Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas
Background: KRAS and GNAS mutations are common in intraductal papillary mucinous neoplasia of the pancreas (IPMN). The aims of this study were to assess the role of pre-therapeutic cytopathology combined with KRAS and GNAS mutation assays within cystic fluid sampled by endoscopic ultrasound-guided f...
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Format: | Article |
Language: | English |
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Georg Thieme Verlag KG
2016-11-01
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Series: | Endoscopy International Open |
Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-117216 |
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author | Barbara Bournet Alix Vignolle-Vidoni David Grand Céline Roques Florence Breibach Jérome Cros Fabrice Muscari Nicolas Carrère Janick Selves Pierre Cordelier Louis Buscail |
author_facet | Barbara Bournet Alix Vignolle-Vidoni David Grand Céline Roques Florence Breibach Jérome Cros Fabrice Muscari Nicolas Carrère Janick Selves Pierre Cordelier Louis Buscail |
author_sort | Barbara Bournet |
collection | DOAJ |
description | Background: KRAS and GNAS mutations are common in intraductal papillary mucinous neoplasia of the pancreas (IPMN). The aims of this study were to assess the role of pre-therapeutic cytopathology combined with KRAS and GNAS mutation assays within cystic fluid sampled by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) to predict malignancy of IPMN.
Patients and methods: We prospectively included 37 IPMN patients with clinical and/or imaging predictors of malignancy (men: 24; mean age: 69.5 years). Cytopathology (performed on cystic fluid and/or IPMN nodules), KRAS (Exon 2, codon 12) and GNAS (Exon 8, codon 201) mutations assays (using TaqMan® allelic discrimination) were performed on EUS-FNA material. The final diagnosis was obtained from IPMN resections (n = 18); surgical biopsies, EUS-FNA analyses, and follow-up (n = 19): 10 and 27 IPMN were benign and malignant, respectively.
Results: Sensitivity, specificity, positive and negative predictive values, and accuracy of cytopathology alone to diagnose IPMN malignancy were 55 %, 100 %, 100 %, 45 %, and 66 %, respectively. When KRAS-mutation analysis was combined with cytopathology these values were 92 %, 50 %, 83 %, 71 %, and 81 %, respectively. GNAS assays did not improve the performances of cytopathology alone or those of cytopathology plus a KRAS assay.
Conclusions: In patients with a likelihood of malignant IPMN at pre-therapeutic investigation, testing for KRAS mutations in cystic fluid sampling by EUS-FNA improved the results of cytopathology for the diagnosis of malignancy whereas GNAS mutation assay did not. |
first_indexed | 2024-12-20T02:49:47Z |
format | Article |
id | doaj.art-7586aadef93c4cc99900377f27979cf3 |
institution | Directory Open Access Journal |
issn | 2364-3722 2196-9736 |
language | English |
last_indexed | 2024-12-20T02:49:47Z |
publishDate | 2016-11-01 |
publisher | Georg Thieme Verlag KG |
record_format | Article |
series | Endoscopy International Open |
spelling | doaj.art-7586aadef93c4cc99900377f27979cf32022-12-21T19:56:05ZengGeorg Thieme Verlag KGEndoscopy International Open2364-37222196-97362016-11-010412E1228E123510.1055/s-0042-117216Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreasBarbara Bournet0Alix Vignolle-Vidoni1David Grand2Céline Roques3Florence Breibach4Jérome Cros5Fabrice Muscari6Nicolas Carrère7Janick Selves8Pierre Cordelier9Louis Buscail10Department of Gastroenterology and INSERM UMR 1037, CHU Toulouse Rangueil, University of Toulouse, Toulouse, FranceINSERM UMR 1037, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceDepartment of Pathology, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceDepartment of Pathology, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceDepartment of Pathology, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceDepartment of Pathology, Beaujon Hospital, University of Paris Diderot, Clichy, FranceDepartment of Digestive Surgery, CHU Toulouse Rangueil, University of Toulouse, Toulouse, FranceINSERM UMR 1037, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceINSERM UMR 1037, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceINSERM UMR 1037, University Institute of Cancer of Toulouse, University of Toulouse, Toulouse, FranceDepartment of Gastroenterology and INSERM UMR 1037, CHU Toulouse Rangueil, University of Toulouse, Toulouse, FranceBackground: KRAS and GNAS mutations are common in intraductal papillary mucinous neoplasia of the pancreas (IPMN). The aims of this study were to assess the role of pre-therapeutic cytopathology combined with KRAS and GNAS mutation assays within cystic fluid sampled by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) to predict malignancy of IPMN. Patients and methods: We prospectively included 37 IPMN patients with clinical and/or imaging predictors of malignancy (men: 24; mean age: 69.5 years). Cytopathology (performed on cystic fluid and/or IPMN nodules), KRAS (Exon 2, codon 12) and GNAS (Exon 8, codon 201) mutations assays (using TaqMan® allelic discrimination) were performed on EUS-FNA material. The final diagnosis was obtained from IPMN resections (n = 18); surgical biopsies, EUS-FNA analyses, and follow-up (n = 19): 10 and 27 IPMN were benign and malignant, respectively. Results: Sensitivity, specificity, positive and negative predictive values, and accuracy of cytopathology alone to diagnose IPMN malignancy were 55 %, 100 %, 100 %, 45 %, and 66 %, respectively. When KRAS-mutation analysis was combined with cytopathology these values were 92 %, 50 %, 83 %, 71 %, and 81 %, respectively. GNAS assays did not improve the performances of cytopathology alone or those of cytopathology plus a KRAS assay. Conclusions: In patients with a likelihood of malignant IPMN at pre-therapeutic investigation, testing for KRAS mutations in cystic fluid sampling by EUS-FNA improved the results of cytopathology for the diagnosis of malignancy whereas GNAS mutation assay did not.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-117216 |
spellingShingle | Barbara Bournet Alix Vignolle-Vidoni David Grand Céline Roques Florence Breibach Jérome Cros Fabrice Muscari Nicolas Carrère Janick Selves Pierre Cordelier Louis Buscail Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas Endoscopy International Open |
title | Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
title_full | Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
title_fullStr | Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
title_full_unstemmed | Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
title_short | Endoscopic ultrasound-guided fine-needle aspiration plus KRAS and GNAS mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
title_sort | endoscopic ultrasound guided fine needle aspiration plus kras and gnas mutation in malignant intraductal papillary mucinous neoplasm of the pancreas |
url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-117216 |
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