Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

Context-dependent role of trisomy 6 in myelodysplastic neoplasms and acute myeloid leukemia: a multi-omics analysis

“…Lesions involving 6p are of particular interest as they point toward HLA locus involvement, including loss of heterozygosity and/or haploinsufficiency, as pathogenic drivers resulting from deletions and UPD6p [ 1 , 2 ]. Along with somatic mutations in various HLA alleles, deletions of various sizes including microdeletions of the HLA locus as well as somatic UPD6p have been suggested to result from immune pressure and to act as means of escape hematopoiesis in immune-mediated aplastic anemia (AA) [ 3 , 4 ]. Similarly, our group described these lesions in the context of loss of graft versus leukemia (GvL) effect of mismatched donor HLA alleles following allogeneic hematopoietic stem cell transplant (alloHSCT) with subsequent relapse of myeloid leukemias [ 5 ].…”