93 research outputs found

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

    Original research n Gastrointestinal imaGinG intravoxel incoherent Motion Diffusion-weighted Mr imaging for characterization of Focal Pancreatic lesions 1

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    Purpose: To evaluate the diagnostic potential of apparent diffusion coefficient (ADC) and intravoxel incoherent motion (IVIM)-derived parameters for differentiation of common pancreatic tumors, chronic pancreatitis, and normal pancreas and for characterization of the malignancy potential of intraductal papillary mucinous neoplasms (IPMNs). Materials and Methods: The institutional review board approved this retrospective study, and informed consent was waived. Ninety-three consecutive patients with surgically resected and pathologically confirmed pancreatic tumors (39 pancreatic adenocarcinomas [PACs], 17 neuroendocrine tumors [NETs], and 37 IPMNs), seven patients with chronic pancreatitis, and 26 patients with a normal pancreas were included in this study. All patients underwent pancreatic 3.0-T magnetic resonance imaging, including IVIM diffusionweighted imaging with 10 b values used (from 0 to 1000 sec/mm 2 ). The ADC, slow component of diffusion (D slow ), incoherent microcirculation (D fast ), and perfusion fraction (f) were calculated. Steel-Dwass and Mann-Whitney U tests were used for comparison. The diagnostic performance of the parameters was evaluated by using receiver operating characteristic (ROC) analysis with Bonferroni correction. Results: Among ADC-and IVIM-derived parameters, D fast and f values of PACs were significantly lower than those of normal pancreas, chronic pancreatitis, and NETs (all P , .05 in post hoc analyses). For differentiation of PACs from NETs, f and D fast showed a significant difference (P , .0001 for both) and were more useful parameters than ADC and D slow in ROC analysis (all P , .05). Malignant IPMNs had significantly lower ADC and D slow values and higher D fast and f values when compared with benign IPMNs (all P , .05). In ROC analysis, f showed the highest area under the ROC curve value for distinguishing malignant from benign IPMNs. Conclusion: IVIM-derived perfusion-related parameters could be helpful for the differentiation of common malignant tumors in the pancreas and for distinguishing malignant from benign IPMNs. D fast and f were more valuable parameters in the differentiation of PACs from NETs than were ADC and D slow . q RSNA, 201
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