Update on cholangiocarcinoma: potential impact of genomic studies on clinical management

Walter, Dirk; Hartmann, Sven; Waidmann, Oliver

doi:10.1055/s-0043-102581

Cited by 29 publications

(24 citation statements)

References 83 publications

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“…Further, Nakamura described for the first time the FGFR2 fusion genes, exclusively detected in iCCA [8]. FGFR2 rearrangement is the most common type of FGFR aberration with prevalence 14%-23% and occurring almost invariably in iCCA [35][36][37]. BICC1 is the most frequent FGFR2 rearrangement partner (29.7%) [38] whereas, confirming findings from prior studies of whole-genome and targeted exon sequencing of iCCA [8,39], FGR2 translocation has been reported as mutually exclusive with IDH1 mutations [35].…”

Section: Intrahepatic Cholangiocarcinomasupporting

confidence: 72%

Biliary Tract Cancers: Molecular Heterogeneity and New Treatment Options

Personeni

Lleo

Pressiani

et al. 2020

Cancers

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Most patients with biliary tract cancer (BTC) are diagnosed with advanced disease, relapse rates are high in those undergoing surgery and prognosis remains poor, while the incidence is increasing. Treatment options are limited, and chemotherapy is still the standard of care in both adjuvant and advanced disease setting. In recent years, different subtypes of BTC have been defined depending on the anatomical location and genetic and/or epigenetic aberrations. Especially for intrahepatic cholangiocarcinoma (iCCA) novel therapeutic targets have been identified, including fibroblast growth factor receptor 2 gene fusions and isocitrate dehydrogenase 1 and 2 mutations, with molecularly targeted agents having shown evidence of activity in this subgroup of patients. Additionally, other pathways are being evaluated in both iCCA and other subtypes of BTC, alongside targeting of the immune microenvironment. The growing knowledge of BTC biology and molecular heterogeneity has paved the way for the development of new therapeutic approaches that will completely change the treatment paradigm for this disease in the near future. This review provides an overview of the molecular heterogeneity of BTC and summarizes new targets and emerging therapies in development. We also discuss resistance mechanisms, open issues, and future perspectives in the management of BTC.

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Section: Intrahepatic Cholangiocarcinomasupporting

confidence: 72%

Biliary Tract Cancers: Molecular Heterogeneity and New Treatment Options

Personeni

Lleo

Pressiani

et al. 2020

Cancers

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“…38 Other mutations that have been found at an increased rate in ICC include PTEN, IDH1, IDH2, ARID1A, and PBRM1. [38][39][40] Radiomic investigations have delineated some distinguishing image features of ICC. A 32 patient study was used to show that the degree of enhancement on delayed phase CT could be a useful prognosticator for ICC.…”

Section: Intrahepatic Cholangiocarcinomamentioning

confidence: 99%

“…Simile et al, Walter et al, and Rizvi et al [38][39][40] • Mutations in PTEN, IDH1/2, ARID1A, and PBRM1. tissue samples.…”

Section: Sourcementioning

confidence: 99%

Genomics and Interventional Oncology in Primary Liver Cancer

Slovak

Case

2020

Dig Dis Interv

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Personalized medicine is revolutionizing oncologic care. Molecular and imaging “fingerprinting” of cancer through genomics, radiomics, and radiogenomics has allowed for the meticulous characterization of many forms of malignancy, including primary liver cancers. With this data, treatments are being developed that precisely target and exploit key variations in individual tumors. As these methods continue to evolve, interventional oncologists are well positioned to capitalize on the advances being made. This article will provide a concise overview of the genomic, radiomic, and radiogenomic research on hepatocellular carcinoma and intrahepatic cholangiocarcinoma, in addition to discussions on how precision medicine would relate to interventional oncology.

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“…Интересно, что дикий тип KRAS совместно с мутацией IDH1 / 2 ассоциирован с более высокой медианой ОВ: 28,2 месяца по сравнению с 11,6 месяцами для дикого типа (р= 0,025). Для внепеченочных опухолей наиболее характерны мутации PI3KCA и BRAF [34], которые являются перспективной мишенью для дальнейшего изучения [35]. Терапия ингибиторами BRAF+MEK, а также комбинацией BRAF+MEK+anti-EGFR -ингибиторами в ряде случаев у пациентов с выявленной мутацией гена BRAF позволило значительно улучшить контроль над опухолью и увеличить выживаемость [54].…”

Section: место таргетной терапии в лечении метастатического билиарногunclassified

Practical aspects of modern antineoplastic therapy in locally advanced and metastatic biliary tract cancer

Бредер¹,

Крутелева²,

Kazantseva³

et al. 2019

Malignant Tumours

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Резюме: Несмотря на то, что рак желчного пузыря и желчных протоков является достаточно редким заболеванием, он представляет собой значимую проблему современной онкологии. Хирургическое лечение в адекватном объеме-единственный метод, способный дать шанс на выздоровление для небольшой части больных с ранними стадиями заболевания. Возможности лекарственной терапии билиарного рака ограничены невысокой эффективностью узкого перечня используемых цитостатиков. Добавление химиотерапии мало отражается на отдаленных результатах хирургии и других методов локального воздействия. Перспективы в лечении этой группы больных видятся в области изучения таргетной терапии и ее комбинации со стандартной цитотоксической терапией, а также в возможном влиянии на иммунный противоопухолевый ответ, что обусловливает поиск предикторов эффективности иммунотерапии. Целью этого обзора является рассмотрение практических возможностей лекарственной терапии билиарного рака, освещение исследований, направленных на поиск молекулярно-генетических мишеней и эффективных комбинаций уже существующих препаратов и возможное применение полученных результатов в практике.

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Update on cholangiocarcinoma: potential impact of genomic studies on clinical management

Cited by 29 publications

References 83 publications

Biliary Tract Cancers: Molecular Heterogeneity and New Treatment Options

Biliary Tract Cancers: Molecular Heterogeneity and New Treatment Options

Genomics and Interventional Oncology in Primary Liver Cancer

Practical aspects of modern antineoplastic therapy in locally advanced and metastatic biliary tract cancer

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