Complex karyotypes (CK) were thoroughly analyzed by using the data of multicolor FISH in 27 patients with myelo-dysplastic syndromes (MDS) and MDS-associated acute myeloid leukemias (AMLm). Despite a vast variety of identified genetic impairments, chromosomes 5, 8, and 7 appeared to be most frequently (79 %, 76 %, and 73 %, respectively) involved in rearrangements, a fact also documented in literature. In view of this, two independent cytogenetic subgroups with chromosome 5/7 and 5/7/8 rearrangements were formed. Chromosomes 5 and 7 predominantly showed unbalanced karyotype, and chromosome 8 was characterized by its combinations with trisomies. The study also revealed that complex markers, more often than the other ones, contain chromosome 7 material, which has not so far been adequately explained. At the same time, the accumulation of chromosome 8 material in CK was associated with a more favorable course of underlying disease. On the other hand, detailed structural analysis of some supercomplex CK markers affords grounds for the assertion that chromothripsis notably participates in their formation. The overall survival of MDS and AMLm patients in artificially formed joint subgroups with combinations of involved chromosomes 5/7 and 5/7/8 was significantly lower than in AMLm (p = 0.035).
The study assessed the outcomes of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in 34 patients with cytogenetically verified variants of myelodysplastic syndrome (MDS) with trisomy 8 and/or monosomy 7, who were treated at the RM Gorbacheva Scientific Research Institute of Pediatric Oncology, Hematology and Transplantation from 2013 to 2020. Both adult and pediatric MDS were analyzed without excluding the variants with two additional chromosomal abnormalities or complex karyotype. The study revealed that а) allo-HSCT should be performed in the treatment of both MDS variants; b) the outcomes of trisomy 8 treatment appeared to be better; c) children with monosomy 7 showed a higher rate of toxic complications in allo-HSCT.
Evaluation of BAALC-and WT1-expressing leukemic cell precursors in pediatric and adult patients with EVI1-positive AML by means of quantitative real-time polymerase chain reaction (RT-qPCR)
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