{
  "abstract": "Background: Gorham-Stout disease (GSD) is an ultra-rare disorder of progressive osteolysis and lymphatic proliferation, with poorly defined clinical features, optimal imaging and treatment. This study characterises the clinical spectrum, imaging findings and therapeutic responses in a single-centre GSD cohort.\n\nMethods: We retrospectively analysed seven patients with GSD at the National Center for Respiratory Medicine (2019–2024). Data included demographics, clinical presentation, laboratory, pathology, multimodality imaging (CT, bone scintigraphy, 18F-fluorodeoxyglucose (18F-FDG) and 18F-fibroblast activation protein inhibitor (18F-FAPI) positron emission tomography (PET)/CT, lymphoscintigraphy) and follow-up.\n\nResults: Patients (six males, one female; median age 27 years) commonly presented with dyspnoea (5/7) and universal pleural effusion (7/7, including four chylothoraces). Extensive osteolysis (ribs, spine, pelvis) occurred without significant bone pain in most cases. 18F-FAPI PET/CT showed intense uptake (maximum standardised uptake value (SUVmax) 4.0–17.6) in lesions, superior to 18F-FDG PET/CT (SUVmax<2.5 in 6/7). Lymphoscintigraphy confirmed central lymphatic leakage in all tested patients. Histopathology revealed D2-40-positive lymphatic proliferation. Individualised treatment included sirolimus (one patient, clinical and radiological improvement), alendronate (one patient, stable disease) and supportive care (five patients, symptomatic improvement over a 15-month median follow-up).\n\nConclusions: GSD often presents with chylothorax and respiratory symptoms rather than bone pain. 18F-FAPI PET/CT is superior to FDG for assessing activity and monitoring response. Whether mammalian target of rapamycin inhibition or antiresorptive therapy improves outcomes cannot be determined from this small series; our single-patient observations with sirolimus and alendronate are hypothesis-generating only. Multidisciplinary, individualised management with advanced imaging is essential.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Allergy and Clinical Immunology, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China",
    "The Sixth School of Clinical Medicine, the Affiliated Qingyuan Hospital (Qingyuan People’s Hospital), Guangzhou Medical University, Guangzhou, Guangdong, China",
    "The Sixth Clinical School, The Sixth School of Clinical Medicine, the Affiliated Qingyuan Hospital (Qingyuan People’s Hospital), Guangzhou Medical University, Guangzhou, Guangdong, China",
    "Pulmonary and Critical Care Medicine, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China",
    "Department of Nuclear Medicine, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China",
    "Department of Thoracic Surgery, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
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        0
      ],
      "name": "Naijian Li"
    },
    {
      "affs": [
        1
      ],
      "name": "Xiang Le"
    },
    {
      "affs": [
        2
      ],
      "name": "Dawei Xu"
    },
    {
      "affs": [
        3
      ],
      "name": "Yunxiang Zeng"
    },
    {
      "affs": [
        4
      ],
      "name": "Xinlu Wang"
    },
    {
      "affs": [
        3
      ],
      "name": "Jinlin Wang",
      "orcid": "0000-0003-0525-6649"
    },
    {
      "affs": [
        5
      ],
      "name": "Zhexue Hao"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9j6w4c6cckmr9.bib",
  "cited_by": 0,
  "doi": "10.1136/bmjresp-2026-004545",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13711616/",
  "id": "9j6w4c6cckmr9",
  "issns": [
    "2052-4439"
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  "landing_url": "https://doi.org/10.1136/bmjresp-2026-004545",
  "language": "en",
  "licence": "CC-BY-NC-4.0",
  "licence_label": "CC BY-NC 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
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  "native_subjects": [
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      "heading",
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    [
      "heading",
      "Original Research"
    ],
    [
      "heading",
      "Orphan Lung Disease"
    ],
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      "2745|Bone Tumor Diagnosis and Treatments"
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  "pdf_url": "https://bmjopenrespres.bmj.com/content/13/1/e004545.full.pdf",
  "pmcid": "PMC13711616",
  "pmid": "42933816",
  "published": "2026-10-26",
  "publisher": "BMJ Publishing Group",
  "ris": "https://research.draconitic.com/paper/9j6w4c6cckmr9.ris",
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    {
      "first_seen": "2026-10-31T12:22:21Z",
      "native_id": "PMC13711616",
      "source": "pmc",
      "url": "https://doi.org/10.1136/bmjresp-2026-004545"
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  "title": "Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease",
  "title_text": "Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:22:21Z",
  "url": "https://research.draconitic.com/paper/9j6w4c6cckmr9",
  "venue": "BMJ Open Respiratory Research",
  "versions": []
}