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Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

Authors :
Thierry Brue
Frederic Sebag
Pauline Romanet
David Taïeb
Carole Guerin
Anne Barlier
André Lacroix
Frederic Castinetti
Barlier, Anne
Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)
Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M)
Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Centre d'Études Biologiques de Chizé - UMR 7372 (CEBC)
Institut National de la Recherche Agronomique (INRA)-La Rochelle Université (ULR)-Centre National de la Recherche Scientifique (CNRS)
Service de chirurgie générale et endocrinienne
Hôpital de la Timone [CHU - APHM] (TIMONE)
Systèmes d'élevage, nutrition animale et humaine (SENAH)
Institut National de la Recherche Agronomique (INRA)-AGROCAMPUS OUEST
Centre d'études biologiques de Chizé (CEBC)
Centre National de la Recherche Scientifique (CNRS)
AGROCAMPUS OUEST-Institut National de la Recherche Agronomique (INRA)
Source :
Endocrine-Related Cancer, Endocrine-Related Cancer, 2018, 25 (2), pp.T15-T28. ⟨10.1530/ERC-17-0266⟩, Endocrine-Related Cancer, BioScientifica, 2018, 25 (2), pp.T15-T28. ⟨10.1530/ERC-17-0266⟩
Publication Year :
2018
Publisher :
Bioscientifica, 2018.

Abstract

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis depend on the mutation ofRET. Given the prevalence of bilateral PHEO (50% by age 50), adrenal sparing surgery, aimed at sparing a part of the adrenal cortex to avoid adrenal insufficiency, should be systematically considered in patients with bilateral PHEO. Non-MEN2 familial forms of PHEO now include more than 20 genes: however, only small phenotypic series have been reported, suggesting that phenotypic features of isolated hereditary PHEO must be better explored, and follow-up series are needed to better understand the outcome of patients carrying mutations of these genes. The first part of this review will mainly focus on these points. In the second part, a focus will be given on MEN2 and non-MEN2 familial forms of hyperparathyroidism (HPTH). Again, the management of MEN2 HPTH should be aimed at curing the disease while preserving an optimal quality of life by a tailored parathyroidectomy. The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia.

Details

ISSN :
14796821 and 13510088
Volume :
25
Database :
OpenAIRE
Journal :
Endocrine-Related Cancer
Accession number :
edsair.doi.dedup.....75aa9d6833149e96e190cdcfc8143664
Full Text :
https://doi.org/10.1530/erc-17-0266