Next‐generation sequencing in the evaluation of biliary strictures in patients with primary sclerosing cholangitis

2021 ◽  
Author(s):  
Johannes F. Scheid ◽  
Matthew W. Rosenbaum ◽  
Eric M. Przybyszewski ◽  
Kumar Krishnan ◽  
David G. Forcione ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Sclerosing Cholangitis ◽  
Sclerosing Cholangitis ◽  
Next Generation ◽  
Biliary Strictures ◽  
Generation Sequencing

Next-Generation Sequencing Improves the Detection of Malignant Biliary Strictures: A Prospective Study of 62 Bile Duct Brushings/Biopsies

2017 ◽  
Vol 152 (5) ◽  
pp. S296
Author(s):  
Aatur Singhi ◽  
Herbert J. Zeh ◽  
Marina N. Nikiforova ◽  
Jennifer S. Chennat ◽  
Asif Khalid ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Bile Duct ◽  
Prospective Study ◽  
Next Generation ◽  
Biliary Strictures ◽  
A Prospective Study ◽  
Generation Sequencing

scholarly journals The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

2018 ◽  
Vol 21 (2) ◽  
pp. 49-53 ◽  
Author(s):  
B Smolović ◽  
D Muhović ◽  
A Hodžić ◽  
G Bergant ◽  
B Peterlin
Keyword(s):  
Differential Diagnosis ◽  
Chronic Hepatitis ◽  
Next Generation Sequencing ◽  
Sclerosing Cholangitis ◽  
Next Generation ◽  
Diagnostic Challenge ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Caroli’S Syndrome

Abstract We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli’s disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 (PKHD1) gene, c.370C>T (p.Arg124Ter) and c.4870C>T (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies.

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

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