Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures
Background This study addresses the need for improved diagnostic tools to identify malignancy in suspicious biliary strictures. Traditional cytological morphology is often indecisive, prompting the exploration of Next Generation Sequencing (NGS) for enhanced sensitivity. Our aim is to evaluate NGS&...
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| Format: | Article |
| Language: | English |
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Georg Thieme Verlag KG
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| Series: | Endoscopy International Open |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2687-3552 |
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| author | Tina L.N. Meijering David Michaël de Jong Swip Draijer Marco Bruno H. J. Dubbink Jeroen de Jonge Marie-Louise F. van Velthuysen Lydi Van Driel |
| author_facet | Tina L.N. Meijering David Michaël de Jong Swip Draijer Marco Bruno H. J. Dubbink Jeroen de Jonge Marie-Louise F. van Velthuysen Lydi Van Driel |
| author_sort | Tina L.N. Meijering |
| collection | DOAJ |
| description | Background
This study addresses the need for improved diagnostic tools to identify malignancy in suspicious biliary strictures. Traditional cytological morphology is often indecisive, prompting the exploration of Next Generation Sequencing (NGS) for enhanced sensitivity. Our aim is to evaluate NGS's additional value in classifying biliary brushes and biopsies and its impact on Clinical Decision Making (CDM).
Patients and methods
In this retrospective single-centre cohort study, patients were included from 2019 to 2022 in whom morphologic interpretation and NGS were performed on cytological or histological material from suspicious biliary strictures. Sensitivity and specificity of NGS were calculated for benign or atypical vs. suspicious for malignancy or malignant morphology in biliary brushes and biopsies. In addition, changes in CDM after NGS outcome were evaluated.
Results
In total 109 samples of 106 patients were included in the study. NGS correctly identified 42 of the 75 malignancies (56%). Sensitivity and specificity of morphology for brushes were 56% (95% CI, 43–68%) and 94% (95% CI, 79–99%), respectively. Adding NGS resulted in a sensitivity and specificity of 78% (95% CI, 66–87%) and 94% (95% CI, 79–99%). For biopsies, the sensitivity and specificity of morphology were 67% (95% CI, 35–90%) and 67% (95% CI, 9–99%), adding NGS did not alter these results. The outcome of NGS resulted in a change of classification of morphology in 36% and a change in CDM in 8%.
Conclusions
NGS in brushes contributed to more accurate/sensitive diagnoses of malignancy than morphology alone. There was a limited impact on CDM change, but in the future NGS will undoubtedly play a bigger role when targeted therapy is incorporated in standard treatment and more sensitive NGS panels for cholangiocarcinoma are developed. |
| format | Article |
| id | doaj-art-c42b8b0b857348b6af419d87dbe676fb |
| institution | Kabale University |
| issn | 2364-3722 2196-9736 |
| language | English |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | Endoscopy International Open |
| spelling | doaj-art-c42b8b0b857348b6af419d87dbe676fb2025-08-20T22:51:59ZengGeorg Thieme Verlag KGEndoscopy International Open2364-37222196-973610.1055/a-2687-3552Yield of next generation sequencing in diagnostic work up of suspicious biliary stricturesTina L.N. Meijering0David Michaël de Jong1https://orcid.org/0000-0001-5068-8227Swip Draijer2Marco Bruno3H. J. Dubbink4Jeroen de Jonge5Marie-Louise F. van Velthuysen6Lydi Van Driel7Gastroenterology and Hepatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsGastroenterology and Hepatology, Erasmus MC University Medical Center RotterdamPathology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsGastroenterology and Hepatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsPathology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsSurgery, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsPathology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsGastroenterology and Hepatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, NetherlandsBackground This study addresses the need for improved diagnostic tools to identify malignancy in suspicious biliary strictures. Traditional cytological morphology is often indecisive, prompting the exploration of Next Generation Sequencing (NGS) for enhanced sensitivity. Our aim is to evaluate NGS's additional value in classifying biliary brushes and biopsies and its impact on Clinical Decision Making (CDM). Patients and methods In this retrospective single-centre cohort study, patients were included from 2019 to 2022 in whom morphologic interpretation and NGS were performed on cytological or histological material from suspicious biliary strictures. Sensitivity and specificity of NGS were calculated for benign or atypical vs. suspicious for malignancy or malignant morphology in biliary brushes and biopsies. In addition, changes in CDM after NGS outcome were evaluated. Results In total 109 samples of 106 patients were included in the study. NGS correctly identified 42 of the 75 malignancies (56%). Sensitivity and specificity of morphology for brushes were 56% (95% CI, 43–68%) and 94% (95% CI, 79–99%), respectively. Adding NGS resulted in a sensitivity and specificity of 78% (95% CI, 66–87%) and 94% (95% CI, 79–99%). For biopsies, the sensitivity and specificity of morphology were 67% (95% CI, 35–90%) and 67% (95% CI, 9–99%), adding NGS did not alter these results. The outcome of NGS resulted in a change of classification of morphology in 36% and a change in CDM in 8%. Conclusions NGS in brushes contributed to more accurate/sensitive diagnoses of malignancy than morphology alone. There was a limited impact on CDM change, but in the future NGS will undoubtedly play a bigger role when targeted therapy is incorporated in standard treatment and more sensitive NGS panels for cholangiocarcinoma are developed.http://www.thieme-connect.de/DOI/DOI?10.1055/a-2687-3552 |
| spellingShingle | Tina L.N. Meijering David Michaël de Jong Swip Draijer Marco Bruno H. J. Dubbink Jeroen de Jonge Marie-Louise F. van Velthuysen Lydi Van Driel Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures Endoscopy International Open |
| title | Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| title_full | Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| title_fullStr | Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| title_full_unstemmed | Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| title_short | Yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| title_sort | yield of next generation sequencing in diagnostic work up of suspicious biliary strictures |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2687-3552 |
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