Circulating Tumor DNA in Biliary Tract Cancer: Current Evidence and Future Perspectives

Rizzo, Alessandro; Ricci, Angela Dalia; Tavolari, Simona; Brandi, Giovanni

doi:10.21873/cgp.20203

Cited by 83 publications

(64 citation statements)

References 120 publications

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“…In terms of early diagnosis biomarkers, circulating markers (easily accessible through, for example, a non-invasive blood sampling) are the ones with most interest to be developed. In this context, liquid biopsy has been proposed as a promising noninvasive strategy to support early diagnosis during surveillance of higher risk patients [5,44]. However, very few data are currently available, and its clinical applicability has not been established.…”

Section: Diagnosis Biomarkersmentioning

confidence: 99%

Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients

García

Lamarca

Díaz

et al. 2020

Cancers

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Gallbladder cancer (GBC) is an aggressive disease that shows evident geographic variation and is characterized by a poor prognosis, mainly due to the late diagnosis and ineffective treatment. Genetic variants associated with GBC susceptibility, including polymorphisms within the toll-like receptors TLR2 and TLR4, the cytochrome P450 1A1 (CYP1A1), and the ATP-binding cassette (ABC) transporter ABCG8 genes, represent promising biomarkers for the stratification of patients at higher risk of GBC; thus, showing potential to prioritize cholecystectomy, particularly considering that early diagnosis is difficult due to the absence of specific signs and symptoms. Similarly, our better understanding of the gallbladder carcinogenic processes has led to identify several cellular and molecular events that may influence patient management, including HER2 aberrations, high tumor mutational burden, microsatellite instability, among others. Despite these reports on interesting and promising markers for risk assessment, diagnosis, and prognosis; there is an unmet need for reliable and validated biomarkers that can improve the management of GBC patients and support clinical decision-making. This review article examines the most potentially significant biomarkers of susceptibility, diagnosis, prognosis, and therapy selection for GBC patients, highlighting the need to find and validate existing and new molecular biomarkers to improve patient outcomes.

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Section: Diagnosis Biomarkersmentioning

confidence: 99%

Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients

García

Lamarca

Díaz

et al. 2020

Cancers

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“…The last decade has registered important advances in the understanding of the tumor biology of BTCs, as witnessed by the parallel development of novel treatment options and genomic sequencing, which has paved the way toward the identification of several possible therapeutic targets [ 13 , 14 , 15 ]. In fact, molecularly targeted therapies have been tested in BTC patients harboring specific druggable alterations, especially in iCCAs where agents targeting isocitrate dehydrogenase (IDH) mutations and fibroblast growth factor receptor (FGFR) aberrations have entered into clinical practice [ 16 , 17 , 18 , 19 , 20 , 21 , 22 ]; in addition, following the results observed in several hematological and solid malignancies, immune checkpoint inhibitors (ICIs) have been explored and are currently being investigated in BTC ( Table 1 ) [ 23 , 24 , 25 ]. However, most BTC patients receiving ICIs as a monotherapy or in combination with other anticancer agents do not achieve response, and the mechanisms behind the variations in the response to immunotherapy in this setting have been poorly studied [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

PD-L1, TMB, MSI, and Other Predictors of Response to Immune Checkpoint Inhibitors in Biliary Tract Cancer

Rizzo

Ricci

Brandi

2021

Cancers

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201

144

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Biliary tract cancer (BTC) represents the second most frequently diagnosed primary liver cancer worldwide following hepatocellular carcinoma, and the overall survival of patients with unresectable disease remains poor. In recent years, the advent of immune checkpoint inhibitors (ICIs) has revolutionized the therapeutic landscape of several malignancies with these agents, which have also been explored in advanced BTC, as monotherapy or in combination with other anticancer agents. However, clinical trials evaluating ICIs in BTC have shown conflicting results, and the clinical benefit provided by immunotherapy seems limited to a small subgroup of BTC patients. Thus, the identification of reliable predictors of the response to immunotherapy represents a significant challenge in this setting. This review provides an overview of the available evidence on the biomarkers predictive of the response to ICIs in patients with advanced BTC, especially focusing on programmed death-ligand 1 (PD-L1), tumor mutational burden (TMB), microsatellite instability (MSI), and other emerging biomarkers.

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“…The highly desmoplastic nature of BTC may limit the accuracy of cytological and pathological diagnosis. Meanwhile, genomic analyses, such as liquid biopsy, have been applied for the diagnosis of BTC [ 7 , 8 ]. Therefore, it is controversial whether the pathological diagnosis is or is not necessary, especially for patients with potentially resectable lesions.…”

Section: Introductionmentioning

confidence: 99%

Peroral Cholangioscopy-Guided Forceps Mapping Biopsy for Evaluation of the Lateral Extension of Biliary Tract Cancer

Onoyama

Hamamoto

Sakamoto

et al. 2021

JCM

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Background: Peroral cholangioscopy (POCS)-guided forceps mapping biopsy (FMB) is a method for the accurate preoperative identification of the extent of the disease of biliary tract cancer (BTC). However, the diagnostic value of POCS-FMB is still uncertain. Objectives: We evaluated the diagnostic utility of POCS-FMB for the identification of lateral extension—superficial intraductal spread longitudinally and continuously from the main lesion—of BTC. Methods: In the retrospective study, patients who received POCS-FMB and surgery for curative resection of BTC between September 2016 and August 2019 at our medical institution were enrolled. The diagnostic accuracy of POCS-FMB for the identification of lateral extension of BTC was evaluated. Furthermore, we also evaluated the factors affecting the diagnostic accuracy of POCS-FMB. Results: A total of 23 patients with BTC were enrolled, and 24 procedures of POCS-FMB from 96 sites of biliary tracts were performed. The sensitivity, specificity, and accuracy of POCS-FMB were 53.8%, 63.9%, and 63.1%, respectively. In the multivariate logistic regression analyses, the biopsy from the bifurcation of biliary tracts was a significant factor affecting the diagnostic accuracy of POCS-FMB (odds ratio 3.538, 95%; confidence interval 1.151–10.875, p = 0.027). Conclusions: The diagnostic accuracy of POCS-FMB for the identification of lateral extension of BTC was insufficient. The biopsy from the bifurcation of biliary tracts was a positive factor affecting the diagnostic accuracy of POCS-FMB.

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Circulating Tumor DNA in Biliary Tract Cancer: Current Evidence and Future Perspectives

Cited by 83 publications

References 120 publications

Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients

Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients

PD-L1, TMB, MSI, and Other Predictors of Response to Immune Checkpoint Inhibitors in Biliary Tract Cancer

Peroral Cholangioscopy-Guided Forceps Mapping Biopsy for Evaluation of the Lateral Extension of Biliary Tract Cancer

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