A rare cause of diffuse alveolar hemorrhage in a pediatric patient: thigh localization of INI1-deficient epithelioid sarcoma
This case highlights the diagnostic challenges of INI1-deficient ES presenting with DAH and underscores the importance of considering malignancy in pediatric patients with atypical DAH. Multidisciplinary approaches, including advanced imaging and molecular diagnostics, are crucial for accurate diagnosis and management.
Authors
- Xingfeng Yao (ORCID: https://orcid.org/0009-0000-9016-5084)
- Zhipeng Zhao (ORCID: https://orcid.org/0000-0003-2128-0964)
- Chunju Zhou (ORCID: https://orcid.org/0009-0000-7196-5051)
- Haiming Yang
- Shuai Gong (ORCID: https://orcid.org/0000-0002-0743-806X)
- Xiaolei Tang (ORCID: https://orcid.org/0000-0002-4381-2872)
Institutions
- Capital Medical University (CN)
- People's Hospital of Xinjiang Uygur Autonomous Region (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-19
- DOI
- https://doi.org/10.1186/s13023-025-03956-1
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Xinjiang Province
- National Natural Science Foundation of China