Mutation Profile and Fluorescence In Situ Hybridization Analyses Increase Detection of Malignancies in Biliary Strictures

Abstract

Addition of FISH and mutation analyses to cytology analysis significantly increased the level of sensitivity with which we detected malignancy in biliary strictures, with 100% specificity. These techniques can be performed using standard brush samples collected during endoscopic retrograde cholangiopancreatography, with mutations detected in free DNA in supernatant fluid of samples. The tests are complementary and therefore should be used sequentially in the diagnostic evaluation of biliary strictures.

Review article: Asia‐Pacific consensus recommendations on endoscopic tissue acquisition for biliary strictures

“…The diagnosis of malignancy is commonly defined as the presence of at least 5 cells with polysomy of 2 or more chromosomes . Studies have shown that FISH, when combined with brush cytology, could further increase the overall diagnostic sensitivity for malignant biliary strictures . In several resent published studies, the diagnostic sensitivity and specificity of FISH for malignant biliary strictures ranged from 30.8% to 79%, and 91.67% to 100% respectively.…”

Cholangiocarcinoma — evolving concepts and therapeutic strategies

“…Diagnosing cholangiocarcinoma at an early stage remains a challenge owing to its ‘silent’ clinical character (most patients with early stage disease are asymptomatic), difficult to access anatomical location, and highly desmoplastic, paucicellular nature, which limits the sensitivity of cytological and pathological diagnostic approaches. Nonetheless, advanced cytological techniques, such as fluorescence in situ hybridization (FISH) and mutational analysis, have emerged as essential diagnostic modalities 7,8 .…”

Diagnostic yield and accuracy of a new cytology brush design compared to standard brush cytology for evaluation of biliary strictures

“…They found that the combination of cytology, MP, and FISH increased the sensitivity for the detection of malignancy from 32% (standard brush cytology alone) to 73% (P < .01) without decreasing specificity. 10 In a review of 73 cases with biliary strictures, FISH increased the sensitivity (63.4% vs. 39.5%) without decreasing specificity (94.3%) compared to brush cytology. Biliary biopsies had an increased sensitivity (84.2%) and specificity (100%) compared to brush cytology.…”

“…One prospective study of 100 patients examined the addition of fluorescence in situ hybridization (FISH) and polymerase chain reaction‐based DNA mutation profiling (MP) to standard brush cytology of biliary brushings. They found that the combination of cytology, MP, and FISH increased the sensitivity for the detection of malignancy from 32% (standard brush cytology alone) to 73% ( P < .01) without decreasing specificity . In a review of 73 cases with biliary strictures, FISH increased the sensitivity (63.4% vs. 39.5%) without decreasing specificity (94.3%) compared to brush cytology.…”