Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less

Nikas, Ilias P.; Mountzios, Giannis; Sydney, Guy I.; Ioakim, Kalliopi J; Won, Jae Kyung; Papageorgis, Panagiotis

doi:10.3390/cancers14020397

Cited by 12 publications

(8 citation statements)

References 144 publications

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“…In our previous study and other literature the accuracy of cytology is around 70% [ 7 , 8 ]. Moreover in this study’s difficult-to-diagnose population the accuracy of cytology was only 17%, further supporting the possibility to integrate NGS in the diagnostic work-up for a more personalized management [ 9 ]. One major challenge in the diagnostic work-up of pancreatic lesions is the management of pancreatic cysts and IPMN in particular.…”

Section: Discussionmentioning

confidence: 73%

Targeted next-generation sequencing has incremental value in the diagnostic work-up of patients with suspect pancreatic masses; a multi-center prospective cross sectional study

et al. 2023

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Background The diagnostic process of patients with suspect pancreatic lesions is often lengthy and prone to repeated diagnostic procedures due to inconclusive results. Targeted Next-Generation Sequencing (NGS) performed on cytological material obtained with fine needle aspiration (FNA) or biliary duct brushing can speed up this process. Here, we study the incremental value of NGS for establishing the correct diagnosis, and subsequent treatment plan in patients with inconclusive diagnosis after regular diagnostic work-up for suspect pancreatic lesions. Methods In this prospective cross-sectional cohort study, patients were screened for inclusion in four hospitals. NGS was performed with AmpliSeq Cancer Hotspot Panel v2 and v4b in patients with inconclusive cytology results or with an uncertain diagnosis. Diagnostic results were evaluated by the oncology pancreatic multidisciplinary team. The added value of NGS was determined by comparing diagnosis (malignancy, cystic lesion or benign condition) and proposed treatment plan (exploration/resection, neoadjuvant chemotherapy, follow-up, palliation or repeated FNA) before and after integration of NGS results. Final histopathological analysis or a 6-month follow-up period were used as the reference standard in case of surgical intervention or non-invasive treatment, respectively. Results In 50 of the 53 included patients, cytology material was sufficient for NGS analysis. Diagnosis before and after integration of NGS results differed in 24% of the patients. The treatment plan was changed in 32% and the diagnosis was substantiated by the NGS data in 44%. Repetition of FNA/brushing was prevented in 14% of patients. All changes in treatment plan were correctly made after integration of NGS. Integration of NGS increased overall diagnostic accuracy from 68% to 94%. Interpretation This study demonstrates the incremental diagnostic value of NGS in patients with an initial inconclusive diagnosis. Integration of NGS results can prevent repeated EUS/FNA, and can also rigorously change the final diagnosis and treatment plan.

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Section: Discussionmentioning

confidence: 73%

Targeted next-generation sequencing has incremental value in the diagnostic work-up of patients with suspect pancreatic masses; a multi-center prospective cross sectional study

et al. 2023

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“…Recently, liquid biopsy testing of blood and other body-fluid specimens has been developed as a new analytic method [ 27 , 28 , 29 ], and the F-One Liquid CDx Cancer Genome Profile [ 30 ] test for blood specimens is now covered by insurance programs in Japan. Although the liquid biopsy test is very useful for pancreaticobiliary cancers, for which the collection of samples for genetic testing is difficult, its sensitivity for detecting KRAS abnormalities is lower than that of the test using tumor tissue specimens [ 31 ], and tumor tissue specimens are superior in terms of certainty.…”

Section: Results Of Genomic Medicine Using Eus-ta In Pancreaticobilia...mentioning

confidence: 99%

Endoscopic Ultrasound-Guided Tissue Acquisition of Pancreaticobiliary Cancer Aiming for a Comprehensive Genome Profile

Hijioka¹,

Nagashio²,

Maruki³

et al. 2023

Diagnostics

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In recent years, cancer genomic medicine centered on comprehensive genome profile (CGP) analysis has become widely used in the field of pancreatic cancer. Endoscopic ultrasound-guided tissue acquisition (EUS-TA) has played an important role in pancreatic cancer, and recently, more EUS-TA tissue samples are considered for CGP analysis. Differences exist between the Oncoguide NCC Oncopanel System and Foundation One CDx Cancer Genome Profile, which are CGP tests approved by insurance programs in Japan, including the analysis criteria, optimal needle selection for meeting these criteria, and puncture target. It is important to understand not only the specimen collection factors, but also the specimen processing factors that can increase the success rate of CGP testing. Furthermore, cancer genome medicine is expected to enter an era of increasing turbulence in the future, and endoscopists need to respond flexibly to these changes. Herein, we review the current status of cancer genome medicine in pancreatic and biliary tract cancers and cancer gene panel testing using EUS-TA.

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“…However, we recommend a 10 μm thickness not only for quantity but also for quality, as previously reported 21 . In addition, the problem of sequencing failure due to quantity is similar to that of the example of other than lung cancer 22,23 . Our proposed SVA method has the potential to improve the success ratio of sequencing tests of small, biopsied samples.…”

Section: Discussionmentioning

confidence: 99%

Proposal of a novel pipeline involving precise bronchoscopy of distal peripheral pulmonary lesions for genetic testing

Takata

Miyake

Maeda

et al. 2022

Sci Rep

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Next-generation sequencing (NGS) has become increasingly more important for lung cancer management. We now expect biopsies to be sensitive, safe, and yielding sufficient samples for NGS. In this study, we propose ultraselective biopsy (USB) with sample volume adjustment (SVA) as a novel method that integrates an ultrathin bronchoscope, radial probe endobronchial ultrasound, and the direct oblique method for ultraselective navigation, and adjustment of sample volume for NGS. Our purpose was to estimate the diagnostic potential and the applicability of USB-SVA for amplicon-based NGS analysis. The diagnostic yield of bronchoscopy in forty-nine patients with malignant peripheral pulmonary lesions (PPLs) was retrospectively analyzed, and amplicon-based NGS analysis was performed on samples from some patients using USB. The diagnostic yields of distal PPLs in the USB group were significantly higher than those in the non-USB group (90.5% vs. 50%, respectively, p = 0.015). The extracted amounts of nucleic acids were at least five times the minimum requirement and the sequence quality met the criteria for the Oncomine™ Target Test. Only the tumor cell content of some samples was insufficient. The feasibility of the pipeline for USB, SVA, and amplicon-based NGS in distal PPLs was demonstrated.

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Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less

Cited by 12 publications

References 144 publications

Targeted next-generation sequencing has incremental value in the diagnostic work-up of patients with suspect pancreatic masses; a multi-center prospective cross sectional study

Targeted next-generation sequencing has incremental value in the diagnostic work-up of patients with suspect pancreatic masses; a multi-center prospective cross sectional study

Endoscopic Ultrasound-Guided Tissue Acquisition of Pancreaticobiliary Cancer Aiming for a Comprehensive Genome Profile

Proposal of a novel pipeline involving precise bronchoscopy of distal peripheral pulmonary lesions for genetic testing

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