ArticleAmerican journal of human genetics1998
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers, 2 of them syntheses that pooled it.
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Who cites it
115 citing papers in PubMed, 2 syntheses or guidelines pooled it, 317 citations in OpenAlex.
- A Systematic Review of Lymphangioleiomyomatosis on Diagnosis and Molecular Mechanism.BioMed research international · 2021Pooled it
- Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management.American journal of respiratory and critical care medicine · 2016Guideline
- Trial
- Trial
- LAMCAK pilot study: urinary cathepsin K as a potential biomarker in lymphangioleiomyomatosis.ERJ open research · 2026Article
- Six-minute walk distance predicting the risk of mortality in lymphangioleiomyomatosis patients.Orphanet journal of rare diseases · 2026Article
- The role and mechanism of TSC in kidney diseases: a literature review.BMC nephrology · 2025Review
- Review
- Increased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort.Orphanet journal of rare diseases · 2025Article
- Activation of mTOR signaling in adult lung microvascular progenitor cells accelerates lung aging.The Journal of clinical investigation · 2023Article
- Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet.Endocrine-related cancer · 2023Review
- Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings.JID innovations : skin science from molecules to population health · 2023Article
- Lymphangioleiomyomatosis (LAM) Cell Atlas.Thorax · 2023Article
- Computer grading of lung disease severity in patients with lymphangioleiomyomatosis referred for transplantation.BMC pulmonary medicine · 2022Article
- Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.BMC pulmonary medicine · 2022Article
- Review
- Article
- Expanding the spectrum of mesenchymal neoplasms with NR1D1-rearrangement.Genes, chromosomes & cancer · 2022Article
- Angiomyolipoma of the kidney-Clinicopathological analysis of 52 cases.Pathology oncology research : POR · 2022Article
- Efficacy of Sirolimus Treatment in PEComa-10 Years of Practice Perspective.Journal of clinical medicine · 2021Article
55 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Lung transplantation is the only consistently effective therapy for LAM. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other disease (referred to as "sporadic LAM") or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental retardation, and tumors in the brain, heart, skin, and kidney. Renal angiomyolipomas occur in approximately 50% of sporadic LAM patients and in 70% of TSC patients. Loss of heterozygosity (LOH) in the chromosomal region for the TSC2 gene occurs in 60% of TSC-associated angiomyolipomas. Because of the similar pulmonary and renal manifestations of TSC and sporadic LAM, we hypothesized that LAM and TSC have a common genetic basis. We analyzed renal angiomyolipomas, from 13 women with sporadic LAM, for LOH in the regions of the TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. We also found TSC2 LOH in four lymph nodes from a woman with retroperitoneal LAM. No TSC1 LOH was found. Our findings indicate that the TSC2 gene may be involved in the pathogenesis of sporadic LAM. However, genetic transmission of LAM has not been reported. Women with LAM may have low-penetrance germ-line TSC2 mutations, or they may be mosaic, with TSC2 mutations in the lung and the kidney but not in other organs.
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