First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
复制标题
首例新发急性髓系白血病NUP98-PMX1重排病例报告及文献复习
DOI：
10.1186/s12920-021-00979-y
复制
发表时间：
2021-05-17
影响因子：
2.7
通讯作者：
Ni X
中科院分区：
文献类型：
--
作者：
Fu W;Huang A;Cheng H;Luo Y;Gao L;Tang G;Yang J;Wang J;Ni X
背景
核孔蛋白98（NUP 98）-配对相关同源异型盒1（PMX 1）融合基因是由t（1;11）（q23;p15）引起的，在急性髓系白血病（AML）患者中很少见。目前，仅报告了两例处于加速期或急变期的慢性粒细胞白血病和三例治疗相关的AML。在这里，我们首先报告了一个病人与初发急性髓细胞白血病携带NUP 98-PMX 1融合基因。
个案列报
一名49岁男性被诊断为AML，骨髓（BM）细胞核型为46，XY，t（1;11）（q23;p15）[20]。荧光原位杂交分析显示了典型的信号模式。逆转录-聚合酶链反应（RT-PCR）分析表明NUP 98-PMX 1融合转录本的存在。患者接受依达比加群酯和阿糖胞苷作为诱导化疗。3周后，骨髓穿刺显示完全缓解，NUP 98-PMX 1融合基因的RT-PCR结果为阴性。随后，患者接受了3个周期的高剂量Ara-c作为巩固化疗，之后他接受了部分匹配（人类白细胞抗原-DP位点不匹配）的非相关异基因造血干细胞移植（HSCT）。随访期于2020年9月30日（HSCT后6个月）结束，患者未出现复发或移植相关并发症。
结论
这是首次报道携带NUP 98-PMX 1融合基因的新发AML患者。报告的情况下，可能有助于NUP 98-PMX 1重排的更全面的配置文件，但机制的研究是必要的，以充分了解这种融合基因在白血病发病机制中的作用。
Background
The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid leukemia in the accelerated phase or blast crisis and three cases of therapy-related AML have been reported. Here, we first report a patient with de novo AML carrying the NUP98-PMX1 fusion gene.
Case presentation
A 49-year-old man diagnosed with AML presented the karyotype 46,XY,t(1;11)(q23;p15)[20] in bone marrow (BM) cells. Fluorescence in situ hybridization analysis using dual-color break-apart probes showed the typical signal pattern. Reverse transcription-polymerase chain reaction (RT-PCR) analysis suggested the presence of the NUP98-PMX1 fusion transcript. The patient received idarubicin and cytarabine as induction chemotherapy. After 3 weeks, the BM aspirate showed complete remission, and the RT-PCR result for the NUP98-PMX1 fusion gene was negative. Subsequently, the patient received three cycles of high-dose Ara-c as consolidation chemotherapy, after which he underwent partially matched (human leukocyte antigen–DP locus mismatch) unrelated allogeneic hematopoietic stem cell transplantation (HSCT). The follow-up period ended on September 30, 2020 (6 months after HSCT), and the patient exhibited no recurrence or transplantation-related complications.
Conclusion
This is the first report of a patient with de novo AML carrying the NUP98-PMX1 fusion gene. The reported case may contribute to a more comprehensive profile of the NUP98-PMX1 rearrangement, but mechanistic studies are warranted to fully understand the role of this fusion gene in leukemia pathogenesis.
登录
查看更多内容
影响因子：
20.3
作者：
Ostronoff, Fabiana;Othus, Megan;Meshinchi, Soheil
通讯作者：
Meshinchi, Soheil
DOI：
10.1073/pnas.96.20.11370
发表时间：
1999-09-28
影响因子：
11.1
作者：
Rosenblum, JS;Blobel, G
通讯作者：
Blobel, G
影响因子：
64.5
作者：
RADU, A;MOORE, MS;BLOBEL, G
通讯作者：
BLOBEL, G
影响因子：
--
作者：
Zhang, Ling;Alsabeh, Randa;Schreck, Rhona
通讯作者：
Schreck, Rhona
影响因子：
10.1
作者：
Thanasopoulou, Angeliki;Tzankov, Alexandar;Schwaller, Juerg
通讯作者：
Schwaller, Juerg