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- Title
Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
- Authors
Huang, Jiannan; Xu, Wenshuai; Liu, Peng; Liu, Yaping; Shen, Cheng; Liu, Song; Wang, Yani; Wang, Jun; Zhang, Tengyue; He, Yudi; Cheng, Chongsheng; Yang, Luning; Zhang, Weihong; Tian, Xinlun; Xu, Kai-Feng
- Abstract
<bold>Background: </bold>Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2. This study serves to elucidate the mutation landscape and potential correlation between S-LAM genomic profiles and clinical phenotypes.<bold>Methods: </bold>Genomic profiles of 22 S-LAM patients were obtained by sequencing genomic DNA and cell-free DNA from various specimens using an NGS (next-generation sequencing)-based tumor-driver gene panel. Detected mutations were summarized. Symptoms, serum vascular endothelial growth factor D (VEGF-D) values, pulmonary function, and six-minute walk distance (6MWD) were compared among groups with different TSC2 status and genotypes to analyze genotype-phenotype correlations.<bold>Results: </bold>67 Variants in 43 genes were detected, with a TSC2 mutation detection rate of 68.2%. The TSC2 detection rate was similar in specimens obtained either through transbronchial lung biopsy (TBLB) or surgical lung biopsy (70.0% vs. 69.2%, p > 0.05). A novel mutation in VEZF1 (c.A659G) was detected in four participants and may represent a mild disease state. TSC2 mutation was significantly related to a shorter 6MWD (p < 0.05), and a higher percentage of VEGF-D over 800 pg/mL (p < 0.05); stop-gain mutation was significantly related to a higher prevalence of pneumothorax.<bold>Conclusions: </bold>Tumor-driver mutations in genes other than TSC2 may have a role in S-LAM, and TBLB specimens are practical alternatives for genomic analysis. TSC2 mutation detectability and types are related to the disease severity and phenotypes of S-LAM.
- Publication
BMC Pulmonary Medicine, 2022, Vol 22, Issue 1, p1
- ISSN
1471-2466
- Publication type
journal article
- DOI
10.1186/s12890-022-02154-0