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Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.

ABSTRACT: BACKGROUND:Identification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family. AIM:To assess the referral pathways for genetic consultations in PDAC. METHODS:Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria. RESULTS:Four-hundred patients were eligible. Of 113 patients (28.3%) meeting EUROPAC criteria, 8.8% were referred for genetic opinion. Germ-line mutations were identified in 0.75% of the whole population. CONCLUSION:Earlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments.

SUBMITTER: Fulton AJ

PROVIDER: S-EPMC6379756 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.

Fulton Alexander Jp AJ Lamarca Angela A Nuttall Christina C McCallum Lynne L Pihlak Rille R O'Reilly Derek D Lalloo Fiona F McNamara Mairéad G MG Hubner Richard A RA Clancy Tara T Valle Juan W JW

World journal of gastrointestinal oncology 20190201 2

<h4>Background</h4>Identification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family.<h4>Aim</h4>To assess the referral pathways for genetic consultations in PDAC.<h4>Methods</h4>Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria.<h4>Results</h4>Four-hundred pa ...[more]

PMID: 30788038

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Project description:BackgroundThe impact of KRAS mutation testing on pancreatic ductal adenocarcinoma (PDAC) samples by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) for reducing the need to repeat EUS-FNA has been demonstrated. Such testing however is not part of standard practice for endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB).ObjectivesWe aim to analyse the proportion of non-contributive samples by EUS-FNB and to evaluate the impact of KRAS mutation testing on the diagnosis, theranostics and survival.DesignIn this retrospective study, the impact on diagnosis and survival of KRAS testing for contributive and non-contributive samples by EUS-FNB was analysed.MethodsThe EUS-FNB samples, combined with KRAS testing using the Idylla® technique on liquid-based cytology from patients with PDAC between February 2019 and May 2023, were retrospectively reviewed. The cytology results were classified according to the guidelines of the World Health Organization System for Reporting Pancreaticobiliary Cytopathology (WHOSRPC).ResultsA total of 85 EUS-FNB specimens were reviewed. In all, 25 EUS-FNB samples did not lead to a formal diagnosis of PDAC according to the WHOSRPC (30.2%). Out of these 25, 11 (44%) could have been considered positive for a PDAC diagnosis thanks to the KRAS mutation test without carrying out further diagnosis procedures. The sensitivity of KRAS mutation testing using the Idylla technique was 98.6%. According to the available data, survival rates were not statistically different depending on the type of mutation.ConclusionKRAS mutation testing on liquid-based cytology using the Idylla or equivalent technique, combined with the PDAC EUS-FNB sample, should become a standard for diagnosis to avoid delaying treatment by doing another biopsy. Furthermore, knowledge of the KRAS status from treatment initiation could be used to isolate mutations requiring targeted treatments or inclusion in clinical research trials, especially for wild-type KRAS PDAC.

Dataset Information

Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.

Publications

Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.

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