Hepatocellular Carcinoma cfDNA (MSK, JCO Precision Oncology 2023)

Overview

Single-center cohort of 51 patients with histologically confirmed advanced hepatocellular carcinoma (HCC) at Memorial Sloan Kettering Cancer Center (February 2019 – August 2021), profiling circulating cell-free DNA (cfDNA) using MSK-ACCESS. Matched tumor tissue MSK-IMPACT data available for 37 patients (72.5%). Data deposited in cBioPortal as hcc_jcopo_msk_2023. PMID:37769223

Composition

  • 53 plasma samples from 51 patients with inoperable advanced HCC; AJCC stage IV (74%), III (18%), II (8%). PMID:37769223
  • Median age 69 years; 76% male; 47% hepatitis B/C etiology, 53% non-viral. PMID:37769223
  • 47% treatment-naive at cfDNA collection; 35% prior TKI; 18% prior anti-PD-1/PD-L1. PMID:37769223

Assays / panels (linked)

Papers using this cohort

  • PMID:37769223 — Targeted Molecular Profiling of Circulating Cell-Free DNA in Patients With Advanced Hepatocellular Carcinoma.

Notable findings derived from this cohort

  • Genomic alterations detected in 90.6% of plasma samples. Median cfDNA yield 39.43 ng; median VAF 0.027. PMID:37769223
  • Top cfDNA mutation frequencies: TERT promoter 57%, TP53 47%, CTNNB1 37%, ARID1A 18%, TSC2 14%. PMID:37769223
  • cfDNA detected 92.5% of alterations previously called in matched tumor tissue; cfDNA-exclusive alterations found in 27% of paired samples, 40% of which were OncoKB level 3b actionable. PMID:37769223
  • TP53 significantly more prevalent in cfDNA vs. published tissue cohort (51% vs. 32%, P=0.024). PMID:37769223

Sources

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