Bi-allelic amplification of ATM gene in blastoid variant of mantle cell lymphoma: a novel mechanism of inactivation due to chromoanagenesis?
Veronica OrtegaChristina MendiolaJuana RodriguezWilliam EhmanYou-Wen QianGopalrao V N VelagaletiPublished in: Molecular cytogenetics (2021)
To the best of our knowledge, ATM gene amplification is not previously reported in BMCL and our case suggests a novel mechanism of ATM inactivation caused by chromoanagenesis resulting in mutant allele specific imbalance with copy number gain.