First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia

This is the first report of a patient with de novo AML carrying the NUP98-PMX1 fusion gene. Next-generation sequencing analysis revealed FMS-like tyrosine kinase-3 (FLT3)-internal tandem duplication (ITD) and neuroblastoma RAS (NRAS) mutations.

本研究首次报道1例携带NUP98-PMX1融合基因的新发急性髓系白血病（de novo AML）患者。经下一代测序分析，检出FMS样酪氨酸激酶3（FMS-like tyrosine kinase-3, FLT3）内部串联重复（internal tandem duplication, ITD）以及神经母细胞瘤RAS（neuroblastoma RAS, NRAS）突变。