Multifocal Micronodular Pneumocyte Hyperplasia and Osteosclerotic Lesions in a Patient with Tuberous Sclerosis Complex Misdiagnosed with Lung Adenocarcinoma.
A 45-year-old woman presented with multiple ground-glass nodules (GGNs) in both lungs. Osteosclerotic changes were observed on a thoracoabdominal computed tomography scan. She underwent surgical resection of a single GGN and was diagnosed with lung adenocarcinoma with bone metastases; however, neither lung nor bone lesions progressed. Pathological reexamination of the biopsy confirmed multifocal micronodular pneumocyte hyperplasia (MMPH) diagnosis, and subsequent genetic analysis identified a nonsense mutation in the tuberous sclerosis complex (<i>TSC</i>) 1 gene. The case report presented here suggests a potential role for MMPH and osteosclerotic lesions in diagnosing TSC.
Authors
- Mutsuki ISHIMARU
- Hiroto Takiguchi (ORCID: https://orcid.org/0000-0001-9540-374X)
- Kazuhito Hatanaka (ORCID: https://orcid.org/0000-0002-9806-0612)
- Tsuyoshi Oguma (ORCID: https://orcid.org/0000-0001-5086-9407)
- Yo Niida (ORCID: https://orcid.org/0000-0001-5641-7962)
- Saya Miyahara
- Yoko Ito (ORCID: https://orcid.org/0000-0002-7791-1967)
- Koichiro Asano (ORCID: https://orcid.org/0000-0002-9044-3061)
- Naoki Hayama
Institutions
- Tokai University (JP)
Publication Details
- Journal
- PubMed
- Published
- 2025-07-20
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00