The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers

Next generation sequencing (NGS) has facilitated the identification of molecularly targeted therapies. However, clinical utility is an emerging challenge. Our objective was to identify the clinical utility of NGS testing in gynecologic cancers. A retrospective review of clinico-pathologic data was p...

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Main Authors: Vijaya Kadam Maruthi, Mahyar Khazaeli, Devi Jeyachandran, Mohamed Mokhtar Desouki
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/14/5/1352
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author Vijaya Kadam Maruthi
Mahyar Khazaeli
Devi Jeyachandran
Mohamed Mokhtar Desouki
author_facet Vijaya Kadam Maruthi
Mahyar Khazaeli
Devi Jeyachandran
Mohamed Mokhtar Desouki
author_sort Vijaya Kadam Maruthi
collection DOAJ
description Next generation sequencing (NGS) has facilitated the identification of molecularly targeted therapies. However, clinical utility is an emerging challenge. Our objective was to identify the clinical utility of NGS testing in gynecologic cancers. A retrospective review of clinico-pathologic data was performed on 299 gynecological cancers where NGS testing had been performed to identify (1) recognition of actionable targets for therapy, (2) whether the therapy changed based on the findings, and (3) the impact on survival. High grade serous carcinoma was the most common tumor (52.5%). The number of genetic alterations ranged from 0 to 25 with a mean of 2.8/case. The most altered genes were <i>TP53, PIK3CA, BRCA1</i> and <i>BRCA2</i>. Among 299 patients, 100 had actionable alterations (79 received a targeted treatment (Group1), 29 did not receive treatment (Group 2), and there were no actionable alterations in 199 (Group3). The death rate in groups 1, 2 and 3 was 54.4%, 42.8% and 50.2%, with an average survival of 18.6, 6.6 and 10.8 months, respectively (<i>p</i> = 0.002). In summary, NGS testing for gynecologic cancers detected 33.4% of actionable alterations with a high clinical action rate. Along with the high clinical utility of NGS, testing also seemed to improve survival for patients who received targeted treatment.
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spelling doaj.art-ab4e6191d7f74fabb9a6737561928afe2023-11-23T22:49:42ZengMDPI AGCancers2072-66942022-03-01145135210.3390/cancers14051352The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic CancersVijaya Kadam Maruthi0Mahyar Khazaeli1Devi Jeyachandran2Mohamed Mokhtar Desouki3Department of Pathology, University at Buffalo, Buffalo, NY 14260, USADepartment of Pathology, University at Buffalo, Buffalo, NY 14260, USADepartment of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USADepartment of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USANext generation sequencing (NGS) has facilitated the identification of molecularly targeted therapies. However, clinical utility is an emerging challenge. Our objective was to identify the clinical utility of NGS testing in gynecologic cancers. A retrospective review of clinico-pathologic data was performed on 299 gynecological cancers where NGS testing had been performed to identify (1) recognition of actionable targets for therapy, (2) whether the therapy changed based on the findings, and (3) the impact on survival. High grade serous carcinoma was the most common tumor (52.5%). The number of genetic alterations ranged from 0 to 25 with a mean of 2.8/case. The most altered genes were <i>TP53, PIK3CA, BRCA1</i> and <i>BRCA2</i>. Among 299 patients, 100 had actionable alterations (79 received a targeted treatment (Group1), 29 did not receive treatment (Group 2), and there were no actionable alterations in 199 (Group3). The death rate in groups 1, 2 and 3 was 54.4%, 42.8% and 50.2%, with an average survival of 18.6, 6.6 and 10.8 months, respectively (<i>p</i> = 0.002). In summary, NGS testing for gynecologic cancers detected 33.4% of actionable alterations with a high clinical action rate. Along with the high clinical utility of NGS, testing also seemed to improve survival for patients who received targeted treatment.https://www.mdpi.com/2072-6694/14/5/1352molecular testinggynecologic tumorsnext generation sequencing
spellingShingle Vijaya Kadam Maruthi
Mahyar Khazaeli
Devi Jeyachandran
Mohamed Mokhtar Desouki
The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
Cancers
molecular testing
gynecologic tumors
next generation sequencing
title The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
title_full The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
title_fullStr The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
title_full_unstemmed The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
title_short The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers
title_sort clinical utility and impact of next generation sequencing in gynecologic cancers
topic molecular testing
gynecologic tumors
next generation sequencing
url https://www.mdpi.com/2072-6694/14/5/1352
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