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

页码：71 / 82

页数：12

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