Molecular profiling of MBD4-deficient acute myeloid leukaemia

We describe two cases of MBD4-deficient acute myeloid leukaemia (AML). Clinical samples were used for molecular analysis, including genomic profiling (genome and exomes), methylation analysis (RRBS) and transcriptional profiling (RNA-sequencing). An analysis and methodological description has been published: “MBD4 guards against methylation damage and germline deficiency predisposes to clonal hematopoiesis and early-onset AML” [PMID: 30049810]

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

4 Datasets 2 Publications

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Dataset ID	Description	Samples
EGAD00001003567	Reduced Representation Bisulfite Sequencing for WEHI-AML-1 and WEHI-AML-2. RRBS libraries were made with the NuGEN Ovation RRBS Methyl-Seq System. Bisulfite conversion was performed with the Qiagen Epitect kit. Sequencing was performed on an Illumina HiSeq2500.	7
EGAD00001003568	Genome sequencing at diagnosis and post induction for WEHI-AML-1 and WEHI-AML-2. Whole genome sequencing was performed on an Illumina HiSeq X Ten.	4
EGAD00001003569	Transcriptome sequencing for WEHI-AML-1 and WEHI-AML-2. RNA libraries were generated using the Illumina TruSeq RNA Sample Preparation Kit v2 and sequenced on an Illumina HiSeq2500.	9
EGAD00001003570	Exome sequencing for WEHI-AML-1 and WEHI-AML-2. Exome capture was performed with the Human All Exon v5_UTR Capture Library and the Agilent Technologies SureSelectXT2 Target Enrichment System, with sequencing on an Illumina HiSeq2500.	9

Publications	Citations
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML. Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, Bajel A, Luiken B, Rijken M, Mclennan T, Hoogenboezem RM, Kavelaars FG, Fröhling S, Blewitt ME, Bindels EM, Alexander WS, Löwenberg B, Roberts AW, Valk PJM, Majewski IJ. Blood 132: 2018 1526-1534	59
Base-excision repair pathway shapes 5-methylcytosine deamination signatures in pan-cancer genomes. Silveira AB, Houy A, Ganier O, Özemek B, Vanhuele S, Vincent-Salomon A, Cassoux N, Mariani P, Pierron G, Leyvraz S, Rieke D, Picca A, Bielle F, Yaspo ML, Rodrigues M, Stern MH. Nat Commun 15: 2024 9864	0