{"title":"Genetic Assessment of Intraductal Papillary Mucinous Neoplasm for Predicting Concomitant Pancreatic Ductal Adenocarcinoma.","authors":"Hideyuki Oi, Yuto Hozaka, Toshiaki Akahane, Kosuke Fukuda, Tetsuya Idichi, Kiyonori Tanoue, Yoichi Yamasaki, Yota Kawasaki, Yuko Mataki, Hiroshi Kurahara, Michiyo Higashi, Akihide Tanimoto, Takao Ohtsuka","doi":"10.1097/MPA.0000000000002373","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>The role of Krüppel-like transcription factor 4 ( KLF4 ) mutations in IPMNs with concomitant pancreatic ductal adenocarcinoma (PDAC) remains unclear. This study clarified the rate and effect of KLF4 mutations in IPMN with concomitant PDAC.</p><p><strong>Materials and methods: </strong>DNA was extracted from 65 formalin-fixed and paraffin-embedded samples from 52 patients including 13 IPMNs with concomitant PDAC and 39 IPMNs alone. A comprehensive screening using next-generation sequencing and then targeted sequencing for KLF4 , GNAS , and KRAS mutations were performed.</p><p><strong>Results: </strong>In next-generation sequencing screening, KRAS mutations were observed in all samples except for one, GNAS mutation in 2 IPMNs with concomitant PDAC, and a KLF4 mutation in 1 IPMN with concomitant PDAC. Targeted sequence detected KLF4 mutations in 11 of the 52 IPMNs. Concomitant PDAC developed only in the nonintestinal, noninvasive, and branch-duct IPMNs, and KLF4 mutations were more frequent in this IPMN type than in the other type. For this IPMN type with KLF4 mutation, PDAC-prediction sensitivity, specificity, and accuracy were 63%, 82%, and 79%, respectively.</p><p><strong>Conclusion: </strong>For selected IPMNs with nonintestinal, noninvasive, and branch-duct, genetic assessment might be helpful for predicting the possible development of concomitant PDAC, although a prospective validation study using a larger study population is needed.</p>","PeriodicalId":19733,"journal":{"name":"Pancreas","volume":" ","pages":"e790-e795"},"PeriodicalIF":1.7000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pancreas","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MPA.0000000000002373","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/15 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Objective: The role of Krüppel-like transcription factor 4 ( KLF4 ) mutations in IPMNs with concomitant pancreatic ductal adenocarcinoma (PDAC) remains unclear. This study clarified the rate and effect of KLF4 mutations in IPMN with concomitant PDAC.
Materials and methods: DNA was extracted from 65 formalin-fixed and paraffin-embedded samples from 52 patients including 13 IPMNs with concomitant PDAC and 39 IPMNs alone. A comprehensive screening using next-generation sequencing and then targeted sequencing for KLF4 , GNAS , and KRAS mutations were performed.
Results: In next-generation sequencing screening, KRAS mutations were observed in all samples except for one, GNAS mutation in 2 IPMNs with concomitant PDAC, and a KLF4 mutation in 1 IPMN with concomitant PDAC. Targeted sequence detected KLF4 mutations in 11 of the 52 IPMNs. Concomitant PDAC developed only in the nonintestinal, noninvasive, and branch-duct IPMNs, and KLF4 mutations were more frequent in this IPMN type than in the other type. For this IPMN type with KLF4 mutation, PDAC-prediction sensitivity, specificity, and accuracy were 63%, 82%, and 79%, respectively.
Conclusion: For selected IPMNs with nonintestinal, noninvasive, and branch-duct, genetic assessment might be helpful for predicting the possible development of concomitant PDAC, although a prospective validation study using a larger study population is needed.
期刊介绍:
Pancreas provides a central forum for communication of original works involving both basic and clinical research on the exocrine and endocrine pancreas and their interrelationships and consequences in disease states. This multidisciplinary, international journal covers the whole spectrum of basic sciences, etiology, prevention, pathophysiology, diagnosis, and surgical and medical management of pancreatic diseases, including cancer.