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Peer-reviewedCC BYJournal of neuroendocrinology

Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors.

  • Théo Charnay1
  • Camille Giannetti2
  • Nicolas Sahakian3
  • Magalie Haissaguerre4
  • Sandrine Oziel-Taieb5
  • Veronique Mari6
  • Olivier Gilly7
  • Pauline Vital8
  • Isabelle Raingeard9
  • Bénédicte Découdier10
  • Alexandre Astier11
  • Thomas Cuny3,12
2 more authors
  • Pauline Romanet1
  • Anne Barlier1
12 affiliations
  1. 1Aix Marseille Univ, APHM, INSERM, MMG, MarMaRa Institute, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France.
  2. 2APHM, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Marseille, France.
  3. 3Aix Marseille Univ, APHM, Inserm, MMG, MarMaRa Institute, La Conception University Hospital, Department of Endocrinology, Marseille, France.
  4. 4Haut Leveque University Hospital, Department of Endocrinology, Bordeaux, France.
  5. 5Institut Paoli Calmettes, Medical Oncology Department, IPCNET Center, ENETS Center of Excellence, Marseille, France.
  6. 6Oncogenetique Department Institut Antoine Lacassagne, Nice, France.
  7. 7Service des Maladies Métaboliques et Endocriniennes CHU Nîmes, Nîmes, France.
  8. 8Endocrinology Department CHU de Limoges, Limoges, France.
  9. 9CHRU de Montpellier, Service d'Endocrinologie, Diabète, Maladies Métaboliques, Montpellier, France.
  10. 10CHU of Reims, Department of Endocrinology, Hôpital Robert Debré, Reims, France.
  11. 11Aix Marseille Univ, APHM, CNRS, INP, CHU Timone, Oncobiology Laboratory, Marseille, France.
  12. 12Clinical Investigation Center U1409, APHM, Marseille, France.
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Abstract

The incidence of duodenal and pancreatic neuroendocrine tumors (dpNETs) has increased substantially in recent years. These tumors may be due to syndromic hereditary predisposition syndromes: multiple endocrine neoplasia type 1 (MEN1) or 4 (MEN4), Von Hippel-Lindau disease (VHL), neurofibromatosis type 1 (NF1), or tuberous sclerosis complex (TSC). Because a dpNET may be the first MEN1 sign, recent guidelines recommend MEN1 genetic testing in selected patients with an isolated dpNET. Whether similar genetic testing strategies should be extended to other hereditary syndromes remains unknown. We conducted a retrospective analysis of the genetic and clinical data of patients who underwent genetic testing for isolated or syndromic dpNETs. We assessed the presence of (likely) pathogenic variants ((L)PVs) in MEN1, NF1, VHL, CDKN1B, TSC1, and TSC2. 410 patients were included: 301 with isolated (=non syndromic) dpNETs and 109 with syndromic dpNETs. Among them, 38 carried a (L)PV, most frequently in MEN1 (n = 27 patients), followed by NF1 (n = 8) and VHL (n = 3). No TSC1, TSC2, or CDKN1B (L)PVs were found. Patients with syndromic dpNETs exhibited significantly higher positive rates (29.4%) compared to isolated dpNETs (<2%). We confirm that MEN1 is the predominant gene underlying predisposition to dpNETs. The low diagnostic yield in isolated dpNETs supports a clinically stratified genetic testing strategy. Clinical evaluation should systematically assess for signs of MEN1, MEN4, VHL, NF1, or TSC to inform appropriate genetic testing and maximize diagnostic yield. Concerning MEN1, we propose limiting extended genetic testing in patients with isolated dpNETs to those with (i) gastrinoma, (ii) multiple dpNETs, or (iii) diagnosis before 40 years of age.

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Cite

BibTeXRIS
BibTeX
@article{charnay2026genetic,
  title = {{Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors.}},
  author = {Théo Charnay and Camille Giannetti and Nicolas Sahakian and Magalie Haissaguerre and Sandrine Oziel-Taieb and Veronique Mari and Olivier Gilly and Pauline Vital and Isabelle Raingeard and Bénédicte Découdier and Alexandre Astier and Thomas Cuny and Pauline Romanet and Anne Barlier},
  journal = {Journal of neuroendocrinology},
  year = {2026},
  month = nov,
  doi = {10.1111/jne.70305},
  url = {https://europepmc.org/article/MED/42971718},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors.
AU  - Théo Charnay
AU  - Camille Giannetti
AU  - Nicolas Sahakian
AU  - Magalie Haissaguerre
AU  - Sandrine Oziel-Taieb
AU  - Veronique Mari
AU  - Olivier Gilly
AU  - Pauline Vital
AU  - Isabelle Raingeard
AU  - Bénédicte Découdier
AU  - Alexandre Astier
AU  - Thomas Cuny
AU  - Pauline Romanet
AU  - Anne Barlier
PY  - 2026
DA  - 2026/11/01
JO  - Journal of neuroendocrinology
DO  - 10.1111/jne.70305
UR  - https://europepmc.org/article/MED/42971718
AB  - The incidence of duodenal and pancreatic neuroendocrine tumors (dpNETs) has increased substantially in recent years. These tumors may be due to syndromic hereditary predisposition syndromes: multiple endocrine neoplasia type 1 (MEN1) or 4 (MEN4), Von Hippel-Lindau disease (VHL), neurofibromatosis type 1 (NF1), or tuberous sclerosis complex (TSC). Because a dpNET may be the first MEN1 sign, recent guidelines recommend MEN1 genetic testing in selected patients with an isolated dpNET. Whether similar genetic testing strategies should be extended to other hereditary syndromes remains unknown. We conducted a retrospective analysis of the genetic and clinical data of patients who underwent genetic testing for isolated or syndromic dpNETs. We assessed the presence of (likely) pathogenic variants ((L)PVs) in MEN1, NF1, VHL, CDKN1B, TSC1, and TSC2. 410 patients were included: 301 with isolated (=non syndromic) dpNETs and 109 with syndromic dpNETs. Among them, 38 carried a (L)PV, most frequently in MEN1 (n = 27 patients), followed by NF1 (n = 8) and VHL (n = 3). No TSC1, TSC2, or CDKN1B (L)PVs were found. Patients with syndromic dpNETs exhibited significantly higher positive rates (29.4%) compared to isolated dpNETs (<2%). We confirm that MEN1 is the predominant gene underlying predisposition to dpNETs. The low diagnostic yield in isolated dpNETs supports a clinically stratified genetic testing strategy. Clinical evaluation should systematically assess for signs of MEN1, MEN4, VHL, NF1, or TSC to inform appropriate genetic testing and maximize diagnostic yield. Concerning MEN1, we propose limiting extended genetic testing in patients with isolated dpNETs to those with (i) gastrinoma, (ii) multiple dpNETs, or (iii) diagnosis before 40 years of age.
SN  - 0953-8194
SN  - 1365-2826
ER  -