scholarly journals Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Keitaro Shimozaki ◽  
Hideyuki Hayashi ◽  
Shigeki Tanishima ◽  
Sara Horie ◽  
Akihiko Chida ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Microsatellite Instability ◽  
Solid Tumors ◽  
Next Generation ◽  
Chain Reaction ◽  
Predictive Values ◽  
Polymerase Chain ◽  
Generation Sequencing

AbstractVarious malignancies exhibit high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR). The MSI-IVD kit, a polymerase chain reaction (PCR)-based method, was the first tumor-agnostic companion diagnostic to detect MSI status in MSI-H solid tumors. Recently, next-generation sequencing (NGS), which can also detect MSI-H/dMMR, has been made clinically available; however, its real-world concordance with PCR-based testing of MSI-H/dMMR remains to be investigated. The co-primary end points included the positive and negative predictive values of MSI-H/dMMR. A retrospective analysis of 80 patients who had undergone both MSI testing and NGS between July 2015 and March 2021 was conducted. Five patients were confirmed to have MSI-H in both examinations. Among the 75 patients diagnosed as microsatellite stable (MSS) by PCR-based testing, one with pancreatic cancer was diagnosed as having MSI-H after NGS. One patient with pancreatic cancer was diagnosed as having MSS in both tests was found to have a mutation in MLH1 by NGS, which was confirmed as dMMR by IHC staining. NGS had positive and negative predictive values of 100% (5/5) and 98.7% (74/75), respectively, for MSI-H. The concordance between NGS and PCR-based testing was 98.8% (79/80). Thus, NGS can be useful for evaluating MSI/MMR status in clinical practice and can be an important alternative method for detecting MSI-H/dMMR in the future.

Next-generation sequencing ofHLA-Gbased on long-range polymerase chain reaction

HLA ◽  
2018 ◽  
Vol 92 (3) ◽  
pp. 144-153 ◽  
Author(s):  
L. L. Nilsson ◽  
T. Funck ◽  
N. D. Kjersgaard ◽  
T. V. F. Hviid
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Long Range ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Generation Sequencing

Diagnostik der Sepsis – Teil 2: Erregeridentifikation

2019 ◽  
Vol 54 (01) ◽  
pp. 38-48 ◽  
Author(s):  
Daniel Richter ◽  
Alexandra Heininger ◽  
Karsten Schmidt ◽  
Thomas Schmoch ◽  
Michael Bernhard ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Chain Reaction ◽  
Antimikrobielle Therapie ◽  
Polymerase Chain ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Kritisch Kranker

ZusammenfassungIm Rahmen der Sepsis und des septischen Schocks spielen, trotz der zunehmenden Verbreitung von neuen molekularbiologischen Verfahren, der kulturelle Erregernachweis und die Resistenztestung weiterhin die entscheidende Rolle in der antimikrobiellen Therapie auf der Intensivstation. Hierbei kann der Erregernachweis für die antimikrobielle Therapie einerseits direkt aus dem Patientenblut, andererseits aber auch aus diversen anderen Probenmaterialien (respiratorische Sekrete, Punktat, intraoperative Abstriche etc.) geführt werden. Ein Nachteil konventioneller kultureller Verfahren im Kontext kritisch kranker Patienten ist die zeitliche Latenz bis zum Erregernachweis bzw. zum Ergebnis der Resistenztestung. Molekularbiologische Verfahren wie Techniken der Erregerdiagnostik und Resistenztestung, die auf Polymerase Chain Reaction (PCR) oder vor allem Next-Generation Sequencing (NGS) basieren, versprechen hier zwar kürzere Umlaufzeiten, sind aber aktuell noch kein klinischer Standard. Trotzdem besitzen diese Verfahren das Potenzial, einen Paradigmenwechsel in der Erregerdiagnostik herbeizuführen.

scholarly journals Real-world Concordance in Microsatellite Instability Status Between PCR-based Testing and Next-Generation Sequencing Assay for Solid Tumors

2021 ◽  
Author(s):  
Keitaro Shimozaki ◽  
Hideyuki Hayashi ◽  
Sara Horie ◽  
Akihiko Chida ◽  
Kai Tsugaru ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Microsatellite Instability ◽  
Solid Tumors ◽  
Real World ◽  
Next Generation ◽  
Predictive Values ◽  
Primary Endpoints ◽  
Repair Deficiency ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: Various malignancies exhibit high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR). The MSI-IVD kit, which can detect MSI status using a polymerase chain reaction (PCR)-based method, was approved as the first tumor-agnostic companion diagnostic for pembrolizumab in patients with MSI-H solid tumors in Japan. Recently, next-generation sequencing (NGS), which can also detect MSI-H/dMMR, has been made clinically available. However, the real-world concordance in MSI-H/dMMR between the PCR-based testing and NGS is yet to be thoroughly investigated.Methods: A retrospective study was conducted to evaluate the utility of MSI testing using PCR-based testing and NGS assay in patients eligible for both MSI testing and any NGS platform. Co-primary endpoints included positive and negative predictive values of MSI-H/dMMR.Results: Between December 2018 and June 2020, 40 patients underwent both PCR-based MSI testing and NGS assay for MSI. Two patients with gastric neuroendocrine carcinoma and ovarian cancer were confirmed to have MSI-H/dMMR in both examinations. Among the 38 patients diagnosed as microsatellite stable by PCR-based testing, 2 (5.2%) with pancreatic cancer were diagnosed as MSI-H after NGS analyses. NGS had positive and negative predictive values of 100% (2/2) and 94.7% (36/38), respectively, for MSI-H, while the concordance between NGS and PCR-based testing was 94.9% (38/40).Conclusion: Similar to PCR-based MSI testing, NGS can be useful for evaluating MSI/MMR status in clinical practice and could be an important alternative method for detecting MSI-H/dMMR in the future.

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