FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice

被引：5
|
作者：
Angerilli, Valentina [1 ]
Fornaro, Lorenzo [2 ]
Pepe, Francesco [3 ]
Rossi, Silvia Maria [4 ,5 ]
Perrone, Giuseppe [4 ,5 ]
Malapelle, Umberto [3 ]
Fassan, Matteo [1 ,6 ]
机构：
[1] Univ Padua, Dept Med DIMED, Surg Pathol Unit, Padua, PD, Italy
[2] Azienda Osped Univ Pisana, Med Oncol, Pisa, PI, Italy
[3] Univ Naples Federico II, Dept Publ Hlth, Naples, Italy
[4] Univ Campus Bio Med Roma, Dept Med & Surg, Res Unit Anat Pathol, Rome, Italy
[5] Fondazione Policlin Univ Campus Bio Med, Anat Pathol Operat Res Unit, Rome, Italy
[6] IOV IRCCS, Veneto Inst Oncol, Padua, Italy
来源：
PATHOLOGICA | 2023年 / 115卷 / 02期
关键词：
cholangiocarcinoma; precision medicine; FGFR2; biomarkers; OPEN-LABEL; METASTATIC CHOLANGIOCARCINOMA; FORMALIN FIXATION; SINGLE-ARM; RNA; MULTICENTER; FUSIONS; CHEMOTHERAPY; BGJ398; TISSUE;
D O I：
10.32074/1591-951X-859
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identi!ed numerous druggable genetic alterations, including FGFR2 fusions/rearrangements. Approximately 5-7% of CCAs and 10-20% of intrahepatic iCCAs harbor FGFR2 fusions. With the recent advent of FGFR-targeting therapies into clinical practice, a standardization of molecular testing for FGFR2 alterations in CCA will be necessary. In this review, we describe the technical aspects and challenges related to FGFR2 testing in routine practice, focusing on the comparison between Next-Generation Sequencing (NGS) and FISH assays, the best timing to perform the test, and on the role of liquid biopsy.
引用
收藏
页码：71 / 82
页数：12
相关论文
共 50 条
  • [1] Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing
    Neumann, Olaf
    Burn, Timothy C.
    Allgaeuer, Michael
    Ball, Markus
    Kirchner, Martina
    Albrecht, Thomas
    Volckmar, Anna-Lena
    Beck, Susanne
    Endris, Volker
    Goldschmid, Hannah
    Lehmann, Ulrich
    Seker-Cin, Huriye
    Uhrig, Sebastian
    Roessler, Stephanie
    Budczies, Jan
    Froehling, Stefan
    Longerich, Thomas
    Wagner, Alex H.
    Vogel, Arndt
    Schirmacher, Peter
    Stenzinger, Albrecht
    Kazdal, Daniel
    BRITISH JOURNAL OF CANCER, 2022, 127 (08) : 1540 - 1549
  • [2] Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing
    Olaf Neumann
    Timothy C. Burn
    Michael Allgäuer
    Markus Ball
    Martina Kirchner
    Thomas Albrecht
    Anna-Lena Volckmar
    Susanne Beck
    Volker Endris
    Hannah Goldschmid
    Ulrich Lehmann
    Huriye Seker-Cin
    Sebastian Uhrig
    Stephanie Roessler
    Jan Budczies
    Stefan Fröhling
    Thomas Longerich
    Alex H. Wagner
    Arndt Vogel
    Peter Schirmacher
    Albrecht Stenzinger
    Daniel Kazdal
    British Journal of Cancer, 2022, 127 : 1540 - 1549
  • [3] FGFR2 Inhibition in Cholangiocarcinoma
    Vogel, Arndt
    Segatto, Oreste
    Stenzinger, Albrecht
    Saborowski, Anna
    ANNUAL REVIEW OF MEDICINE, 2023, 74 : 293 - 306
  • [4] The Evolving Role of FGFR2 Inhibitors in Intrahepatic Cholangiocarcinoma: From Molecular Biology to Clinical Targeting
    Salati, Massimiliano
    Caputo, Francesco
    Baldessari, Cinzia
    Carotenuto, Pietro
    Messina, Marco
    Caramaschi, Stefania
    Dominici, Massimo
    Bonetti, Luca Reggiani
    CANCER MANAGEMENT AND RESEARCH, 2021, 13 : 7747 - 7757
  • [5] Pemigatinib in cholangiocarcinoma with a FGFR2 rearrangement or fusion
    Storandt, Michael H.
    Jin, Zhaohui
    Mahipal, Amit
    EXPERT REVIEW OF ANTICANCER THERAPY, 2022, 22 (12) : 1265 - 1274
  • [6] Clinical outcomes and genomic evolution of FGFR2 fusions/rearrangements in intrahepatic cholangiocarcinoma
    Cham, Brent B.
    Lee, Sunyoung S.
    CANCER RESEARCH, 2022, 82 (12)
  • [7] FGFR2 fusion in resectable intrahepatic cholangiocarcinoma patients
    Xu, S.
    Zheng, Y.
    Gong, W.
    Li, B.
    Wang, Y.
    Li, H.
    Zhao, S.
    Shi, X.
    Zhang, L.
    ANNALS OF ONCOLOGY, 2020, 31 : S267 - S267
  • [8] Functions of FGFR2 corrupted by translocations in intrahepatic cholangiocarcinoma
    Li, Fangda
    Peiris, Malalage N.
    Donoghue, Daniel J.
    CYTOKINE & GROWTH FACTOR REVIEWS, 2020, 52 : 56 - 67
  • [9] Infigratinib in pretreated cholangiocarcinoma with FGFR2 fusions or rearrangements
    Neuzillet, Cindy
    LANCET GASTROENTEROLOGY & HEPATOLOGY, 2021, 6 (10): : 773 - 775
  • [10] Cholangiocarcinoma: fusions in FGFR2 detected in liquid biopsy
    Patriarca, M. E.
    Coma, M. I.
    Naranjo Hans, D.
    Fernandez Rodriguez, M. C.
    Bellosillo, B.
    Visa Turmo, L.
    Lloveras, B.
    VIRCHOWS ARCHIV, 2022, 481 (SUPPL 1) : S245 - S246
12345