Published: 11-04-2019 08:38 | Updated: 01-10-2019 12:13

Combined genome and proteome level analysis reveals new insights in childhood leukemia

Professor Janne Lehtiö and his colleagues at the department of Oncology-Pathology have together with Kajsa Paulsson and her group at Lund University published an article in Nature Communications where they have investigated the two most common subtypes of pediatric acute lymphoblastic leukemia (ALL) using in depth proteomics and next generation sequencing techniques.

In the publication they report reduced protein and transcript levels of the chromatin master regulators CTCF and cohesin in the hyperdiploid ALL subtype. This led them to direct their efforts to studying the genome-wide regulation of gene expression linked to CTCF and cohesin binding sites, where a dysregulation could also be observed. By performing Hi-C, a method that reveals the spatial organization of chromosomes, they found that the normal chromosomal structure is disturbed in hyperdiploid ALL.

The study is the first proteogenomic study of ALL and provides large, openly accessible transcriptomic and proteomic datasets and the findings from the study provide new insight into leukemogenesis and what drives cancer progression in hyperdiploid ALL.


Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Yang M, Vesterlund M, Siavelis I, Moura-Castro L, Castor A, Fioretos T, et al
Nat Commun 2019 04;10(1):1519