Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.
Next generation sequencing of circulating tumor DNA (ctDNA) has been used as a noninvasive alternative for cancer diagnosis and characterization of tumor mutational landscape. However, low ctDNA fraction and other factors can limit the ability of ctDNA analysis to capture tumor-specific and actionab...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2023-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0292879 |
| _version_ | 1797647752249737216 |
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| author | Julanee Leenanitikul Prangwalai Chanchaem Suwanan Mankhong Sikrit Denariyakoon Valla Fongchaiya Areeya Arayataweegool Pattama Angspatt Ploytuangporn Wongchanapai Verayuth Prapanpoj Kris Chatamra Trairak Pisitkun Sira Sriswasdi Piriya Wongkongkathep |
| author_facet | Julanee Leenanitikul Prangwalai Chanchaem Suwanan Mankhong Sikrit Denariyakoon Valla Fongchaiya Areeya Arayataweegool Pattama Angspatt Ploytuangporn Wongchanapai Verayuth Prapanpoj Kris Chatamra Trairak Pisitkun Sira Sriswasdi Piriya Wongkongkathep |
| author_sort | Julanee Leenanitikul |
| collection | DOAJ |
| description | Next generation sequencing of circulating tumor DNA (ctDNA) has been used as a noninvasive alternative for cancer diagnosis and characterization of tumor mutational landscape. However, low ctDNA fraction and other factors can limit the ability of ctDNA analysis to capture tumor-specific and actionable variants. In this study, whole-exome sequencings (WES) were performed on paired ctDNA and tumor biopsy in 15 cancer patients to assess the extent of concordance between mutational profiles derived from the two source materials. We found that up to 16.4% ctDNA fraction can still be insufficient for detecting tumor-specific variants and that good concordance with tumor biopsy is consistently achieved at higher ctDNA fractions. Most importantly, ctDNA analysis can consistently capture tumor heterogeneity and detect key cancer-related genes even in a patient with both primary and metastatic tumors. |
| first_indexed | 2024-03-11T15:22:01Z |
| format | Article |
| id | doaj.art-61f435fb469d4432b621fddb99e6faeb |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-03-11T15:22:01Z |
| publishDate | 2023-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-61f435fb469d4432b621fddb99e6faeb2023-10-28T05:31:31ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-011810e029287910.1371/journal.pone.0292879Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.Julanee LeenanitikulPrangwalai ChanchaemSuwanan MankhongSikrit DenariyakoonValla FongchaiyaAreeya ArayataweegoolPattama AngspattPloytuangporn WongchanapaiVerayuth PrapanpojKris ChatamraTrairak PisitkunSira SriswasdiPiriya WongkongkathepNext generation sequencing of circulating tumor DNA (ctDNA) has been used as a noninvasive alternative for cancer diagnosis and characterization of tumor mutational landscape. However, low ctDNA fraction and other factors can limit the ability of ctDNA analysis to capture tumor-specific and actionable variants. In this study, whole-exome sequencings (WES) were performed on paired ctDNA and tumor biopsy in 15 cancer patients to assess the extent of concordance between mutational profiles derived from the two source materials. We found that up to 16.4% ctDNA fraction can still be insufficient for detecting tumor-specific variants and that good concordance with tumor biopsy is consistently achieved at higher ctDNA fractions. Most importantly, ctDNA analysis can consistently capture tumor heterogeneity and detect key cancer-related genes even in a patient with both primary and metastatic tumors.https://doi.org/10.1371/journal.pone.0292879 |
| spellingShingle | Julanee Leenanitikul Prangwalai Chanchaem Suwanan Mankhong Sikrit Denariyakoon Valla Fongchaiya Areeya Arayataweegool Pattama Angspatt Ploytuangporn Wongchanapai Verayuth Prapanpoj Kris Chatamra Trairak Pisitkun Sira Sriswasdi Piriya Wongkongkathep Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. PLoS ONE |
| title | Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. |
| title_full | Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. |
| title_fullStr | Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. |
| title_full_unstemmed | Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. |
| title_short | Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue. |
| title_sort | concordance between whole exome sequencing of circulating tumor dna and tumor tissue |
| url | https://doi.org/10.1371/journal.pone.0292879 |
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