Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma
- Ludwig Center for Cancer Genetics and Therapeutics, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, United States
- Department of Pediatrics, Johns Hopkins University School of Medicine, United States
- Department of Oncology, Sidney Kimmel Comprehensive Cancer, Johns Hopkins University, United States
- Department of Neurology, Johns Hopkins University School of Medicine, MD School of Medicine, United States
- Department of Pathology, Johns Hopkins University School of Medicine, United States
- Department of Neurosurgery, Johns Hopkins University School of Medicine, United States
Figures
Figure 1
Distribution of genome wide aneuploidy (GAS) scores in healthy individuals and patients with benign (BN) or plexiform neurofibronas (PN) or MPNST.
**p < 0.01, ***p < 0.001.
Figure 2 with 1 supplement
Genome wide aneuploidy scores and detection of sub-chromosomal copy number changes in PDGFA, TERT, TBX1, EGFR, BRAF, EXT1, CDKN2A/B, PTEN, EXT2, EED, IDH2, TP53, NF1, and SUZ12 allow for detection of 50% of MPNST at 97% specificity.
Figure 2—figure supplement 1
Patients with MPNST demonstrated loss of SUZ12 on chromosome 17q.
Each dot represents a sub-chromosomal locus covered by RealSeqS.
Additional files
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Supplementary file 1
Genome wide aneuploidy (GAS) scores and number of useable UIDs for 883 healthy controls.
- https://cdn.elifesciences.org/articles/74238/elife-74238-supp1-v2.xlsx
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Supplementary file 2
Clinicopathological characteristics of the patient cohort and the results of genome wide aneuploidy analysis and mutation analysis of ctDNA.
- https://cdn.elifesciences.org/articles/74238/elife-74238-supp2-v2.xlsx
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Supplementary file 3
Detailed genome wide aneuploidy scores per chromosome arm.
- https://cdn.elifesciences.org/articles/74238/elife-74238-supp3-v2.xlsx
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Supplementary file 4
Focal copy number change analysis for 13 commonly altered loci in MPNST.
- https://cdn.elifesciences.org/articles/74238/elife-74238-supp4-v2.xlsx
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Supplementary file 5
Whole exome sequencing results for 6 patients with ctDNA mutation analysis.
- https://cdn.elifesciences.org/articles/74238/elife-74238-supp5-v2.xlsx
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Transparent reporting form
- https://cdn.elifesciences.org/articles/74238/elife-74238-transrepform1-v2.docx
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Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma
eLife 11:e74238.
https://doi.org/10.7554/eLife.74238
