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...

Full description

Bibliographic Details
Main Authors: Barbara Bournet, Alix Vignolle-Vidoni, David Grand, Céline Roques, Florence Breibach, Jérome Cros, Fabrice Muscari, Nicolas Carrère, Janick Selves, Pierre Cordelier, Louis Buscail
Format: Article
Language:English
Published: Georg Thieme Verlag KG 2016-11-01
Series:Endoscopy International Open
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-117216
_version_ 1830358885523783680
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
work_keys_str_mv AT barbarabournet endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT alixvignollevidoni endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT davidgrand endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT celineroques endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT florencebreibach endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT jeromecros endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT fabricemuscari endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT nicolascarrere endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT janickselves endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT pierrecordelier endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas
AT louisbuscail endoscopicultrasoundguidedfineneedleaspirationpluskrasandgnasmutationinmalignantintraductalpapillarymucinousneoplasmofthepancreas