Ishimaru Masami, Takiguchi Hiroto, Miyahara Saya, Hatanaka Kazuhito, Niida Yo, Hayama Naoki, Ito Yoko, Oguma Tsuyoshi, Asano Koichiro
Division of Pulmonary Medicine, Department of Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.
Tokai J Exp Clin Med. 2025 Jul 20;50(2):51-54.
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 () 1 gene. The case report presented here suggests a potential role for MMPH and osteosclerotic lesions in diagnosing TSC.
一名45岁女性双肺出现多个磨玻璃结节（GGN）。胸腹计算机断层扫描显示有骨硬化改变。她接受了单个GGN的手术切除，被诊断为肺腺癌伴骨转移；然而，肺部和骨部病变均未进展。活检的病理复查证实为多灶性微小结节性肺细胞增生（MMPH）诊断，随后的基因分析确定结节性硬化复合体（TSC）1基因存在无义突变。本文呈现的病例报告提示MMPH和骨硬化性病变在诊断TSC中可能发挥的作用。
