Vemurafenib effectively controlled Chemotherapy-refractory Intrahepatic Cholangiocarcinoma with BRAF V600E Mutation: a case report and literature review

Zusammenfassung

Hintergrund Die Chemotherapie ist die erste Behandlungsoption für das lokal fortgeschrittene oder metastasierte intrahepatische Cholangiokarzinom (ICC). Nach einer Erstlinien-Chemotherapie gibt es jedoch keine Standardzweitlinienbehandlung oder zielgerichtete Wirkstoffe für diese Patienten.

Fallpräsentation Hier stellen wir einen fortgeschrittenen ICC-Patienten vor, der eine radikale Entfernung und eine adjuvante Chemotherapie (Gemcitabin + Cisplatin) erhalten hat. Aber der Patient bleibt nur 6 Monate frei von Krankheitsanzeichen (No Evidence of Disease) nach dem Ende der Chemotherapie. Dann erhielt er eine palliative Operation, Strahlentherapie und systemische Chemotherapie (Tegafur+Oxaliplatin (SOX) und Nab-Paclitaxel+Gemcitabin (AG)). Leider war die Krankheit immer noch nicht unter Kontrolle. Als eine BRAF-V600E-Mutation im Tumorgewebe durch eine Next Generation Sequencing Analyse (NGS) gezeigt wurde, begann dieser Patient mit der Einnahme von Vemurafenib in einer Dosierung von 720–960 mg zweimal täglich und erreichte ein progressionsfreies Überleben von 7 Monaten mit signifikanter Remission der klinischen Symptome.

Schlüsselwörter Die BRAF V600E Mutation ist bei ICC ziemlich selten, daher wird sie in der Klinik nicht routinemäßig untersucht. Allerdings kann Präzisionsmedizin durch die NGS-Technologie verwirklicht werden, sodass die Ärzte bei der Behandlung der auf Chemotherapie-refraktären ICC die personalisierten genomischen Informationen nutzen können.

Abstract

Background Chemotherapy is the first treatment option for local advanced or metastatic intrahepatic cholangiocarcinoma (ICC). However, after first-line chemotherapy, there is no standard second-line treatment or targeted agents for these patients.

Case presentation Here we present an advanced ICC patient who has received radical resection and adjuvant chemotherapy (gemcitabine + cisplatin). But the no evidence of disease (NED) was maintained for only 6 months after the end of chemotherapy. He then received palliative surgery, radiotherapy and systemic chemotherapy (Tegafur+Oxaliplatin (SOX) and Nab-Paclitaxel+Gemcitabin (AG)). Unfortunately, the disease was still not under control. As the next-generation sequencing (NGS) revealed BRAF V600E mutation in the tumor tissue, this patient was started on vemurafenib with a dosage of 720–960 mg BID and achieved 7 months progression-free survival with significant remission of clinical symptoms.

Conclusions BRAF V600E mutation is quite rare in ICC, so it is not routinely detected. However, NGS technology achieves precision medicine so that physicians can utilize personalized genomic information in the management of chemotherapy-refractory ICC.

Schlüsselwörter

Vemurafenib - intrahepatisches Cholangiokarzinom - BRAF - Fallbericht - Übersicht

Keywords

Vemurafenib - Intrahepatic Cholangiocarcinoma - BRAF - Case report - Review

Publication History

Received: 13 January 2022

Accepted after revision: 09 April 2022

Article published online:
18 May 2022

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