ECEESPE2025 Rapid Communications Rapid Communications 9: Endocrine Related Cancer (5 abstracts)
Hereditary duodenopancreatic neuroendocrine tumors, what genetic analysis? a retrospective analysis on 410 patients
Theo Charnay 1 , Camille Gianetti 2 , Nicolas Sahakian 3 , Magalie Haissaguerre 4 , Marie Puerto 4 , Patricia Niccoli 5 , Olivier Gilly 6 , Bénédicte Découdier 7 , Arnaud Lagarde 2 , Anne Barlier 1 & Pauline Romanet 8
1Aix Marseille Univ, APHM, MMG, La Timone University Hospital, Molecular Biology Department GEnOPé, Marseille, France; 2APHM, La Timone University Hospital, Molecular Biology Department GEnOPé, Marseille, France; 3Aix Marseille Univ, APHM, Inserm, MMG, MarMaRa, La Conception University Hospital, Department of Endocrinology, Marseille, France; 4Haut Leveque University Hospital, Department of Endocrinology, Bordeaux, France; 5Institut Paoli Calmette, Oncology Department, Marseille, France; 6Université Montpellier, Department of Metabolic and Endocrine Disease, CHU Nîmes, Nîmes, France; 7CHU of Reims, Department of Endocrinology, Hôpital Robert Debré, Reims, France; 8Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France
JOINT3173
Background: Duodenopancreatic Neuroendocrine Tumors (dpNETs) have an estimated prevalence of approximately 5 per 100,000, with less than 5% presenting as hereditary cases. Tumor growth is generally slow, but metastases can appear quickly. DpNETs can sometimes be the first symptom of syndromic diseases, diagnosed thanks to the identification of a pathogenic genetic variants. In France, the last recommendations of germinal genetic analysis in case of dpNETs focused only on MEN1 and VHL analysis in isolated and familial cases or in isolated dpNETs before 50 years except for gastrinomas.
Objectives: Objectives was to update the list of candidate genes and to estimate the prevalence of these newly identified genes in order to update the decision tree for genetic analyses in dpNETs.
Methods: We conducted a literature review of genes implicated in dpNETs. Once identified, we performed a retrospective analysis of genetic and clinical data of patients diagnosed with dpNETs and analyzed using the Endocrine Tumor library at the laboratory of molecular biology APHM between 2018 and 2024.
Results: The literature review identified 3 additional syndromic diseases including dpNETs : neurofibromatosis type 1 (NF1), multiple endocrine neoplasia type 4 (CDKN1B), and tuberous sclerosis (TSC1, and TSC2). We include 410 patients, 306 with isolated dpNET and 104 syndromic dpNETs. A total of 15 had familial of dpNETs and 395 were sporadic. All (likely) pathogenic variants ((L)PV) of MEN1, VHL, NF1, CDKN1B, TSC1 and TSC2 identified by NGS in the 410 patients were collected. Overall, 36 (L)PV were identified, including 27 in MEN1 (75%), 6 in NF1 (16,7%), 3 in VHL (8,3%), and none in CDKN1B and TSC1/2. A (L)PV was identified in 28.8% (30/104) of patients with syndromic dPNETs while in only 2% (6/306, 5 MEN1 and 1 NF1) of patients with isolated dpNETs. Among the 6 NF1 cases, 3 (50%) had pancreatic gastrinomas, and in one case, dpNET was the first manifestation of the disease. An earlier onset of dpNET was observed in VHL patients with a mean age of 23 years, compared to 44 years for MEN1 and NF1 patients.
Conclusion: In patients with dpPNET, not only MEN1 and VHL but also tuberous sclerosis, and NF1-related lesions should be assessed to identify syndromic genetic predisposition. In case of isolated and sporadic dpNET, mutation detection rate is very low (<2%); a better definition of the targeted population remains required to avoid an over genetic exploration.
Volume 110
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more