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A new study published in "PLOS Medicine" highlights how the analysis of blood samples can help high-risk groups find malignant tumors
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In this study, scientists from research institutions such as the University of Washington School of Medicine and the National Cancer Institute identified some circulating tumor DNA (ctDNA) features that help distinguish malignant peripheral nerve sheath tumors (MPNST) from benign type 1 nerve fibers Tumor (NF1)
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Malignant peripheral nerve sheath tumor is a fatal soft tissue sarcoma, which is relatively rare
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Plexiform neurofibroma (PN) is one of the benign type 1 neurofibroma manifestations, caused by the loss of function of the NF1 tumor suppressor gene
Co-corresponding author Aadel Chaudhuri of the Settman Cancer Center of the University of Washington said: "Using the combination of ultra-low-depth whole-genome sequencing and free DNA fragment screening, we can specifically and sensitively distinguish MPNST patients from those with benign lesions.
Come
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These results demonstrate for the first time that we can distinguish malignant tumors from precancerous lesions through cfDNA liquid biopsy analysis
In this way, the researchers evaluated the free DNA (cfDNA) in plasma samples from 16 healthy volunteers and 37 NF1 patients—including 23 samples from 23 PN patients and 46 samples from 14 MPNST patients
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Similar to the characteristics of MPNST tumors, cfDNA from MPNST patients contains characteristic chromosomal gains and losses
Based on cfDNA fragment size, copy number map and genome instability patterns, researchers have developed a classification tool that can distinguish individuals with or without tumors, and at the same time distinguish benign and malignant tumors, with an accuracy of 86% and sensitivity.
The sex is 75% and the specificity is 91%
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"There is a focal copy number loss of NF1 in the plasma cfDNA of patients with MPNST and PN, which is not found in healthy donors," the authors report, noting that "compared with PN, the cfDNA of MPNST patients has significantly higher tumor genome instability Sexuality, and there are copy number changes in key genomic loci.
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This allows us to sensitively and specifically distinguish benign and malignant tumors through liquid biopsy
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Researchers report that in samples collected over time, the cfDNA-based tool correctly classified 89% of MPNST and PN cases, with a sensitivity of 83% and a specificity of approximately 91%
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In addition, Chaudhuri pointed out that when researchers quantified and continuously collected ctDNA in MPNST samples, they found that this method may help track treatment response and detect minimal residual disease associated with recurrence after treatment
"In the future," the authors report, "our results can lay the foundation for improving early cancer detection and monitoring for people who are susceptible to high-risk cancers
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Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, et al.
