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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
- 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.
- Subjects :
- Cancer Research
medicine.medical_specialty
[SDV]Life Sciences [q-bio]
Endocrinology, Diabetes and Metabolism
Adrenal Gland Neoplasm
Adrenal Gland Neoplasms
Multiple Endocrine Neoplasia Type 2a
030209 endocrinology & metabolism
Pheochromocytoma
Bioinformatics
hyperparathyroidism
03 medical and health sciences
0302 clinical medicine
Endocrinology
Internal medicine
Adrenal insufficiency
medicine
Humans
MEN1
Multiple endocrine neoplasia
ComputingMilieux_MISCELLANEOUS
Hyperparathyroidism
Familial hypocalciuric hypercalcemia
business.industry
medicine.disease
Penetrance
3. Good health
[SDV] Life Sciences [q-bio]
Oncology
030220 oncology & carcinogenesis
Multiple Endocrine Neoplasias
business
Subjects
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