b'Section 2: New approaches to cancer detectionIntroduction Detection of pancreatic ductal adenocarcinoma (PDAC) is Using genetic technologies to detect cancer early incomplicated by the fact that tissue masses from nonmalignant carcinogenesis is one of the paramount intentions of precisionchronic pancreatitis (CP) can cause the same signs and medicine. Oncogenes are in a constant and delicate balancesymptoms as malignant neoplasms. Resistance to available with cancer suppression genes. Excessive growth signalstherapies, late clinical presentation, and difficult early diagnosis from either initiator or suppressor genes can send cellall contribute to poor outcomes. PDAC also has greater genetic proliferation and apoptosis out of control, enabling cancerheterogeneity than any other tumor, suggesting that no single to take hold. Early identification of cancer gene expressionmolecular biomarker and no single molecular targeted therapy will signatures may be essential for defining individualizedwork for diagnosing and treating all PDAC patients. Gress et al. treatment strategies to inhibit disease progression [1]. Here,explored the potential of multiplexing mRNA and miRNA markers we discuss how genetic analysis technologies such as next- to differentiate and diagnose PDAC from CP. They developed a generation sequencing (NGS), qPCR, dPCR, microarrays, andplatform that incorporates both mRNA and miRNA markers on capillary electrophoresis are continuing to lead the cuttinga single Applied Biosystems TaqMan array microfluidic card. edge of cancer detection in basic and applied research areas.RT-qPCR was used for simultaneous analysis of miRNA and mRNA expression patterns using minimal amounts of biopsy Solid-tumor biopsy sample. Their studies using this multi-omics platform yielded About 90% of cancers in adults and 40% of cancers in children100% diagnostic accuracy of PDAC vs. CP and yielded superior are solid tumors. Microscopic examination of tissue biopsiesclassification compared to classifiers that were based on only has long been the gold standard for distinguishing benign frommiRNA markers. The authors also concluded that the TaqMan malignant solid tissue masses. Molecular profiling of solid tumorsarray cards offer the additional advantages of a high degree of can take several weeks. Tumor heterogeneity can also complicatestandardization and limited hands-on time [4]. diagnosis [2]. Genetic technologies are enabling new approachesIn cases of challenging tumor detection, some molecular to solid-tumor analysis that may help detect and differentiatedetection technologies can be limited by cost, accuracy, solid tumors in a quicker manner.availability of enough tissue, and time to conduct the assay. New developments in ion semiconductorbased NGS, such asAccurate and timely tumor characterization from very small Ion Torrent NGS technology, have made major contributions insample amounts can be particularly vital for aggressive, characterizing somatic mutations in cancer genomes. Targeteddispersed, or inoperable tumors such as gliomas, the most NGS panels allow simultaneous analysis of multiple targets,common tumor of the brain. Due to the difficulty of extracting which can eliminate the need for reflex testing and reduce thetissue from the brain, glioma samples are precious, and amount of sample required for mutation analysis. To assessbiopsies generally yield very little sample. Saxena et al. used the feasibility of ion semiconductor sequencing for solid-tumorApplied Biosystems TaqMan Assays with high-density detection, Mehrotra et al. analyzed the ability of several differentnanofluidic dPCR to detect epidermal growth factor receptor ion semiconductor sequencing systems, including the Ion(EGFR) mutations from minute quantities of sample from S5 XL System, to detect variants in a variety of solid-tumorsolid glioblastoma tumors. They detected the EGFR variant III cancers in archived FFPE samples. Using comprehensive Ion(EGFRvIII), which is associated with treatment resistance and AmpliSeq cancer panels covering cancer hotspots and entirepoor prognosis, within 24 hours of surgery. They were also able coding regions of cancer-related genes, the authors found goodto characterize the heterogeneous distribution of mutations in concordance for mutation detection sensitivity and specificitycomplex glioma tumors. From this study, the authors conclude across all systems. The systems demonstrated strong variantthat dPCR is a faster and more sensitive diagnostic assay than detection performance, and their panel capacity, ease of use,whole-genome sequencing for detection of the EGFRvIII mutation and sequencing speed showed strong potential for future[2]. clinical use [3]. Normal TranscriptionCancer Transcription activation DNADNAinactivationmethylation methylationM ccccccccc M c M M MMMMMC MCMCMMCMM MM C C C C Cc c c c c c c cc M M MExon 1 Exon 2 Exon 3 Exon 1 Exon 2 Exon 3Promoter PromoterContents 5'