FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice

Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified numerous druggable genetic alterations, including FGFR2 fusions/rearrangements. Approximately 5-7% of CCAs and 10-20% of intrahep...

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Autores principales: Angerilli, Valentina, Fornaro, Lorenzo, Pepe, Francesco, Rossi, Silvia Maria, Perrone, Giuseppe, Malapelle, Umberto, Fassan, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462997/
https://www.ncbi.nlm.nih.gov/pubmed/37017301
http://dx.doi.org/10.32074/1591-951X-859
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author Angerilli, Valentina
Fornaro, Lorenzo
Pepe, Francesco
Rossi, Silvia Maria
Perrone, Giuseppe
Malapelle, Umberto
Fassan, Matteo
author_facet Angerilli, Valentina
Fornaro, Lorenzo
Pepe, Francesco
Rossi, Silvia Maria
Perrone, Giuseppe
Malapelle, Umberto
Fassan, Matteo
author_sort Angerilli, Valentina
collection PubMed
description Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified 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.
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spelling pubmed-104629972023-08-30 FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice Angerilli, Valentina Fornaro, Lorenzo Pepe, Francesco Rossi, Silvia Maria Perrone, Giuseppe Malapelle, Umberto Fassan, Matteo Pathologica Review Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified 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. Pacini Editore srl 2023-04-05 /pmc/articles/PMC10462997/ /pubmed/37017301 http://dx.doi.org/10.32074/1591-951X-859 Text en © 2023 Copyright by Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access journal distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license: the work can be used by mentioning the author and the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en
spellingShingle Review
Angerilli, Valentina
Fornaro, Lorenzo
Pepe, Francesco
Rossi, Silvia Maria
Perrone, Giuseppe
Malapelle, Umberto
Fassan, Matteo
FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title_full FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title_fullStr FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title_full_unstemmed FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title_short FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
title_sort fgfr2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462997/
https://www.ncbi.nlm.nih.gov/pubmed/37017301
http://dx.doi.org/10.32074/1591-951X-859
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