Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

摘要: The bone marrow failure syndromes (BMFS) are a heterogeneous group of rare blood disorders characterized by inadequate haematopoiesis, clonal evolution, and increased risk leukaemia. Single nucleotide polymorphism arrays (SNP-A) have been proposed as tool for surveillance evolution in BMFS. To better understand the natural history BMFS to assess clinical utility SNP-A these disorders, we analysed 124 from comprehensively cohort 91 patients at our centre. were correlated with medical histories, haematopathology, cytogenetic molecular data. longitudinal analysis was performed 25 patients. We found that acquired copy number-neutral loss heterozygosity (CN-LOH) significantly more frequent aplastic anaemia (aAA) than other (odds ratio 12.2, p<0.01). Homozygosity descent most common congenital BMFS, frequently unmasking autosomal recessive mutations. Copy number variants (CNVs) polymorphic, identified CNVs enriched neutropenia aAA. Our results suggest CN-LOH is general phenomenon aAA probably mechanistically prognostically distinct typical myeloid malignancies. shows highest yield detecting new haematopoiesis diagnosis relapse.