Title :

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Author(s) :

Chevalier, Benjamin [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Dupuis, Hippolyte [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Jannin, Arnaud [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Lemaitre, Madleen [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Do Cao, Christine [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Cardot-Bauters, Catherine [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Stephanie, Espiard [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université Lille Nord (France)
Recherche translationnelle sur le diabète - U 1190 [RTD]
Vantyghem, Marie-Christine [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Recherche translationnelle sur le diabète (RTD) - U1190

Journal title :

Frontiers in Endocrinology

Abbreviated title :

Front. Endocrinol.

Volume number :

12

Publication date :

2021-05-06

ISSN :

1664-2392

English keyword(s) :

neurofibromatosis type 1
von Hippel-Lindau
Cowden syndrome
tuberous sclerosis complex
pheochromocytoma
paraganglioma
digestive neuroendocrine tumors

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to ...
Show more >Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Recherche translationnelle sur le diabète (RTD) - U1190

Submission date :

2024-01-19T22:58:59Z
2024-09-25T12:26:30Z