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

Abstract Various 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...

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Autores principales:	Keitaro Shimozaki, Hideyuki Hayashi, Shigeki Tanishima, Sara Horie, Akihiko Chida, Kai Tsugaru, Kazuhiro Togasaki, Kenta Kawasaki, Eriko Aimono, Kenro Hirata, Hiroshi Nishihara, Takanori Kanai, Yasuo Hamamoto
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9a1141042f2a419b9870c3b516403a9b
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spelling	oai:doaj.org-article:9a1141042f2a419b9870c3b516403a9b2021-12-02T18:37:11ZConcordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors10.1038/s41598-021-99364-z2045-2322https://doaj.org/article/9a1141042f2a419b9870c3b516403a9b2021-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-99364-zhttps://doaj.org/toc/2045-2322Abstract Various 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.Keitaro ShimozakiHideyuki HayashiShigeki TanishimaSara HorieAkihiko ChidaKai TsugaruKazuhiro TogasakiKenta KawasakiEriko AimonoKenro HirataHiroshi NishiharaTakanori KanaiYasuo HamamotoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Keitaro Shimozaki Hideyuki Hayashi Shigeki Tanishima Sara Horie Akihiko Chida Kai Tsugaru Kazuhiro Togasaki Kenta Kawasaki Eriko Aimono Kenro Hirata Hiroshi Nishihara Takanori Kanai Yasuo Hamamoto Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
description	Abstract Various 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.
format	article
author	Keitaro Shimozaki Hideyuki Hayashi Shigeki Tanishima Sara Horie Akihiko Chida Kai Tsugaru Kazuhiro Togasaki Kenta Kawasaki Eriko Aimono Kenro Hirata Hiroshi Nishihara Takanori Kanai Yasuo Hamamoto
author_facet	Keitaro Shimozaki Hideyuki Hayashi Shigeki Tanishima Sara Horie Akihiko Chida Kai Tsugaru Kazuhiro Togasaki Kenta Kawasaki Eriko Aimono Kenro Hirata Hiroshi Nishihara Takanori Kanai Yasuo Hamamoto
author_sort	Keitaro Shimozaki
title	Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
title_short	Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
title_full	Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
title_fullStr	Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
title_full_unstemmed	Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
title_sort	concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/9a1141042f2a419b9870c3b516403a9b
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_version_	1718377814964568064

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

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