Title :

Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1

Author(s) :

Dupuis, Hippolyte [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Chevalier, Benjamin [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Hôpital Claude Huriez [Lille]
Université de Lille
Cardot-Bauters, Catherine [Auteur]
Jannin, Arnaud [Auteur]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Université de Lille
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Do Cao, Christine [Auteur]
Ladsous, Miriam [Auteur]
Cortet, Christine [Auteur]
Merlen, Emilie [Auteur]
Drouard, Magali [Auteur]
Aubert, Sebastien [Auteur]
Service de pathologie [CHU Lille]
Vidaud, Dominique [Auteur]
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 :

Journal of the Endocrine Society

Abbreviated title :

J Endocr Soc

Volume number :

7

Pages :

bvad083

Publisher :

Oxford University Press

Publication date :

2023-06-17

ISSN :

2472-1972

English keyword(s) :

type 1 neurofibromatosis
pheochromocytoma
gastroenteropancreatic neuroendocrine tumor

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Context In patients with neurofibromatosis type 1 (NF1), guidelines suggest screening for pheochromocytoma by metanephrine measurement and abdominal imaging, which may lead to the discovery of gastroenteropancreatic ...
Show more >Context In patients with neurofibromatosis type 1 (NF1), guidelines suggest screening for pheochromocytoma by metanephrine measurement and abdominal imaging, which may lead to the discovery of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) and their differential diagnosis, gastrointestinal stromal tumors (GISTs). Other endocrine manifestations such as follicular thyroid carcinoma and primary hyperparathyroidism have also been reported in a few cases. Objective This study aimed to describe prevalence and clinical presentation of these manifestations through systematic screening in a large cohort of patients. Methods In this monocentric retrospective study, 108 patients with NF1 were included and screened for endocrine manifestations and GISTs. Clinical, laboratory, molecular profile, pathology, and morphologic (abdominal computed tomography scan and/or magnetic resonance imaging) and functional imaging were collected. Results Twenty-four patients (22.2% of the cohort, 16 female, mean age 42.6 years) presented with pheochromocytomas that were unilateral in 65.5%, benign in 89.7%, and with a ganglioneural component in 20.7%. Three female patients (2.8% of the cohort, aged 42-63 years) presented with well-differentiated GEP-NETs, and 4 (3.7%) with GISTs. One patient had primary hyperparathyroidism, 1 patient had medullary microcarcinoma, and 16 patients had goiter, multinodular in 10 cases. There was no correlation between pheochromocytoma and other NF1 tumoral manifestations, nor correlations between pheochromocytoma and NF1 genotype, despite a familial clustering in one-third of patients. Conclusion The pheochromocytoma prevalence in this NF1 cohort was higher (>20%) than previously described, confirming the interest of systematic screening, especially in young women. The prevalence of GEP-NETs and GISTs was about 3%, respectively. No phenotype–genotype correlation was observed.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Recherche translationnelle sur le diabète (RTD) - U1190

Submission date :

2024-01-19T22:19:43Z
2024-09-19T13:57:24Z