Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.


Journal

NPJ precision oncology
ISSN: 2397-768X
Titre abrégé: NPJ Precis Oncol
Pays: England
ID NLM: 101708166

Informations de publication

Date de publication:
03 Sep 2021
Historique:
received: 18 12 2020
accepted: 14 07 2021
entrez: 4 9 2021
pubmed: 5 9 2021
medline: 5 9 2021
Statut: epublish

Résumé

Intrahepatic cholangiocarcinoma (iCCA) has emerged as a promising candidate for precision medicine, especially in the case of activating FGFR2 gene fusions. In addition to fusions, a considerable fraction of iCCA patients reveals FGFR2 mutations, which might lead to uncontrolled activation of the FGFR2 pathway but are mostly of unknown functional significance. A current challenge for molecular tumor boards (MTB) is to predict the functional consequences of such FGFR2 alterations to guide potential treatment decisions. We report two iCCA patients with extracellular and juxtamembrane FGFR2 mutations. After in silico investigation of the alterations and identification of activated FGFR2 downstream targets in tumor specimens by immunohistochemistry and transcriptome analysis, the MTB recommended treatment with an FGFR-inhibiting tyrosine kinase inhibitor. Both patients developed a rapidly detectable and prolonged partial response to treatment. These two cases suggest an approach to characterize further detected FGFR2 mutations in iCCA to enable patients´ selection for a successful application of the FGFR -inhibiting drugs.

Identifiants

pubmed: 34480077
doi: 10.1038/s41698-021-00220-0
pii: 10.1038/s41698-021-00220-0
pmc: PMC8417271
doi:

Types de publication

Journal Article

Langues

eng

Pagination

80

Informations de copyright

© 2021. The Author(s).

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Auteurs

Michael Bitzer (M)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany. michael.bitzer@med.uni-tuebingen.de.
Center for Personalized Medicine, Eberhard-Karls University, Tübingen, Germany. michael.bitzer@med.uni-tuebingen.de.
Cluster of Excellence, Image Guided and Functionally Instructed Tumor Therapies, Eberhard-Karls University, Tübingen, Germany. michael.bitzer@med.uni-tuebingen.de.
German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany. michael.bitzer@med.uni-tuebingen.de.

Stephan Spahn (S)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.

Sepideh Babaei (S)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.

Marius Horger (M)

Department of Diagnostic and Interventional Radiology, Eberhard-Karls University, Tübingen, Germany.

Stephan Singer (S)

Institute of Pathology and Neuropathology, Eberhard-Karls University, Tübingen, Germany.

Klaus Schulze-Osthoff (K)

Cluster of Excellence, Image Guided and Functionally Instructed Tumor Therapies, Eberhard-Karls University, Tübingen, Germany.
German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Molecular Medicine, Interfaculty Institute for Biochemistry, Eberhard-Karls University, Tübingen, Germany.

Pavlos Missios (P)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.

Sergios Gatidis (S)

Department of Diagnostic and Interventional Radiology, Eberhard-Karls University, Tübingen, Germany.

Dominik Nann (D)

Institute of Pathology and Neuropathology, Eberhard-Karls University, Tübingen, Germany.

Sven Mattern (S)

Institute of Pathology and Neuropathology, Eberhard-Karls University, Tübingen, Germany.

Veit Scheble (V)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.

Konstantin Nikolaou (K)

Department of Diagnostic and Interventional Radiology, Eberhard-Karls University, Tübingen, Germany.

Sorin Armeanu-Ebinger (S)

Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.

Martin Schulze (M)

CeGaT GmbH and Praxis für Humangenetik, Tübingen, Germany.

Christopher Schroeder (C)

Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.

Saskia Biskup (S)

CeGaT GmbH and Praxis für Humangenetik, Tübingen, Germany.

Janina Beha (J)

Center for Personalized Medicine, Eberhard-Karls University, Tübingen, Germany.

Manfred Claassen (M)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.

Kristina Ruhm (K)

Center for Personalized Medicine, Eberhard-Karls University, Tübingen, Germany.

Antti Poso (A)

Cluster of Excellence, Image Guided and Functionally Instructed Tumor Therapies, Eberhard-Karls University, Tübingen, Germany.
German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany.
School of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland.

Nisar P Malek (NP)

Department of Internal Medicine I, Eberhard-Karls University, Tübingen, Germany.
Center for Personalized Medicine, Eberhard-Karls University, Tübingen, Germany.
Cluster of Excellence, Image Guided and Functionally Instructed Tumor Therapies, Eberhard-Karls University, Tübingen, Germany.
German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany.

Classifications MeSH