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1.
BMC Endocr Disord ; 14: 63, 2014 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-25077599

RESUMEN

BACKGROUND: Kaposi sarcoma (KS) is a malignant disease most commonly diagnosed in the setting of a human immunodeficiency virus (HIV) infection and in patients receiving immunosuppressive treatment. Pulmonary KS has never been reported in association with endogenous Cushing's syndrome (CS). CASE PRESENTATION: A 60-year-old woman presented with symptoms and signs of CS. Adrenal CS was confirmed by standard biochemical evaluation. Imaging revealed a right adrenal lesion (diameter 3.5 cm) and multiple pulmonary nodules, suggesting a cortisol-secreting adrenal carcinoma with pulmonary metastases. The patient underwent right adrenalectomy with a pathohistological diagnosis of an adrenal adenoma. Subsequent thoracoscopic wedge resection of one lung lesion revealed pulmonary KS with positive immunostaining for human herpes virus 8 (HHV-8). HIV-serology was negative. Hydrocortisone replacement was initiated for secondary adrenal insufficiency after surgery. Post-operative follow up imaging showed complete remission of all KS-related pulmonary nodules solely after resolution of hypercortisolism. CONCLUSION: KS may occur in the setting of endogenous CS and may go into remission after cure of hypercortisolism without further specific treatment.


Asunto(s)
Neoplasias de la Corteza Suprarrenal/patología , Carcinoma Corticosuprarrenal/patología , Síndrome de Cushing/patología , Neoplasias Pulmonares/secundario , Sarcoma de Kaposi/patología , Neoplasias de la Corteza Suprarrenal/complicaciones , Neoplasias de la Corteza Suprarrenal/cirugía , Adrenalectomía , Carcinoma Corticosuprarrenal/complicaciones , Carcinoma Corticosuprarrenal/cirugía , Síndrome de Cushing/complicaciones , Síndrome de Cushing/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Hidrocortisona/administración & dosificación , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/cirugía , Persona de Mediana Edad , Pronóstico , Sarcoma de Kaposi/etiología , Sarcoma de Kaposi/cirugía
2.
Hum Mutat ; 32(1): 51-8, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20979234

RESUMEN

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present in 263 registrants, pheochromocytoma in 54, and hyperparathyroidism in 8 subjects. Of the patients with MTC, 53% were detected when asymptomatic, and among those with pheochromocytoma, 54%. Penetrance for MTC was 4% by age 10, 25% by 25, and 80% by 50. Codon-associated penetrance by age 50 ranged from 60% (codon 611) to 86% (620). More advanced stage and increasing risk of metastases correlated with mutation in codon position (609→620) near the juxtamembrane domain. Our data provide rigorous bases for timing of premorbid diagnosis and personalized treatment/prophylactic procedure decisions depending on specific RET exon 10 codons affected.


Asunto(s)
Exones , Mutación de Línea Germinal/genética , Neoplasia Endocrina Múltiple Tipo 2a/genética , Penetrancia , Proteínas Proto-Oncogénicas c-ret/genética , Proteínas Proto-Oncogénicas c-ret/metabolismo , Adolescente , Neoplasias de las Glándulas Suprarrenales/genética , Neoplasias de las Glándulas Suprarrenales/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Neuroendocrino , Niño , Preescolar , Codón/genética , Femenino , Humanos , Hiperparatiroidismo/genética , Hiperparatiroidismo/patología , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2a/patología , Estadificación de Neoplasias , Feocromocitoma/genética , Feocromocitoma/patología , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología , Adulto Joven
3.
Clin Endocrinol (Oxf) ; 75(6): 760-5, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21645025

RESUMEN

OBJECTIVE: Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impairment can result. Our aim was to describe the phenotypic variance of this rare disorder in a large series and to evaluate the outcome after long-term treatment. DESIGN: Nationwide retrospective collaborative study. PATIENTS: We describe 25 patients (14 men and 11 women), 20 belonging to 11 families and five single cases. MEASUREMENTS: Activating CaSR mutations and clinical and biochemical findings were evaluated. RESULTS: Nine different missense mutations of the CaSR, including one novel variant (M734T), were found. Twelve patients (50%) were symptomatic, 9 (36%) had basal ganglia calcifications and 3 (12%) had nephrocalcinosis. Serum calcium was decreased (1·87 ± 0·13 mm), and PTH was decreased (n = 19) or inappropriately low (n = 4). The occurrence of hypocalcaemic symptoms at diagnosis was related to the degree of hypocalcaemia. The occurrence of features like calcification of basal ganglia or kidney calcification did not correlate with the severity of hypocalcaemia or the age at diagnosis. The most common treatment was calcitriol (median dosage 0·6 µg/day), and the mean duration of therapy was 7·1 years (max. 26 years). Hypercalcaemic episodes rarely occurred, and the rate of kidney calcifications was remarkably low (12%). CONCLUSION: This series increases the limited knowledge of mutations and phenotypes of this rare disorder. Mutation analysis of the CaSR gene facilitates patient and family management. Low dosages of calcitriol resulted in less frequent renal calcifications.


Asunto(s)
Hipocalcemia/genética , Mutación , Receptores Sensibles al Calcio/genética , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Análisis Mutacional de ADN , Recolección de Datos , Femenino , Genes Dominantes , Alemania/epidemiología , Humanos , Hipocalcemia/epidemiología , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Mutación/fisiología , Fenotipo , Receptores Sensibles al Calcio/química , Estudios Retrospectivos , Adulto Joven
4.
Endocrine ; 71(3): 634-640, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33537957

RESUMEN

PURPOSE: European Patient Advocacy Groups (ePAGs) within the Endo-ERN identified a lack of knowledge about quality of care (QoC) of patients with multiple endocrine neoplasia (MEN). The aim of this study was to identify inequalities in care and to encourage improvements. METHODS: The European MEN Alliance (EMENA) developed and conducted a survey, using the European Commissions' EUSurvey platform. Patient groups and healthcare professionals (HCPs) distributed the survey. RESULTS: A total of 288 participants completed the survey (MEN1 n = 203, MEN2 n = 67, MEN3 n = 18) from 18 European countries. The majority of respondents were recruited via patient groups (58%), aged between 41 and 60 years (53%) and were female (67%). All participants reported having been diagnosed on average 5.58 years (95%-CI: 4.45-6.60) after first symptoms occurred. This timeframe was lower in the group with MEN2 (2.97 years, 95%-CI: 1.37-4.57). Most of the participants (67%) received their diagnosis by a positive gene test after presenting with one or more MEN-related tumours. Overall QoC was rated as either "good" (43%) or "excellent" (36%). CONCLUSION: The results of this unique Europe-wide, patient-driven survey on QoC of patients with MEN show that ratings for overall QoC were lower than ratings for different aspects of care. This may be because of the complex nature of care for genetic syndromes. Furthermore, patients who connect with patient groups may be deemed "expert patients" whose answers are not representative of the overall MEN patient community. We hope that Endo-ERN can support further education and training for HCPs based on these results.


Asunto(s)
Neoplasia Endocrina Múltiple , Adulto , Europa (Continente) , Femenino , Humanos , Masculino , Persona de Mediana Edad , Percepción , Calidad de la Atención de Salud , Grupos de Autoayuda , Encuestas y Cuestionarios
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