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BACKGROUD: Fanconi anemia (FA), an inherited bone marrow failure syndrome with impaired DNA repair system, is characterized by cytopenias, congenital abnormalities, and predisposition to malignancy as a consequence of chromosomal instability and hypersensitivity to DNA interstrand cross-linking agents. Differential diagnosis of FA and aplastic anemia requires integrated work-up including physical findings, bone marrow histologic findings and chromosome breakage test. Yet, there have been no consensus criteria for chromosome breakage test, which depend on each laboratory's own decision. The aim of our study was 1) to investigate the incidence of FA showing positive results for chromosome breakage test among patients diagnosed with aplastic anemia, and 2) to investigate the frequency of the gene mutations related to inherited bone marrow failure syndrome in patients with aplastic anemia. In addition to chromosome breakage test, we performed whole genome sequencing with bone marrow mononuclear cells in 18 pediatric patients with aplastic anemia whose bone marrow specimen was available.

Background: Telomere is a repeatitive sequence at the chromosome end, functioning as a cap, and the length of telomere becomes shortened after each cell devision, eventually going to senescence. Thus, the length of telomere reflects the proliferative capacity of cell and cellular age. Inherited mutation of telomerase gene results in dyskeratosis congenita characterized by telomere shortening and multi-organ stem cell damage. In contrast, stem cells or tumor cells maintain their telomere length by telomerase or alternative telomere lengthening. To investigate the profiles of telomere length among hematologic malignancies, we measured mean telomere length and heterogeneity of telomere length in various hematologic diseases, in comparison with bone marrow failure syndrome, aplastic anemia (AA) and myelodysplastic syndrome (MDS).

No relevant conflicts of interest to declare.