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Genomic study of an AT-AML

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 arising in an A-T patient for secondary genetic events by performing whole exome sequencing of serial samples over the disease course. AML samples were compared to a reference "germline" sample from a much earlier time point. Goldgraben et al 2020, Pediatric Blood & Cancer

PROVIDER: EGAS00001004392 | EGA |

REPOSITORIES: EGA

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

Goldgraben Mae A MA Fewings Eleanor E Larionov Alexey A Scarth James J Redman James J Telford Nick N Arkwright Peter D PD Bonney Denise D Wilks Deepti D Kulkarni Samar S Taylor A Malcolm R AMR Tischkowitz Marc D MD Meyer Stefan S

Pediatric blood & cancer 20200508 9

PMID: 32383811

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