Evaluation of Acute Myeloid Leukemia Genomes Using Genomic Proximity Mapping

Overview

Journal medRxiv

Date 2024 Jun 10

PMID 38853970

Authors

Cecilia Cs Yeung

Stephen M Eacker

Olga Sala-Torra

Lan Beppu

David W Woolston

Ivan Liachko

Maika Malig

Derek Stirewalt

Min Fang

Jerald Radich

Affiliations

Soon will be listed here.

Abstract

Background: Cytogenetic analysis encompasses a suite of standard-of-care diagnostic testing methods that is routinely applied in cases of acute myeloid leukemia (AML) to assess chromosomal changes that are clinically relevant for risk classification and treatment decisions.

Objective: In this study, we assess the use of Genomic Proximity Mapping (GPM) for cytogenomic analysis of AML diagnostic specimens for detection of cytogenetic risk variants included in the European Leukemia Network (ELN) risk stratification guidelines.

Methods: Archival patient samples (N=48) from the Fred Hutchinson Cancer Center leukemia bank with historical clinical cytogenetic data were processed for GPM and analyzed with the CytoTerra cloud-based analysis platform.

Results: GPM showed 100% concordance for all specific variants that have associated impacts on risk stratification as defined by ELN 2022 criteria, and a 72% concordance rate when considering all variants reported by the FH cytogenetic lab. GPM identified 39 additional variants, including variants of known clinical impact, not observed by cytogenetics.

Conclusions: GPM is an effective solution for the evaluation of known AML-associated risk variants and a source for biomarker discovery.

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