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Lysine methyltransferase 2D deficiency drives complete response to pembrolizumab in PD-L1-High cholangiocarcinoma: a case report and review of literature
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Lysine methyltransferase 2D deficiency drives complete response to pembrolizumab in PD-L1-High cholangiocarcinoma: a case report and review of literature
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Lysine methyltransferase 2D deficiency drives complete response to pembrolizumab in PD-L1-High cholangiocarcinoma: a case report and review of literature
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Journal Article
Lysine methyltransferase 2D deficiency drives complete response to pembrolizumab in PD-L1-High cholangiocarcinoma: a case report and review of literature
2025
Overview
Intrahepatic cholangiocarcinoma (ICC) typically exhibits poor responsiveness to immune checkpoint inhibitors (ICIs) due to its microsatellite-stable (MSS) status and low tumor mutational burden (TMB). Conventional biomarkers like PD-L1 expression show limited predictive value, creating an urgent need for novel therapeutic targets in this aggressive malignancy.
We describe a stage IV ICC patient with PD-L1 positivity and a somatic KMT2D mutation (p.R5303C) who attained sustained complete remission after pembrolizumab treatment, despite developing severe multi-organ immune-related adverse events (irAEs) including hepatitis, pneumonitis, and thrombocytopenia. Mechanistic analysis revealed that KMT2D deficiency potentially remodeled the tumor immune microenvironment through epigenetic reprogramming, characterized by enhanced CD8+ T-cell infiltration.
Our findings advocate for combinatorial biomarker strategies incorporating epigenetic markers (KMT2D status) with PD-L1 expression to optimize ICI patient selection, while highlighting the need for vigilant toxicity monitoring in this subset.
Publisher
Frontiers Media SA,Frontiers Media S.A
Subject
/ Antibodies, Monoclonal, Humanized - adverse effects
/ Antibodies, Monoclonal, Humanized - therapeutic use
/ Antineoplastic Agents, Immunological - therapeutic use
/ Bile Duct Neoplasms - drug therapy
/ Bile Duct Neoplasms - genetics
/ Cholangiocarcinoma - drug therapy
/ Cholangiocarcinoma - genetics
/ Cholangiocarcinoma - pathology
/ Genes
/ Histone-Lysine N-Methyltransferase - deficiency
/ Histone-Lysine N-Methyltransferase - genetics
/ Humans
/ Immune checkpoint inhibitors
/ Immune Checkpoint Inhibitors - therapeutic use
/ intrahepatic cholangiocarcinoma
/ Mutation
/ pathologic complete response
/ Steroids
/ Toxicity
/ Tumor Microenvironment - immunology
/ Tumors
