The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation

(1) Background: Although the specificity of brush cytology for the detection of malignant pancreaticobiliary strictures is high, its sensitivity is low. Fluorescence in situ hybridization (FISH) can be used to detect chromosomal aneuploidy in biliary brushing specimens, and when used as an adjunct t...

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Main Authors: Jaffar Khan, Carlo De la Sancha, Mohammed Saad, Ahmad Alkashash, Asad Ullah, Fatimah Alruwaii, Luis Velasquez Zarate, Harvey M. Cramer, Howard H. Wu
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/12/10/2486
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author Jaffar Khan
Carlo De la Sancha
Mohammed Saad
Ahmad Alkashash
Asad Ullah
Fatimah Alruwaii
Luis Velasquez Zarate
Harvey M. Cramer
Howard H. Wu
author_facet Jaffar Khan
Carlo De la Sancha
Mohammed Saad
Ahmad Alkashash
Asad Ullah
Fatimah Alruwaii
Luis Velasquez Zarate
Harvey M. Cramer
Howard H. Wu
author_sort Jaffar Khan
collection DOAJ
description (1) Background: Although the specificity of brush cytology for the detection of malignant pancreaticobiliary strictures is high, its sensitivity is low. Fluorescence in situ hybridization (FISH) can be used to detect chromosomal aneuploidy in biliary brushing specimens, and when used as an adjunct to routine cytology, it significantly improves diagnostic sensitivity. (2) Methods: We searched our laboratory information system to identify all bile duct brush cytology cases with follow-up surgical pathology between January 2001 and September 2019. Cytologic diagnoses were classified as negative, atypical, suspicious, or malignant. Correlated surgical pathological diagnoses were classified as benign or malignant. FISH test results were obtained for a subset of cytology cases with concurrent FISH testing, and the sensitivity, specificity, positive predictive value, and negative predictive value in identifying malignancy for cytology alone, FISH alone, and combined cytology and FISH were calculated. (3) Results: A total of 1017 brushing cytology cases with histologic correlation were identified. A total of 193 FISH tests were performed concurrently with cytological specimens. Malignant diagnoses were identified in 623 of 1017 patients, while 394 patients had benign strictures. The sensitivity, specificity, positive predictive, and negative predictive rate were 65%, 78%, 83%, and 49% for cytology alone; 72%, 67%, 63%, and 68% for FISH alone; and 85%, 42%, 60%, and 74% for combined cytology and FISH, respectively. Among FISH-positive cases, the risk of malignancy for polysomy was 82% and 32% for trisomy. (4) Conclusions: FISH improves the sensitivity and negative predictive rate of bile duct brush cytology. The combination of cytology and FISH has increased the sensitivity from 65% to 85% and the negative predictive rate from 49% to 74% when compared to cytology alone. A patient with a polysomy FISH result had a significantly higher risk of malignancy than a patient with a trisomy 7 result (82% vs. 32%, <i>p</i> < 0.00001).
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spelling doaj.art-3c8bfccb9b3040a284b547807f5c595d2023-11-23T23:46:08ZengMDPI AGDiagnostics2075-44182022-10-011210248610.3390/diagnostics12102486The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic CorrelationJaffar Khan0Carlo De la Sancha1Mohammed Saad2Ahmad Alkashash3Asad Ullah4Fatimah Alruwaii5Luis Velasquez Zarate6Harvey M. Cramer7Howard H. Wu8Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADepartment of Pathology and Laboratory Medicine, Vanderbilt University, Nashville, TN 37232, USADepartment of Pathology and Laboratory Medicine, Henry Ford Health, Detroit, MI 48202, USADepartment of Pathology and Laboratory Medicine, Augusta University School of Medicine, Augusta, GA 30912, USADepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA(1) Background: Although the specificity of brush cytology for the detection of malignant pancreaticobiliary strictures is high, its sensitivity is low. Fluorescence in situ hybridization (FISH) can be used to detect chromosomal aneuploidy in biliary brushing specimens, and when used as an adjunct to routine cytology, it significantly improves diagnostic sensitivity. (2) Methods: We searched our laboratory information system to identify all bile duct brush cytology cases with follow-up surgical pathology between January 2001 and September 2019. Cytologic diagnoses were classified as negative, atypical, suspicious, or malignant. Correlated surgical pathological diagnoses were classified as benign or malignant. FISH test results were obtained for a subset of cytology cases with concurrent FISH testing, and the sensitivity, specificity, positive predictive value, and negative predictive value in identifying malignancy for cytology alone, FISH alone, and combined cytology and FISH were calculated. (3) Results: A total of 1017 brushing cytology cases with histologic correlation were identified. A total of 193 FISH tests were performed concurrently with cytological specimens. Malignant diagnoses were identified in 623 of 1017 patients, while 394 patients had benign strictures. The sensitivity, specificity, positive predictive, and negative predictive rate were 65%, 78%, 83%, and 49% for cytology alone; 72%, 67%, 63%, and 68% for FISH alone; and 85%, 42%, 60%, and 74% for combined cytology and FISH, respectively. Among FISH-positive cases, the risk of malignancy for polysomy was 82% and 32% for trisomy. (4) Conclusions: FISH improves the sensitivity and negative predictive rate of bile duct brush cytology. The combination of cytology and FISH has increased the sensitivity from 65% to 85% and the negative predictive rate from 49% to 74% when compared to cytology alone. A patient with a polysomy FISH result had a significantly higher risk of malignancy than a patient with a trisomy 7 result (82% vs. 32%, <i>p</i> < 0.00001).https://www.mdpi.com/2075-4418/12/10/2486bile duct brushingcytologyFISHpancreaticobiliary tract
spellingShingle Jaffar Khan
Carlo De la Sancha
Mohammed Saad
Ahmad Alkashash
Asad Ullah
Fatimah Alruwaii
Luis Velasquez Zarate
Harvey M. Cramer
Howard H. Wu
The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
Diagnostics
bile duct brushing
cytology
FISH
pancreaticobiliary tract
title The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
title_full The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
title_fullStr The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
title_full_unstemmed The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
title_short The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
title_sort role of fluorescence in situ hybridization in pancreatobiliary brushing cytology a large retrospective review with histologic correlation
topic bile duct brushing
cytology
FISH
pancreaticobiliary tract
url https://www.mdpi.com/2075-4418/12/10/2486
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