Multiplex Digital PCR Assay to Detect Multiple KRAS and GNAS Mutations Associated with Pancreatic Carcinogenesis from Minimal Specimen Amounts

Maeda, Chiho; Ono, Yoshio; Hayashi, Akira; Takahashi, Kenji; Taniue, Kenzui; Kakisaka, Rika; Mori, Masayuki; Ishii, Takahiro; Sato, Hiroki; Okada, Tetsuhiro; Kawabata, Hidemasa; Goto, Takuma; Tamamura, Nobue; Omori, Yuko; Takahashi, Kuniyuki; Katanuma, Akio; Karasaki, Hidenori; Liss, Andrew S.; Mizukami, Yusuke

doi:10.1016/j.jmoldx.2023.02.007

Cited by 5 publications

(1 citation statement)

References 25 publications

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“…Furthermore, new technology allows highly sensitive assays to detect low-frequency mutations in a minimal amount of samples. A multiplex digital PCR assay has been reported to simultaneously identify multiple KRAS and GNAS mutations in small residual specimen such as fine-needle aspiration needle flush [ 97 ]. The DNA-based testing of serum/liquid biopsy is emerging.…”

Section: Advanced Diagnostic Tools For Pancreatic Cystic Lesionsmentioning

confidence: 99%

Molecular Pathology of Pancreatic Cystic Lesions with a Focus on Malignant Progression

Hu,

Jones,

Esnakula

et al. 2024

Cancers

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The malignant progression of pancreatic cystic lesions (PCLs) remains understudied with a knowledge gap, yet its exploration is pivotal for effectively stratifying patient risk and detecting cancer at its earliest stages. Within this review, we delve into the latest discoveries on the molecular level, revealing insights into the IPMN molecular landscape and revised progression model, associated histologic subtypes, and the role of inflammation in the pathogenesis and malignant progression of IPMN. Low-grade PCLs, particularly IPMNs, can develop into high-grade lesions or invasive carcinoma, underscoring the need for long-term surveillance of these lesions if they are not resected. Although KRAS and GNAS remain the primary oncogenic drivers of neoplastic development in IPMNs, additional genes that are important in tumorigenesis have been recently identified by whole exome sequencing. A more complete understanding of the genes involved in the molecular progression of IPMN is critical for effective monitoring to minimize the risk of malignant progression. Complicating these strategies, IPMNs are also frequently multifocal and multiclonal, as demonstrated by comparative molecular analysis. Algorithms for preoperative cyst sampling and improved radiomic techniques are emerging to model this spatial and temporal genetic heterogeneity better. Here, we review the molecular pathology of PCLs, focusing on changes associated with malignant progression. Developing models of molecular risk stratification in PCLs which can complement radiologic and clinical features, facilitate the early detection of pancreatic cancer, and enable the development of more personalized surveillance and management strategies are summarized.

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Section: Advanced Diagnostic Tools For Pancreatic Cystic Lesionsmentioning

confidence: 99%

Molecular Pathology of Pancreatic Cystic Lesions with a Focus on Malignant Progression

Hu,

Jones,

Esnakula

et al. 2024

Cancers

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Current status of molecular diagnostic approaches using liquid biopsy

et al. 2023

Self Cite

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Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive and lethal cancers, and developing an efficient and reliable approach for its early-stage diagnosis is urgently needed. Precancerous lesions of PDAC, such as pancreatic intraepithelial neoplasia (PanIN) and intraductal papillary mucinous neoplasms (IPMN), arise through multiple steps of driver gene alterations in KRAS, TP53, CDKN2A, SMAD4, or GNAS. Hallmark mutations play a role in tumor initiation and progression, and their detection in bodily fluids is crucial for diagnosis. Recently, liquid biopsy has gained attention as an approach to complement pathological diagnosis, and in addition to mutation signatures in cell-free DNA, cell-free RNA, and extracellular vesicles have been investigated as potential diagnostic and prognostic markers. Integrating such molecular information to revise the diagnostic criteria for pancreatic cancer can enable a better understanding of the pathogenesis underlying inter-patient heterogeneity, such as sensitivity to chemotherapy and disease outcomes. This review discusses the current diagnostic approaches and clinical applications of genetic analysis in pancreatic cancer and diagnostic attempts by liquid biopsy and molecular analyses using pancreatic juice, duodenal fluid, and blood samples. Emerging knowledge in the rapidly advancing liquid biopsy field is promising for molecular profiling and diagnosing pancreatic diseases with significant diversity.

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A multiplex digital PCR assay for detection and quantitation of porcine circovirus type 2 and type 3

Shuai,

Chen,

Wang

et al. 2024

Arch Virol

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Multiplex Digital PCR Assay to Detect Multiple KRAS and GNAS Mutations Associated with Pancreatic Carcinogenesis from Minimal Specimen Amounts

Cited by 5 publications

References 25 publications

Molecular Pathology of Pancreatic Cystic Lesions with a Focus on Malignant Progression

Molecular Pathology of Pancreatic Cystic Lesions with a Focus on Malignant Progression

Current status of molecular diagnostic approaches using liquid biopsy

A multiplex digital PCR assay for detection and quantitation of porcine circovirus type 2 and type 3

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