SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia

Sci Adv. 2024 Mar 22;10(12):eadl4018. doi: 10.1126/sciadv.adl4018. Epub 2024 Mar 22.

Abstract

In a phenotypical screen of 56 acute myeloid leukemia (AML) patient samples and using a library of 10,000 compounds, we identified a hit with increased sensitivity toward SF3B1-mutated and adverse risk AMLs. Through structure-activity relationship studies, this hit was optimized into a potent, specific, and nongenotoxic molecule called UM4118. We demonstrated that UM4118 acts as a copper ionophore that initiates a mitochondrial-based noncanonical form of cell death known as cuproptosis. CRISPR-Cas9 loss-of-function screen further revealed that iron-sulfur cluster (ISC) deficiency enhances copper-mediated cell death. Specifically, we found that loss of the mitochondrial ISC transporter ABCB7 is synthetic lethal to UM4118. ABCB7 is misspliced and down-regulated in SF3B1-mutated leukemia, creating a vulnerability to copper ionophores. Accordingly, ABCB7 overexpression partially rescued SF3B1-mutated cells to copper overload. Together, our work provides mechanistic insights that link ISC deficiency to cuproptosis, as exemplified by the high sensitivity of SF3B1-mutated AMLs. We thus propose SF3B1 mutations as a biomarker for future copper ionophore-based therapies.

MeSH terms

  • Copper* / metabolism
  • Humans
  • Ionophores / pharmacology
  • Leukemia, Myeloid, Acute* / genetics
  • Mutation
  • Phosphoproteins / metabolism
  • RNA Splicing Factors / genetics

Substances

  • Copper
  • RNA Splicing Factors
  • Ionophores
  • SF3B1 protein, human
  • Phosphoproteins