<i>TMEM91::TAL1</i> Fusion gene in a middle-aged female with rapid MDS to secondary AML progression: a case report

The <i>TMEM91::TAL1</i> fusion (resulting from a breakpoint at exon 3 of <i>TMEM91</i> and exon 5 of <i>TAL1</i>) was detected by RNA-seq while not detected by whole genome sequencing. The expression of <i>TMEM91::TAL1</i> fusion increased with the progression from MDS to sAML and was eliminated after HSCT. This case illustrates the value of comprehensive molecular profiling, including RNA-seq, in cases of rapidly progressive MDS that cannot be diagnosed through standard molecular diagnostics. The temporal relationship between expression of the fusions and disease progression warrants additional studies of <i>TMEM91::TAL1</i> in myeloid malignancies.