2019
DOI: 10.1002/ijc.32511
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Identification of driver genes and somatic mutations in cell‐free DNA of patients with pulmonary lymphangioleiomyomatosis

Abstract: Next‐generation sequencing of cell‐free circulating DNA (cfDNA) has emerged as promising technique for identifying minimally invasive genomic profiling of tumor cells recently. However, it remains relatively unknown in LAM disease. In our study, paired cfDNA and genomic DNA (gDNA) in blood samples were obtained from 23 LAM patients and seven healthy controls to explore mutations profiles of targeted 70 cancer‐related genes. As results, log2‐based allele frequencies of mutations in cfDNA were significantly diff… Show more

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Cited by 8 publications
(8 citation statements)
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“…LAM can be considered as a systemic disease, which multiple organs are involved by a number of PEComatous tumor family, e.g., renal angiomyolipoma. Thus, a detection of driver mutation in cell-free circulating DNA (cfDNA) has been proposed as a potential diagnostic tool in LAM (Zhang et al 2020 ).…”
Section: Introductionmentioning
confidence: 99%
“…LAM can be considered as a systemic disease, which multiple organs are involved by a number of PEComatous tumor family, e.g., renal angiomyolipoma. Thus, a detection of driver mutation in cell-free circulating DNA (cfDNA) has been proposed as a potential diagnostic tool in LAM (Zhang et al 2020 ).…”
Section: Introductionmentioning
confidence: 99%
“…More contemporary studies have employed other methods of sequencing and used circulating cfDNA as the material. In 2019, Zhang et al sequenced cfDNA in 23 LAM patients but found no TSC2 mutation [ 14 ]. Additionally, Liu et al employed multiple sequencing methods, including target capture sequencing, Sanger sequencing, chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA), to reveal a TSC2 mutation detection rate of 70.6% (36/51) in S-LAM subjects [ 15 ].…”
Section: Discussionmentioning
confidence: 99%
“…S-LAM is conventionally considered to be a disease solely associated with the TSC2 gene. Multiple modalities of TSC2 alterations, including loss of heterozygosity (LOH), somatic mutations, rearrangements, and deletions [ 8 12 ], have been detected in S-LAM patients [ 8 , 9 , 13 , 14 ]. Nevertheless, TSC2 mutations are not found in every S-LAM patient.…”
Section: Introductionmentioning
confidence: 99%
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