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Cell-free DNA from bile outperformed plasma as a potential alternative to tissue biopsy in biliary tract cancer.
Gou, Q; Zhang, C Z; Sun, Z H; Wu, L G; Chen, Y; Mo, Z Q; Mai, Q C; He, J; Zhou, Z X; Shi, F; Cui, W; Zou, W; Lv, L; Zhuang, W H; Xu, R D; Li, W K; Zhang, J; Du, H W; Xiang, J X; Wang, H Z; Hou, T; Li, S T; Li, Y; Chen, X M; Zhou, Z J.
Afiliación
  • Gou Q; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Zhang CZ; Department of General Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Sun ZH; Department of Surgery, The First Affiliated Hospital of Medicine of Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
  • Wu LG; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Chen Y; Department of Pathology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, School of Medicine, Guangzhou, Guangdong, China.
  • Mo ZQ; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Mai QC; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • He J; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Zhou ZX; Department of General Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Shi F; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Cui W; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Zou W; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Lv L; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Zhuang WH; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Xu RD; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Li WK; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Zhang J; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
  • Du HW; Burning Rock Biotech, Guangzhou, China.
  • Xiang JX; Burning Rock Biotech, Guangzhou, China.
  • Wang HZ; Burning Rock Biotech, Guangzhou, China.
  • Hou T; Burning Rock Biotech, Guangzhou, China.
  • Li ST; Burning Rock Biotech, Guangzhou, China.
  • Li Y; Burning Rock Biotech, Guangzhou, China.
  • Chen XM; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China. Electronic address: cjr.chenxiaoming@vip.163.com.
  • Zhou ZJ; Department of Interventional Therapy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China. Electronic address: zhzejian@126.com.
ESMO Open ; 6(6): 100275, 2021 12.
Article en En | MEDLINE | ID: mdl-34653800
BACKGROUND: Biliary tract cancers (BTCs) are rare and highly heterogenous malignant neoplasms. Because obtaining BTC tissues is challenging, the purpose of this study was to explore the potential roles of bile as a liquid biopsy medium in patients with BTC. PATIENTS AND METHODS: Sixty-nine consecutive patients with suspected BTC were prospectively enrolled in this study. Capture-based targeted sequencing was performed on tumor tissues, whole blood cells, plasma, and bile samples using a large panel consisting of 520 cancer-related genes. RESULTS: Of the 28 patients enrolled in this cohort, tumor tissues were available in eight patients, and plasma and bile were available in 28 patients. Somatic mutations were detected in 100% (8/8), 71.4% (20/28), and 53.6% (15/28) of samples comprising tumor tissue DNA, bile cell-free DNA (cfDNA), and plasma cfDNA, respectively. Bile cfDNA showed a significantly higher maximum allele frequency than plasma cfDNA (P = 0.0032). There were 56.2% of somatic single-nucleotide variant (SNVs)/insertions and deletions (indels) shared between bile and plasma cfDNA. When considering the genetic profiles of tumor tissues as the gold standard, the by-variant sensitivity and positive predictive value for SNVs/indels in bile cfDNA positive for somatic mutations were both 95.5%. The overall concordance for SNVs/indels in bile was significantly higher than that in plasma (99.1% versus 78.3%, P < 0.0001). Moreover, the sensitivity of CA 19-9 combined with bile cfDNA achieved 96.4% in BTC diagnosis. CONCLUSION: We demonstrated that bile cfDNA was superior to plasma cfDNA in the detection of tumor-related genomic alterations. Bile cfDNA as a minimally invasive liquid biopsy medium might be a supplemental approach to confirm BTC diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias del Sistema Biliar / Ácidos Nucleicos Libres de Células Límite: Humans Idioma: En Revista: ESMO Open Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias del Sistema Biliar / Ácidos Nucleicos Libres de Células Límite: Humans Idioma: En Revista: ESMO Open Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido