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

Autor: Scheid JF; Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts., Rosenbaum MW; Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts., Przybyszewski EM; Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts., Krishnan K; Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts., Forcione DG; Boca Raton Regional Hospital, Boca Raton, Florida., Iafrate AJ; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Staller KD; Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts., Misdraji J; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Lennerz JK; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Pitman MB; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Pratt DS; Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts.; Autoimmune and Cholestatic Liver Center, Massachusetts General Hospital, Boston, Massachusetts.
Jazyk: angličtina
Zdroj: Cancer cytopathology [Cancer Cytopathol] 2022 Mar; Vol. 130 (3), pp. 215-230. Date of Electronic Publication: 2021 Nov 02.
DOI: 10.1002/cncy.22528
Abstrakt: Background: Primary sclerosing cholangitis (PSC) is a well-described risk factor for the development of cholangiocarcinoma (CCA). Early detection of CCA in these patients is of great importance because it expands options for therapeutic interventions, including liver transplantation. Current diagnostic tests for the evaluation of biliary strictures are limited to biliary brushing (BB) cytology and fluorescence in situ hybridization (FISH). Next-generation sequencing (NGS) has become an important diagnostic tool in oncology and may be a useful tool for diagnosing CCA on BBs. It is not clear how NGS performs when it is added to BB cytology and FISH in patients with PSC.
Methods: This study reports the authors' experience with NGS performed as a prospective cotest with cytology and FISH on BBs obtained from 60 patients with PSC followed at Massachusetts General Hospital. A duct with malignancy was defined as a high-risk (HR) stricture with either high-grade dysplasia or CCA.
Results: NGS was better than FISH and cytology in detecting HR strictures, which showed multiple genetic mutations in all cases. NGS provided specific mutational information, and NGS results were reproducible in longitudinal samples.
Conclusions: Adding NGS to BB cytology and FISH in the evaluation of biliary strictures for patients with PSC may provide additional information that could help to inform clinical management.
(© 2021 American Cancer Society.)
Databáze: MEDLINE
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