First publication of the network led by Maki Sakuma at MLL



Maki Sakuma, our ESR based at MLL Munich Leukemia Laboratory, has just published the first paper of her PhD studies in the journal Leukemia. This is also the first paper of our network, and expands the understanding of VEXAS syndrome. 

Analysis of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) data of 4168 patients with hematological malignancies reveals 16 UBA1 non-M41 putative somatic variants with a clear sex-bias in patients with myeloid malignancies. The novel description of multiple putative novel UBA1 non-M41 variants in patients with various hematological malignancies expands the genomic spectrum of VEXAS syndrome.

Don’t miss the full study in Open Access! Link: