A rare cytogenetically cryptic rearrangement in a patient with myelodysplastic neoplasm and mutation identified by RNA sequencing: a case report.

(the and complex locus) rearrangements have been identified as an independent high-risk factor in acute myeloid leukemia (AML). The diversity of rearrangement partner genes significantly influences disease mechanisms and prognosis. The majority of atypical rearrangements result in overexpression through translocation into super-enhancer-containing regions. This report describes a rare, recurrent :: rearrangement identified in a myelodysplastic neoplasm (MDS) patient with a concurrent mutation. Although conventional cytogenetics showed a normal karyotype, the rearrangement was confirmed by next-generation sequencing (NGS) and fluorescence hybridization (FISH). Concurrently, the patient exhibited high expression, consistent with the common mechanism observed in atypical rearrangements. Given the well-documented association between mutations and rearrangements, analysis of expression and RNA sequencing (RNA-seq) is crucial for -mutated patients, even in the absence of elevated blast counts. Furthermore, this case underscores the need for further research into the synergistic biological role of spliceosome mutations and rearrangements in driving leukemia.