Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R
| Autor: | Goldgraben, Mae A, Fewings, Eleanor, Larionov, Alexey, Scarth, James, Redman, James, Telford, Nick, Arkwright, Peter D, Bonney, Denise, Wilks, Deepti, Kulkarni, Samar, Taylor, A Malcolm R, Tischkowitz, Marc D, Meyer, Stefan |
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| Přispěvatelé: | Goldgraben, Mae A [0000-0002-1111-2804], Meyer, Stefan [0000-0002-2283-3690], Apollo - University of Cambridge Repository |
| Rok vydání: | 2020 |
| Předmět: |
Chromosome Aberrations
Adolescent Gene Expression Profiling DNA Helicases Ataxia Telangiectasia Mutated Proteins Polymorphism Single Nucleotide Interleukin-7 Receptor alpha Subunit Proto-Oncogene Proteins p21(ras) Ataxia Telangiectasia Leukemia Myeloid Acute RNA Recognition Motif Proteins Humans Female Tumor Suppressor Protein p53 Poly-ADP-Ribose Binding Proteins Transcriptome RNA Helicases |
| Popis: | Ataxia Telangiectasia (A-T) is an autosomal recessive disease, characterised by progressive neurodegeneration with cerebellar ataxia, oculo-cutaneous telangiectasia, immunodeficiency and cancer predisposition. It is caused by biallelic mutations in ATM (Ataxia Telangiectasia Mutated, chromosome 11q22.3) encoding a serine/threonine kinase essential in cell cycle control, DNA double-strand break repair and haematopoietic stem cell maintenance 1,2. Individuals with A-T classically develop lymphoid malignancies, a broad spectrum of other malignancies 3 and rarely, acute myeloid leukaemia (AML) 4-7. Previous AT-AML reports have described the karyotype and dismall clinical course (Supplementray Table S1). We performed sequential sample genomic profiling of an AML that developed in a 17-year-old female with A-T, to identify secondary genetic events towards myeloid malignancy (full clinical case history in Supplementary Information). |
| Databáze: | OpenAIRE |
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