Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene

Hiroshi Maruyama, Kuniaki Seyama, Junko Sobajima, Kazumichi Kitamura, Tooru Sobajima, Tomokazu Fukuda, Kaoru Hamada, Masahiro Tsutsumi, Okio Hino, Yoichi Konishi

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Abstract

A 45-year-old woman with a long-standing diagnosis of tuberous sclerosis (TSC) is presented. She has multifocal micronodular pneumocyte hyperplasia (MMPH) and lymphangioleiomyomatosis (LAM) of the lung, together with the detection of TSC2 gene mutation. During surgery for spontaneous pneumothorax, an open-lung biopsy was performed. Micronodules were well defined, measuring approximately 4 mm in diameter. These MMPHs were histologically composed of papillary proliferation of Type II pneumocytes, with positive immunoreactivity of keratin and surfactant apoprotein. The cyst-like spaces, with dilatation and destruction of air spaces, were diffusely formed, and the walls were composed of the spindle cells. Such LAM showed positive immunoreactivity for HMB-45 (a monoclonal antibody specific for human melanoma) and tuberin (the gene product of TSC2). On germline mutation analysis using leukocytes of the present patient, a TSC2 gene mutation was confirmed as a deletion of G (or g) on Exon 9 by polymerase chain reaction-single-strand conformational polymorphism. However, no mutation was detected in her son. With microdissection analysis using paraffin-embedding lung tissues, LOH of the TSC2 gene preliminarily was detected in a LAM lesion but not in MMPH. It is suggested that MMPH, in addition to LAM, could be another pulmonary lesion in TSC patients and that the detection of TSC2 and/or TSC1 gene could essentially be useful for the pathogenesis of MMPH and LAM in TSC patients.

Original languageEnglish
Pages (from-to)609-614
Number of pages6
JournalModern Pathology
Volume14
Issue number6
DOIs
Publication statusPublished - 2001 Jul 3

Keywords

  • Loss of heterozygosity (LOH)
  • Lymphangioleiomyomatosis (LAM)
  • Multifocal micronodular pneumocyte hyperplasia (MMPH)
  • PCR-SSCP
  • TSC2 gene
  • Tuberin
  • Tuberous sclerosis (TSC)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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  • Cite this

    Maruyama, H., Seyama, K., Sobajima, J., Kitamura, K., Sobajima, T., Fukuda, T., Hamada, K., Tsutsumi, M., Hino, O., & Konishi, Y. (2001). Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene. Modern Pathology, 14(6), 609-614. https://doi.org/10.1038/modpathol.3880359