Target molecular treatment markers in Intrahepatic Cholangiocarcinoma based on Chinese population |
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| Affiliation: | 1. Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Jiangsu Province, China;2. Department of Blood Purification Center, Huan’an FirstPeople’s Hospital, Nanjing Medical University, Jiangsu Province, China;3. Department of Radiology, Xiangyang Central Hospital, Affiliated Hospital of Hubei University ofArts and Science, Hubei Province, China;4. Department of Radiology, The First Affiliated Hospital of Nanjing Medical University;1. Key Laboratory of Environmental Medicine Engineering, Ministry of Education, School of Public Health, Southeast University, Nanjing, Jiangsu 210009, PR China;2. Department of Environmental Occupational Health, Taizhou Center for Disease Control and Prevention, No.318 Yongtai Road, Hailing District, Taizhou City, Jiangsu Province, PR China;1. Department of Anesthesiology, The 2nd Affiliated Hospital of Harbin Medical University, Harbin 150086, China;2. Department of General Surgery, The 2nd Affiliated Hospital of Harbin Medical University, Harbin 150086, China;1. University of Kragujevac, Faculty of Medical Sciences, Department of Pathology, Kragujevac, Serbia;2. Clinical Pathology Department, Clinical and Hospital Center Zemun, Belgrade, Serbia;3. Clinical Center of Montenegro, Clinic of Surgery, Center for Plastic and Reconstructive Surgery, Podgorica, Montenegro;4. University of Belgrade, Faculty of Dentistry, Department of Medical Statistics and Informatics, Belgrade, Serbia;5. Clinical Center Nis, Clinic for Nephrology, Nis, Serbia;6. General Hospital of Cacak, Department for Pathological, Pathohistological and Cytological Diagnostics, Cacak, Serbia;7. University of Kragujevac, Faculty of Medical Sciences, Department of Forensic Medicine, Kragujevac, Serbia;1. Cancer Etiology and Screening Department of Cancer Institute and General Surgery, the First Hospital of China Medical University, Shenyang 110001, China;2. Key Laboratory of Cancer Etiology and Prevention in Liaoning Education Department, the First Hospital of China Medical University, Shenyang 110001, China;3. Key Laboratory of GI Cancer Etiology and Prevention in Liaoning Province, the First Hospital of China Medical University, Shenyang 110001, China;4. Department of Thoracic Surgery, Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute, No. 44 Xiaoheyan Road, Shenyang, Liaoning 110042, China;5. Ultrasound Department, the First Hospital of China Medical University, Shenyang 110001, China |
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| Abstract: | BackgroundAs more and more molecular markers have been identified in Intrahepatic Cholangiocarcinoma (ICC), target treatments are promising all around the world. However, geographical and ethnic variations in the ICC epidemiology suggest different genetic variance prevalence in western and eastern countries.MethodsSix genetic variations in Chinese ICC populations were analyzed by fluorescent in situ hybridization (FISH) or Sanger sequencing, listed as IDH1/2 mutation, FGFR2 translocation, NTRK1 amplification, MDM2 amplification, HER2 amplification and MET amplification, all of which have corresponding target drugs; meanwhile, they were compared with these gene prevalence in Spanish population based on the cBioPortal database.ResultsThe incidences of IDH1/2 mutation, FGFR2 translocation, NTRK1 amplification, MDM2 amplification, HER2 amplification and MET amplification were 29.5 %, 12.9 %, 1.51 %, 2.27 %, 3.03 % and 0.75 %, respectively, in the Spanish population and 7.14 %, 5.71 %, 7.86 %, 5.71 %,4.29 % and 2.14 %, respectively, in the Chinese population. For the gene NTRK1, 11 samples showed signal apart companied amplified using FISH break-apart probes but none of them demonstrated genetic fusion by next-generation sequencing. As to clinicopathological characteristics, patients carrying IDH1/2 mutation showed longer overall survival in the Chinese population, while those carrying FGFR2 translocation tended to be younger in the Spanish population. For HER2, MDM2 and MET, gene amplification predicted protein high-expression, whereas FGFR2 translocation and NTRK1 amplification did not predict protein high-expression.ConclusionsAlthough many target drugs have been speeded up for approval such as BGJ398 for FGFR2 fusion positive ICC patients in western countries, the beneficiary populations are very small in China. The regular target drug such as trastuzumab for HER2 amplification and Crizotinib for MET amplification may be potential candidates in target treatment based on the Chinese population. |
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| Keywords: | Intrahepatic Cholangiocarcinoma FGFR2 IDH1/2 NTRK1 MDM2 HER2 MET |
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