O14: Improving detection of variant MECOM rearrangements through optical genome mapping and repurposed targeted RNA-Seq

Genetics in Medicine Open 2026 Open access

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Authors: Paige Van Haute, Holly Welfley, Chi Young Ok, Manjunath A. Nimmakayalu, Awdhesh Kalia, J. Bryan, Leonard Jeffrey Medeiros, Gökçe Törüner
DOI: 10.1016/j.gimo.2026.104300
Cited by: 0

Abstract

MECOM rearrangement is an AML-defining genetic abnormality that carries adverse prognostic implications and which also can occur in other myeloid neoplasms. Accurate testing for MECOM rearrangement is a component of the diagnostic work-up of myeloid malignancies. The classic inv(3)(q21q26.2)/t(3;3)(q21;q26.2) is the best-characterized MECOM aberration and promotes leukemogenesis through enhancer hijacking, in which a distal GATA2 enhancer is repositioned near the EVI1 (MECOM) promoter, leading to MECOM overexpression.

Fields of Study & Subjects

Acute Myeloid Leukemia Research Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104300–104300
Publication date
1 January 2026
Language
EN