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.

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PubMed
Published
2025-07-20
Primary Topic
Tuberous Sclerosis Complex Research
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article
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article

Multifocal Micronodular Pneumocyte Hyperplasia and Osteosclerotic Lesions in a Patient with Tuberous Sclerosis Complex Misdiagnosed with Lung Adenocarcinoma.

Mutsuki ISHIMARU, Hiroto Takiguchi, Kazuhito Hatanaka, Tsuyoshi Oguma et al.
PubMed
Tuberous Sclerosis Complex Research
article

Multifocal Micronodular Pneumocyte Hyperplasia and Osteosclerotic Lesions in a Patient with Tuberous Sclerosis Complex Misdiagnosed with Lung Adenocarcinoma.

Mutsuki ISHIMARU, Hiroto Takiguchi, Kazuhito Hatanaka, Tsuyoshi Oguma, Yo Niida, Saya Miyahara, Yoko Ito, Koichiro Asano, Naoki Hayama
article en

Abstract

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.

PubMedVol. 50(2)
Tokai University (JP)
Good health and well-being
Openalex Percentile: Top 81%
Tuberous Sclerosis Complex Research
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