Deciphering inv3/t(3;3) Myeloid Leukemia Vulnerabilities via Proteogenomics and N-terminal Proteomics

NIH RePORTER · NIH · F31 · $44,731 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY The overall objective of this proposal is to develop and apply novel proteogenomic approaches to identify therapeutic vulnerabilities of chromosome 3 rearranged myeloid leukemias. Chromosome 3 inversions or transversions (inv3/t(3;3)) leukemias result in aberrant overexpression of oncogenic transcription factor MECOM (MDS1 and EVI1 complex locus, specifically a truncated isoform EVI1) and decreased expression of tumor suppressor GATA2. Inv3/t(3;3) abnormal myeloid leukemia patients have no targeted precision therapies as they are resistant to standard of care regimens like Tyrosine Kinase Inhibitors (TKIs), and so experience dismal 5- year survival rates of <5%. Consequently, there is an unmet need for new approaches to therapeutically target inv3/t(3;3)-driven leukemias. Canonically, MECOM is critical in regulating hematopoiesis, however, alternative transcripts of MECOM drive oncogenesis when overexpressed as a result of chromosomal rearrangements. In addition to oncogenic MECOM, I hypothesize that the inv3/t(3;3) abnormality leads to the production of additional leukemia specific proteoforms that contribute to the aggressive nature of this disease. Here, I will test this hypothesis by comparing inv3/t(3;3) positive and negative myeloid leukemia cell lines with healthy cord-blood derived hematopoietic progenitor cells using novel proteogenomic approaches. To test this hypothesis I will: identify inv3/t(3;3) specific genes by combining RNA-Seq and bulk proteomics (Aim 1), utilize PacBio long read sequencing with proteomics to identify novel protein coding alternative transcripts (Aim 2) and capture inv3/t(3;3) unique post-translational processes through utilization of my N-terminal proteomics methodology termed N- SPyCE (neo-N-terminal SP3 Pyridine Carboxaldehyde Enrichment) (Aim 3). In exciting preliminary data, I have already identified several key candidates for MECOM-affected genes, including HLA-DPB1, IL16, SPP1, CD74 and ALDH1A1. Pathway analysis of my bulk proteomic data revealed a striking correlation between inv3/t(3;3) harboring cells and increased cathepsin-mediated protease activity. I hypothesize that there are specific cathepsin cleaved substrates that are specific effectors of inv3/t(3;3) biology. Overall, this project proposes to utilize proteogenomics to detect disease specific transcript isoforms, to validate their expression at the protein level and to investigate leukemia specific proteoforms as therapeutically relevant.

Key facts

NIH application ID
10997848
Project number
1F31CA295026-01
Recipient
UNIVERSITY OF CALIFORNIA LOS ANGELES
Principal Investigator
Alexandra Chloe Turmon
Activity code
F31
Funding institute
NIH
Fiscal year
2024
Award amount
$44,731
Award type
1
Project period
2024-08-01 → 2027-07-31