Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients

Rodrı́guez, José Manuel; Balsalobre, María; Ponce, José Luis; Rı́os, Antonio; Torregrosa, Nuria; Tebar, J. Cifuentes; Parrilla, Pascual

doi:10.1007/s00268-008-9734-2

Cited by 69 publications

(61 citation statements)

References 46 publications

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“…• Highest and high-risk mutations (ATA categories HST and H; classic MEN2B and classic MEN2A) carried comparable risks of pheochromocytoma in the order of 27-32.3% around the age of 26 and 35 years, respectively (Asari et al 2006, Rodriguez et al 2008, Machens et al 2013a. These pheochromocytomas involved both adrenals in 50-60%, two-thirds synchronously and one-third metachronously.…”

Section: Transformation Of the Adrenal Glandsmentioning

confidence: 99%

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Machens¹,

Dralle²

2018

Endocrine-Related Cancer

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Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands. The lead time provided by early identification of asymptomatic MEN2 carriers under biochemical surveillance delimits a 'window of opportunity', within which (i) pre-emptive total thyroidectomy alone is adequate, circumventing morbidity attendant to central node dissection; (ii) subtotal 'tissue-sparing' adrenalectomy is sufficient, trading the risk of steroid dependency for the risk of a second pheochromocytoma in the adrenal remnant and (iii) parathyroidectomy is limited to enlarged glands, trading the risk of postoperative hypoparathyroidism for the risk of leaving behind hyperactive parathyroid glands. Future research should delineate further the mutation-specific, age-dependent penetrance of pheochromocytoma and primary hyperparathyroidism to refine the risk-oriented approach to MEN2. The sweeping changes in the management of MEN2 since the new millenium hold the hope that death and major morbidity from this uncommon disease can be eliminated in our lifetime.

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Section: Transformation Of the Adrenal Glandsmentioning

confidence: 99%

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Machens¹,

Dralle²

2018

Endocrine-Related Cancer

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“…Approximately 30-50% of patients are asymptomatic or experience sudden hypertension in thyroid surgeries, and increased blood/urinary excretion of CA and its metabolites may be the only abnormality in the early stage of this disease (26,27). The diagnosis predominantly relies on biochemical and imaging data, and 2 patients in the present study exhibited elevated blood CA levels.…”

Section: Preoperative Postoperative ---------------------------------mentioning

confidence: 88%

Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A

Ying

Feng

2016

Molecular Medicine Reports

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Abstract. The clinical characteristics and RET proto-oncogene (RET-PO) mutation status of a patient with multiple endocrine neoplasia type 2A pedigree (MEN2A) was analyzed with the aim of preliminarily exploring the molecular mechanisms and clinical significance of the disease. Clinical characteristics of a single MEN2A patient were analyzed. Genomic DNA was extracted from the peripheral blood of the proband and 10 family members. The 21 exons of RET-PO were PCR amplified and the amplified products were sequenced. Of the family members, 5 exhibited a C634Y (TGC→TAC) missense mutation in exon 11 of RET-PO, among which 2 family members were screened as mutation carriers, while the others did not exhibit clinical symptoms of the mutation. The screening and analysis of RET-PO mutations for the MEN2A proband and the family members suggests potential clinical phenotypes and enables assessment of the risk of disease development, thus providing useful information for determining the surgical timing of preventive thyroid gland removal.

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“…An investigation of pheochromocytoma is mandatory in cases with suspected MEN 2 (72,74,140) (B/B/D) and is also indicated in individuals with apparently sporadic MTC that has not yet been subjected to RET molecular testing. Although the occurrence of pheochromocytoma is rather unlikely in these cases, its eventual identification before thyroid surgery is critical, as the complications that arise in undiagnosed cases are severe (72,74) …”

Section: Recommendationmentioning

confidence: 99%

Diagnóstico, tratamento e seguimento do carcinoma medular de tireoide: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Maia

Siqueira

Kulcsar

et al. 2014

Arq Bras Endocrinol Metab

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Introduction: Medullary thyroid carcinoma (MTC) originates in the thyroid parafollicular cells and represents 3-4% of the malignant neoplasms that affect this gland. Approximately 25% of these cases are hereditary due to activating mutations in the REarranged during Transfection (RET) proto-oncogene. The course of MTC is indolent, and survival rates depend on the tumor stage at diagnosis. The present article describes clinical evidence-based guidelines for the diagnosis, treatment, and follow-up of MTC. Objective: The aim of the consensus described herein, which was elaborated by Brazilian experts and sponsored by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism, was to discuss the diagnosis, treatment, and follow-up of individuals with MTC in accordance with the latest evidence reported in the literature. Materials and methods: After clinical questions were elaborated, the available literature was initially surveyed for evidence in the MedLine-PubMed database, followed by the Embase and Scientific Electronic Library Online/Latin American and Caribbean Health Science Literature (SciELO/Lilacs) databases. The strength of evidence was assessed according to the Oxford classification of evidence levels, which is based on study design, and the best evidence available for each question was selected. Results: Eleven questions corresponded to MTC diagnosis, 8 corresponded to its surgical treatment, and 13 corresponded to follow-up, for a total of 32 recommendations. The present article discusses the clinical and molecular diagnosis, initial surgical treatment, and postoperative management of MTC, as well as the therapeutic options for metastatic disease. Conclusions: MTC should be suspected in individuals who present with thyroid nodules and family histories of MTC, associations with pheochromocytoma and hyperparathyroidism, and/or typical phenotypic characteristics such as ganglioneuromatosis and Marfanoid habitus. Fine-needle nodule aspiration, serum calcitonin measurements, and anatomical-pathological examinations are useful for diagnostic confirmation. Surgery represents the only curative therapeutic strategy. The therapeutic options for metastatic disease remain limited and are restricted to disease control. Judicious postoperative assessments that focus on the identification of residual or recurrent disease are of paramount importance when defining the follow-up and later therapeutic management strategies. Arq Bras Endocrinol Metab. 2014;58(7):667-700

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Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients

Cited by 69 publications

References 46 publications

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A

Diagnóstico, tratamento e seguimento do carcinoma medular de tireoide: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

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