Department of Genetics, Portuguese Oncology Institute, Rua Dr, António Bernardino de Almeida, 4200-072, Porto, Portugal.
Mol Cancer. 2013 Jan 18;12:5. doi: 10.1186/1476-4598-12-5.
NUP98 gene rearrangements have been reported in acute myeloid leukemia, giving rise to fusion proteins that seem to function as aberrant transcription factors, and are thought to be associated with poor prognosis.
A patient with treatment-related acute myeloid leukemia presented a t(3;11)(p11;p15) as the only cytogenetic abnormality. FISH and molecular genetic analyses identified a class 1 homeobox gene, POU1F1, located on chromosome 3p11, as the fusion partner of NUP98. In addition, we have found that the patient harbored an FLT3-ITD mutation, which most likely collaborated with the NUP98-POU1F1 fusion gene in malignant transformation.
We have identified POU1F1 as the NUP98 fusion partner in therapy-related AML with a t(3;11)(p11;p15). This is the first POU family member identified as a fusion partner in human cancer.
NUP98 基因重排已在急性髓系白血病中报道，导致融合蛋白似乎作为异常转录因子发挥作用，并且被认为与预后不良相关。
一位治疗相关的急性髓系白血病患者仅表现出 t(3;11)(p11;p15)作为唯一的细胞遗传学异常。FISH 和分子遗传学分析确定了位于 3p11 上的一类 homeobox 基因 POU1F1 作为 NUP98 的融合伙伴。此外，我们发现患者还存在 FLT3-ITD 突变，该突变很可能与 NUP98-POU1F1 融合基因共同导致恶性转化。
我们已经确定 POU1F1 是 t(3;11)(p11;p15)治疗相关急性髓系白血病中的 NUP98 融合伙伴。这是第一个被鉴定为人类癌症融合伙伴的 POU 家族成员。
