Patients with biliary tract cancer who have difficulty collecting tissue samples, suggest alternatives to liquid biopsy
Oct 29, 2024
Cha Medical University Bundang Cha Hospital (Director Yoon Sang-wook) Cancer Center Blood Oncology Department Jeon Hong-jae, Professor Kim Chan and Professor Hwang Woo-hyun of Pathology, and a master's research team at Cha Medical University's Medical Life Sciences Department published the results of a study on the possibility that liquid biopsy (blood test) can replace tissue-based analysis in patients with biliary tract cancer (BTC). The study was published in the latest issue of the international journal 『Journal of Hepatology』 specializing in liver biliary tract.
Professor Jeon Hong-jae's research team conducted a study from January 2019 to December 2022 on 102 patients with advanced biliary tract cancer who did not receive chemotherapy at Bundang Cha Hospital using the Alpha Liquid 100 platform that enables solid cancer genetic testing. Biliary tract cancer can be treated with various targeted treatments depending on whether or not there is a gene mutation, so genetic analysis is required according to the treatment guidelines.
The research team analyzed circulating tumor DNA (CTDNA), a tumor DNA present in the blood, along with tissue-based next-generation sequencing (NGS), a standard test for patients with biliary tract cancer. Analysis through ctDNA blood tests and biopsy also evaluated how consistent the genetic analysis was.
As a result, the sensitivity of the ctDNA blood test was 84.8% and the positive predictive value was 79.4%. By ctDNA analysis, we found gene mutations with potential for treatment with therapeutic agents in 34.3% of all patients. In particular, it is of great significance that we found IDH1 mutations that were not identified in the existing tissue-based NGS panel (how to examine the tissue), and new FGFR2-TNS1 fusion mutations that were technically not found in the tissue-based NGS panel were found in ctDNA blood analysis.
This study is the first in Asia to confirm on a large scale that ctDNA blood test-based genome profiling showed a significant level of agreement with existing biopsy in patients with advanced biliary tract cancer in Asia. In particular, higher concordance than conventional biopsies for IDH1 mutations and FGFR2 fusion mutations suggests that liquid biopsies are an important alternative that can complement tissue-based genome analysis.
Professor Hong-jae Jeon said, "This study confirms that ctDNA-based liquid biopsy can be an important alternative for patients with biliary tract cancer whose tissue-based analysis is difficult, and it is a meaningful study that marks an important milestone in the treatment of biliary tract cancer." Liquid biopsy will play an important role in personalized treatment of biliary tract cancer."
In addition, patients with biliary tract cancer with high maximum somatic variable allele frequency (MaxVAF) in ctDNA presented significantly poor prognosis in both overall survival (OS) and progression-free survival (PFS) after gemcitabin/cisplatin-based chemotherapy. MaxVAF is an indicator of the progression of tumors as to how spread in the blood, which is an important advantage of ctDNA-based analysis.
This study was conducted with the support of the Ministry of Science and ICT and the Korea Research Foundation's mid-sized research support project and the university-focused research institute support project.
Professor Jeon Hong-jae's research team conducted a study from January 2019 to December 2022 on 102 patients with advanced biliary tract cancer who did not receive chemotherapy at Bundang Cha Hospital using the Alpha Liquid 100 platform that enables solid cancer genetic testing. Biliary tract cancer can be treated with various targeted treatments depending on whether or not there is a gene mutation, so genetic analysis is required according to the treatment guidelines.
The research team analyzed circulating tumor DNA (CTDNA), a tumor DNA present in the blood, along with tissue-based next-generation sequencing (NGS), a standard test for patients with biliary tract cancer. Analysis through ctDNA blood tests and biopsy also evaluated how consistent the genetic analysis was.
As a result, the sensitivity of the ctDNA blood test was 84.8% and the positive predictive value was 79.4%. By ctDNA analysis, we found gene mutations with potential for treatment with therapeutic agents in 34.3% of all patients. In particular, it is of great significance that we found IDH1 mutations that were not identified in the existing tissue-based NGS panel (how to examine the tissue), and new FGFR2-TNS1 fusion mutations that were technically not found in the tissue-based NGS panel were found in ctDNA blood analysis.
This study is the first in Asia to confirm on a large scale that ctDNA blood test-based genome profiling showed a significant level of agreement with existing biopsy in patients with advanced biliary tract cancer in Asia. In particular, higher concordance than conventional biopsies for IDH1 mutations and FGFR2 fusion mutations suggests that liquid biopsies are an important alternative that can complement tissue-based genome analysis.
Professor Hong-jae Jeon said, "This study confirms that ctDNA-based liquid biopsy can be an important alternative for patients with biliary tract cancer whose tissue-based analysis is difficult, and it is a meaningful study that marks an important milestone in the treatment of biliary tract cancer." Liquid biopsy will play an important role in personalized treatment of biliary tract cancer."
In addition, patients with biliary tract cancer with high maximum somatic variable allele frequency (MaxVAF) in ctDNA presented significantly poor prognosis in both overall survival (OS) and progression-free survival (PFS) after gemcitabin/cisplatin-based chemotherapy. MaxVAF is an indicator of the progression of tumors as to how spread in the blood, which is an important advantage of ctDNA-based analysis.
This study was conducted with the support of the Ministry of Science and ICT and the Korea Research Foundation's mid-sized research support project and the university-focused research institute support project.
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