{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Aix Marseille Univ, APHM, INSERM, MMG, MarMaRa Institute, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France.",
    "APHM, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Marseille, France.",
    "Aix Marseille Univ, APHM, Inserm, MMG, MarMaRa Institute, La Conception University Hospital, Department of Endocrinology, Marseille, France.",
    "Haut Leveque University Hospital, Department of Endocrinology, Bordeaux, France.",
    "Institut Paoli Calmettes, Medical Oncology Department, IPCNET Center, ENETS Center of Excellence, Marseille, France.",
    "Oncogenetique Department Institut Antoine Lacassagne, Nice, France.",
    "Service des Maladies Métaboliques et Endocriniennes CHU Nîmes, Nîmes, France.",
    "Endocrinology Department CHU de Limoges, Limoges, France.",
    "CHRU de Montpellier, Service d'Endocrinologie, Diabète, Maladies Métaboliques, Montpellier, France.",
    "CHU of Reims, Department of Endocrinology, Hôpital Robert Debré, Reims, France.",
    "Aix Marseille Univ, APHM, CNRS, INP, CHU Timone, Oncobiology Laboratory, Marseille, France.",
    "Clinical Investigation Center U1409, APHM, Marseille, France."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 14,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Théo Charnay",
      "orcid": "0000-0002-2390-3865"
    },
    {
      "affs": [
        1
      ],
      "name": "Camille Giannetti"
    },
    {
      "affs": [
        2
      ],
      "name": "Nicolas Sahakian"
    },
    {
      "affs": [
        3
      ],
      "name": "Magalie Haissaguerre"
    },
    {
      "affs": [
        4
      ],
      "name": "Sandrine Oziel-Taieb",
      "orcid": "0000-0003-0075-3240"
    },
    {
      "affs": [
        5
      ],
      "name": "Veronique Mari",
      "orcid": "0009-0007-4372-1798"
    },
    {
      "affs": [
        6
      ],
      "name": "Olivier Gilly",
      "orcid": "0009-0004-4063-0901"
    },
    {
      "affs": [
        7
      ],
      "name": "Pauline Vital"
    },
    {
      "affs": [
        8
      ],
      "name": "Isabelle Raingeard",
      "orcid": "0000-0003-0854-8639"
    },
    {
      "affs": [
        9
      ],
      "name": "Bénédicte Découdier"
    },
    {
      "affs": [
        10
      ],
      "name": "Alexandre Astier",
      "orcid": "0009-0005-0791-1143"
    },
    {
      "affs": [
        2,
        11
      ],
      "name": "Thomas Cuny",
      "orcid": "0000-0002-8440-0030"
    },
    {
      "affs": [
        0
      ],
      "name": "Pauline Romanet",
      "orcid": "0000-0003-1775-9569"
    },
    {
      "affs": [
        0
      ],
      "name": "Anne Barlier",
      "orcid": "0000-0002-3740-6173"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bceb52ccgawej.bib",
  "cited_by": 0,
  "doi": "10.1111/jne.70305",
  "fulltext_url": "https://europepmc.org/articles/PMC13727499",
  "id": "bceb52ccgawej",
  "issns": [
    "0953-8194",
    "1365-2826"
  ],
  "landing_url": "https://europepmc.org/article/MED/42971718",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2713|Neuroendocrine Tumor Research Advances"
    ]
  ],
  "openalex": "W7225114639",
  "pdf_url": "https://europepmc.org/articles/PMC13727499?pdf=render",
  "pmcid": "PMC13727499",
  "pmid": "42971718",
  "published": "2026-11-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/bceb52ccgawej.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:44Z",
      "native_id": "MED:42971718",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42971718"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2713|Neuroendocrine Tumor Research Advances",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors.",
  "title_text": "Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T03:20:55Z",
  "url": "https://research.draconitic.com/paper/bceb52ccgawej",
  "venue": "Journal of neuroendocrinology",
  "versions": []
}