase
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001100013
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spelling	oai:scielo:S0034-988720110011000132012-02-08Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínicoDíaz,René EUtreras,CarlosAscuí,RodrigoHidalgo,FernandoVéliz,JesúsWohllk,Nelson Gene Germ-line mutation Paraganglioma Pheochromocytoma Succinate dehydrogenase Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with para-ganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.139 n.11 20112011-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001100013es10.4067/S0034-98872011001100013
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Gene Germ-line mutation Paraganglioma Pheochromocytoma Succinate dehydrogenase
spellingShingle	Gene Germ-line mutation Paraganglioma Pheochromocytoma Succinate dehydrogenase Díaz,René E Utreras,Carlos Ascuí,Rodrigo Hidalgo,Fernando Véliz,Jesús Wohllk,Nelson Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
description	Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with para-ganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).
author	Díaz,René E Utreras,Carlos Ascuí,Rodrigo Hidalgo,Fernando Véliz,Jesús Wohllk,Nelson
author_facet	Díaz,René E Utreras,Carlos Ascuí,Rodrigo Hidalgo,Fernando Véliz,Jesús Wohllk,Nelson
author_sort	Díaz,René E
title	Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
title_short	Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
title_full	Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
title_fullStr	Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
title_full_unstemmed	Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
title_sort	paragangliomas múltiples asociados a mutación del gen sdhb: caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001100013
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Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico

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