Comprehensive genomic profiling for patients with chemotherapy‐naïve advanced cancer

Kondo, Tomohiro; Matsubara, Junichi; Quy, Pham Nguyen; Fukuyama, Keita; Nomura, Motoo; Funakoshi, Taro; Doi, Kouki; Sakamori, Yuichi; Yoshioka, Masahiro; Yokoyama, Akihiro; Tamaoki, Masashi; Kou, Tadayuki; Hirohashi, Kenshiro; Yamada, Atsushi; Yamamoto, Yoshihiro; Minamiguchi, Sachiko; Nishigaki, Masakazu; Yamada, Takahiro; Kanai, Masashi; Matsumoto, Shigemi; Muto, Manabu

doi:10.1111/cas.14674

Cited by 30 publications

(53 citation statements)

References 28 publications

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“…However, these two NGS assays can evaluate gene alterations in four MMR genes. The detection rate of actionable gene alterations in each NGS assay is 62.9% in F1CDx 32 and 46% in PleSSision 25 . Although the present study was not aimed at comparing these two assays, we consider that they are equivalent in the evaluation of MSI status and detection of MMR deficiency.…”

Section: Discussionmentioning

confidence: 97%

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

Shimozaki

Hayashi

Tanishima

et al. 2021

Sci Rep

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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.

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Section: Discussionmentioning

confidence: 97%

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

Shimozaki

Hayashi

Tanishima

et al. 2021

Sci Rep

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“…AFFILIATIONS 1 Tata Medical Center, New Town, India 2 Sylvester Comprehensive Cancer Center, Miami, FL 3 Tata Medical Center, Mumbai, India…”

Section: Corresponding Authormentioning

confidence: 99%

“…CGP can disclose biomarkers at nucleotide-level resolution and typically comprises all major genomic variant classes, as well as large genomic signatures, maximizing the ability to find clinically actionable alterations. 1 There are several reasons why CGP is becoming commonly used in higher-resource settings. First, almost all advanced malignancies evolve and become resistant to standard chemotherapy after initial treatment.…”

mentioning

confidence: 99%

Are We Right on Target? Is Comprehensive Genomic Profiling Ready for Prime Time in Resource-Constrained Settings?

Ghosh

Lopes

Chopra

2022

JCO Global Oncology

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“…Of the “personalized medicine”, meaning medical treatment that selects the best treatment based on an individual’s genetic mutation and genome information, “precision medicine” is particularly concerned with finding abnormalities in biomarkers and therapeutic drugs in the vast amount of data obtained by NGS [ 11 ]. From June 2019, cancer genome profiling (CGP) test using the NGS-based FoundationOne ® companion diagnostic (F1CDx; Foundation Medicine, Inc, Cambridge, MA, USA) tests and OncoGuide™ NCC Oncopanel System (Sysmex Corp, Kobe, Japan) will be covered by insurance in Japan for patients with solid tumors who have not received or completed standard treatment [ 12 ]. The CGP test is used to determine the optimal molecular targeted drugs that match the genetic mutations and genomic information of each patient, and its widespread use is expected to accelerate the development of precision medicine in the future.…”

Section: Current Status Of Ngs Analysis In Osccmentioning

confidence: 99%

Searching for New Molecular Targets for Oral Squamous Cell Carcinoma with a View to Clinical Implementation of Precision Medicine

Sasahira

Kurihara‐Shimomura

Shimojjukoku

et al. 2022

JPM

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Head and neck cancer, including oral squamous cell carcinoma (OSCC), is the eighth most common malignancy globally and is characterized by local invasiveness and high nodal metastatic potential. The OSCC incidence is also increasing, and the number of deaths is also rising steadily in Japan. The development of molecular markers to eradicate OSCC is an urgent issue for humankind. The increase in OSCC despite the declining smoking rate may be due to several viral infections through various sexual activities and the involvement of previously unfocused carcinogens, and genetic alterations in individual patients are considered to be more complicated. Given this situation, it is difficult to combat OSCC with conventional radiotherapy and chemotherapy using cell-killing anticancer drugs alone, and the development of precision medicine, which aims to provide tailor-made medicine based on the genetic background of each patient, is gaining attention. In this review article, the current status of the comprehensive search for driver genes and biomarkers in OSCC will be briefly described, and some of the candidates for novel markers of OSCC that were found will be outlined.

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Comprehensive genomic profiling for patients with chemotherapy‐naïve advanced cancer

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 30 publications

References 28 publications

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

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

Are We Right on Target? Is Comprehensive Genomic Profiling Ready for Prime Time in Resource-Constrained Settings?

Searching for New Molecular Targets for Oral Squamous Cell Carcinoma with a View to Clinical Implementation of Precision Medicine

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