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Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

Delgado, José F; Pérez E, María Javiera; Delgado, Dasha; Lagos, Carlos; Baudrand, René; Uslar, Thomas.
Rev. med. Chile; 150 (8), 2022
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing show...
Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen, Neoplasias de las Glándulas Suprarrenales/genética, Predisposición Genética a la Enfermedad, Mutación de Línea Germinal, Proteínas de la Membrana/genética, Mutación, Feocromocitoma/diagnóstico por imagen, Feocromocitoma/genética, Feocromocitoma/cirugía
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Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1

Ventura, Mara; Melo, Miguel; Carrilho, Francisco.
Arch. endocrinol. metab. (Online); 63 (5), 2019
ABSTRACT Objective To describe the prevalence, clinical characteristics and outcome of adrenal lesions in long-term follow-up of Multiple endocrine neoplasia type 1 (MEN1) patients. Subjects and methods We retrospectively studied sixteen patients from six families of individuals with MEN1. Adrenal in...
Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen, Neoplasias de las Glándulas Suprarrenales/genética, Estudios de Seguimiento, Neoplasia Endocrina Múltiple Tipo 1/diagnóstico por imagen, Neoplasia Endocrina Múltiple Tipo 1/genética, Estudios Retrospectivos
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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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What determines mortality in malignant pheochromocytoma? - Report of a case with eighteen-year survival and review of the literature

Andrade, Matheus de Oliveira; Cunha, Vinícius Santos da; Oliveira, Dayana Carla de; Moraes, Olívia Laquis de; Lofrano-Porto, Adriana.
Arch. endocrinol. metab. (Online); 62 (2), 2018
SUMMARY Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term s...
Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen, Neoplasias de las Glándulas Suprarrenales/genética, Neoplasias de las Glándulas Suprarrenales/mortalidad, Progresión de la Enfermedad, Mutación, Feocromocitoma/diagnóstico por imagen, Feocromocitoma/genética, Feocromocitoma/mortalidad, Pronóstico, Supervivencia, Factores de Tiempo, Tomografía Computarizada de Emisión de Fotón Único
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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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