Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wildtype TP53 and mutant KRAS, G3BP1 and IL7R

Mae A. Goldgraben, Eleanor Fewings, Alexey Larionov, James Scarth, James Redman, Nick Telford, Peter Arkwright, Denise Bonney, Deepti Wilks, Samar Kulkarni, A. Malcolm R. Taylor, Marc D. Tischkowitz, Stefan Meyer

Research output: Contribution to journalArticlepeer-review

Abstract

Ataxia Telangiectasia (A-T) is caused by biallelic mutations in ATM and confers
predisposition to cancer, with acute myeloid leukaemia (AML) being rarely observed.
We investigated an AML in an A-T patient for secondary genetic events by performing
whole exome sequencing of serial disease samples. The results revealed a typical
complex karyotype AML with no evidence of TP53 mutations. Additionally an activating
KRAS mutation, a loss-of-function G3BP1 mutation and a T-cell acute lymphoblastic
leukaemia associated gain-of-function IL7R exon 6 mutation, were all present from
AML diagnosis. Loss of ATM was crucial to the diversity and features of genomic
instability observed.
Original languageEnglish
JournalPediatric Blood and Cancer
Publication statusAccepted/In press - 30 Mar 2020

Fingerprint

Dive into the research topics of 'Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wildtype TP53 and mutant KRAS, G3BP1 and IL7R'. Together they form a unique fingerprint.

Cite this