A Refractory Case of CDKN2A/B Loss Metastatic Intrahepatic Cholangiocarcinoma Achieving a Partial Response After First-Line Treatment with Palbociclib

Abstract

Intrahepatic cholangiocarcinoma (ICC) is a highly aggressive and malignant subtype of biliary duct tumors. The poor prognosis of advanced ICC brings great challenges to clinical treatment, and chemotherapy-based therapy remains the standard first-line regimen. In recent years, the development of clinical research on targeted therapy for biliary duct tumors has brought new strategies for clinical treatment, but the targets are limited. Herein, we reported a 68-year-old patient with metastasis ICC harboring CDKN2A/B loss, who achieved a partial response (PR) after the first-line treatment with a cyclin-dependent kinases 4 and 6 (CDK4/6) inhibitor called palbociclib, and no obvious side effects were observed. As of the latest follow-up time, the progression-free survival (PFS) had lasted for 20 months. This case reveals the molecular characteristic of ICC patients who respond to palbociclib treatment and illustrates the importance of performing a multiple-gene panel test in ICC patients.

Keywords:

• intrahepatic cholangiocarcinoma
• ICC
• CDKN2A/B loss
• palbociclib
• CDK4/6 inhibitor
• next-generation sequencing
• NGS

Abbreviations

AFP, alpha-fetoprotein; CA19-9, carbohydrate antigen 19-9; CDK4/6, cyclin-dependent kinases 4 and 6; CEA, carcinoembryonic antigen; CT, computed tomography; CTA, computed tomography angiography; D-TACE, drug-eluting-beads transhepatic arterial chemotherapeutic embolism; FDA, Food and Drug Administration; FFPE, formalin-fixed paraffin-embedded; GemCis, gemcitabine and cisplatin regimen; ICC, intrahepatic cholangiocarcinoma; NGS, next-generation sequencing; OS, overall survival; PFS, progression-free survival; PR, partial response; pRB, retinoblastoma protein.

Ethical Statement

This study has been approved by Ethic Committee of the First People’s Hospital of Foshan (Guangdong, China). The written informed consent was obtained from the patient in order to publish this case report.

Author Contributions

All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

Disclosure

XZ, YZ, and MH are current employees of 3D Medicines, Inc. TC is a former employee of 3D Medicines, Inc. The other authors have no conflicts of interest to declare for this work.

Additional information

Funding

The authors received no specific funding for this work.