Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'étude des Tumeurs Endocrines database

Gatta-Chérifi, Blandine; Chabre, Olivier; Murat, A.; Niccoli, Patricia; Cardot-Bauters, C.; Rohmer, V.; Young, Jacques; Delemer, Brigitte; Boullay, Hélène Du; Verger, M. F.; Kuhn, Jean-Marc; Sadoul, Jean‐Louis; Ruszniewski, Philippe; Beckers, Albert; Monsaingeon, M.; Baudin, Éric; Goudet, P.; Tabarin, Antoine

doi:10.1530/eje-11-0679

Cited by 180 publications

(132 citation statements)

References 42 publications

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“…Adrenal lesions have been described and vary: either bilateral or unilateral, including adrenal enlargement, adenomas, macronodular adrenal hyperplasia and adrenal cancer. The frequency of adrenal lesions range between 9 and 73% depending on the screening methods used (34). …”

Section: Multiple Tumors Syndromes Associated With Pbmahmentioning

confidence: 99%

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat

Espiard

Bertherat

2015

European Journal of Endocrinology

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Long-term consequences of cortisol excess are frequent despite appropriate treatment after cure of Cushing's syndrome. This might be due to diagnostic delay, often difficult to reduce in rare diseases. The identification of a genetic predisposing factor might help to improve early diagnosis by familial screening. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing's syndrome. Hypercortisolism in PBMAH is most often diagnosed between the fifth and sixth decades of life. The bilateral nature of the adrenocortical tumors and the occurrence of rare clear familial forms suggest a genetic origin. Indeed, a limited subset of PBMAH can be observed as part of multiple tumors syndromes due to alterations of the APC, Menin or Fumarate Hydratase genes. Rare variants of the phosphodiesterases PDE11A have been associated with PBMAH. The recent identification of ARMC5 germline alterations in 25-50% of PBMAH patients without obvious familial history or associated tumors opens new perspectives. ARMC5 alterations follow the model of a tumor suppressor gene: a first germline inactivating mutation of this 16p located gene is followed by a somatic secondary hit on the other allele (inactivating mutation or allelic loss). Functional studies demonstrate that ARMC5 controls apoptosis and steroid synthesis. The phenotype of index cases patients with the mutation seems more severe than the one of WT index cases. However, phenotype variability within a family is often observed. This review summarizes the genetics of PBMAH, focusing on ARMC5, which offer new perspectives for early diagnosis of Cushing's syndrome.

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Section: Multiple Tumors Syndromes Associated With Pbmahmentioning

confidence: 99%

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat

Espiard

Bertherat

2015

European Journal of Endocrinology

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“…The collection of clinical, biochemical, and genetic characteristics of unselected patients with rare disorders, such as MEN1, in multicentre-nationwide registries or databases, is a useful approach to increase knowledge of epidemiological aspects of the disease and the natural course and prognosis of single manifestations of the syndrome [16][17][18][19][20].…”

Section: Introductionmentioning

confidence: 99%

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

et al. 2017

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Objective The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Methods Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011)(2012)(2013)

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“…As for adrenal involvement in patients with MEN1, the data are contradictory with a prevalence ranging from 9 to 73% depending on the investigated series 16– 18 . A recent large study in 715 MEN1 patients showed adrenal lesions in 146 cases, and among them 72 had adrenal adenomas, comprising 10% of the whole cohort 5 . Four cases of PA were found in the whole group.…”

Section: Discussionmentioning

confidence: 99%

“…These cases were attributed mainly to multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominantly inherited condition, characterized by the association of tumors of the pituitary and the parathyroid glands, the endocrine pancreas, the adrenal glands and neuroendocrine tumors 4 . Aldosterone-producing adenomas have been described in various combinations, mainly with hyperparathyroidism, prolactinomas and pancreatic endocrine tumors, but none of these have been associated with acromegaly 2, 3, 5 .…”

Section: Introductionmentioning

confidence: 99%

Case Report: A case report of acromegaly associated with primary aldosteronism

2014

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We describe a patient with a rare combination of acromegaly and primary aldosteronism. A 37 year-old female patient was diagnosed with acromegaly on the basis of typical clinical, hormonal and image characteristics. She presented also with one of the most common co-morbidities – arterial hypertension. The patient has been regularly followed-up and after three surgical interventions, irradiation and adjuvant treatment with a dopamine agonist, acromegaly was finally controlled in 2008 (20 years after diagnosis). Arterial hypertension however, remained a therapeutic problem even after prescription of four antihypertensive drugs. She had normal biochemical parameters, except for low potassium levels 3.2 (3.5-5.6) mmol/l. This raised the suspicion of primary hyperaldosteronism, confirmed by a high aldosterone to plasma rennin activity ratio, high aldosterone level after a Captopril challenge test and visualization of a 35 mm left adrenal nodule on a CT scan. After an operation, the patient recovered from hypokalemia and antihypertensive therapy was reduced to a small dose of a Ca blocker.Co-morbid arterial hypertension is common in acromegaly, though it is rare for this to be caused by Conn’s adenoma. The association of Conn’s adenoma with acromegaly has been interpreted in two lines: as a component of multiple endocrine neoplasia type (MEN1) syndrome or as a direct mitogenic effect of hyperactivated GH-IGF1 axis.

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Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'étude des Tumeurs Endocrines database

Cited by 180 publications

References 42 publications

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Case Report: A case report of acromegaly associated with primary aldosteronism

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