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Case Reports
. 2023 Jan 19:16:23-29.
doi: 10.2147/OTT.S390458. eCollection 2023.

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

Weiming Fan #  1 , Chuan Wang #  1 , Xuefeng Zhong  2 , Yating Zheng  2 , Tingting Chen  2 , Mengli Huang  2 , Shuying Su  1
Affiliations
Case Reports

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

Weiming Fan et al. Onco Targets Ther. .

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

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Conflict of interest statement

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.

Figures

Figure 1
Figure 1
Representative upper abdominal imaging throughout the treatment period. (A) Preoperative CTA showed a lumpy mixed-density lesion in the liver with an unclear boundary with the gallbladder. (B) CT showed tumor cells was partially necrotic after D-TACE. (C) Postoperative CT showed new nodules in the S6 segment of the residual liver. (D) CT showed two small nodules in the S6 segment of the liver. (E) CT showed some shadows were smaller than before after palbociclib treatment. (F) CT showed a tumor reduction (reaching the criteria for a PR according to RECIST 1.1). (G) The latest CT showed the sign of recurrence. (H) The main clinical diagnosis and treatment process.
Figure 2
Figure 2
Excised tissue and postoperative pathological examination of the patient. (A) Excised gallbladder and liver tissue: a gray mass of 6 cm × 4.5 cm × 3 cm in size on section view. (B) Pathological examination: hematoxylin and eosin (H&E) stain, original magnification ×200. (C) Immunohistochemical results: CK7 (+); CK19 (+); CK20 (-); CDX-2 (-); Glypican-3 (-); Hepatocyte (-); TTF-1 (-).
Figure 3
Figure 3
Copy number analysis of all genes showing the CDKN2A/B loss. The horizontal axis represents the location of the gene on the chromosome, and the vertical axis represents the copy number calculated by the NGS method.
See this image and copyright information in PMC

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