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Molecular profiling and prognostic analysis in Chinese cholangiocarcinoma: an observational, retrospective single-center study.
Zhang, Changkun; You, Xia; Zhang, Qin; Wang, Dong.
Afiliación
  • Zhang C; Department of Hepatobiliary Surgery, Peking University People's Hospital, Beijing, 100044, China.
  • You X; The Medical Department, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
  • Zhang Q; The Medical Department, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
  • Wang D; Department of Hepatobiliary Surgery, Peking University People's Hospital, Beijing, 100044, China. wangdong@pkuph.edu.cn.
Invest New Drugs ; 42(1): 24-34, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37975978
Cholangiocarcinoma (CCA) is a primary malignancy which is often diagnosed when it is advanced and inoperable due to the lack of effective biomarkers and poor sensitivity of clinical diagnosis. Molecular profiling may provide information for improved clinical management, particularly targeted therapy. The study aimed to improve the understanding of molecular characteristics and its association with prognosis in Chinese CCA. We enrolled 41 Chinese patients with CCA, including 6 intrahepatic CCA (iCCA), 14 perihilar CCA (pCCA), and 21 distal CCA (dCCA) cases, all patients underwent radical operations and tumor samples underwent next-generation sequencing (NGS) by Foundation One Dx, which analyzed 324 genes. The patients' genetic characteristics, clinical management, and prognosis were analyzed. The most mutated genes were TP53 (68%, 28/41), CDKN2A (37%, 15/41), and SMAD4 (29%, 12/41). The genetic mutations in dCCA, pCCA, and iCCA were significantly different. For example, NOTCH3 mutations were not found in dCCA. The gene mutations of AXL were specifically associated with lymph node metastasis in patients with CCA, whereas gene mutations of SMAD4 were specifically associated with lymphovascular invasion. Furthermore, mutations in APC, DAXX, FANCA, LTK, MAP2K4, and NOTCH1 were associated with a poor prognosis (P < 0.05). This study provides an overview of genetic alterations in Chinese patients with CCA, which will provide novel potential biomarkers for the diagnosis of CCA and may guide targeted therapeutic strategies for Chinese patients with CCA.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de los Conductos Biliares / Colangiocarcinoma Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Invest New Drugs Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
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 de los Conductos Biliares / Colangiocarcinoma Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Invest New Drugs Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos