监测NUP98:: nsd1阳性急性髓性白血病中可测量的残留疾病。

IF 1 4区医学 Q3 PEDIATRICS

Pediatrics International Pub Date : 2025-01-01 DOI:10.1111/ped.15859

Ikuo Okuchi, Akira Nishimura, Takahiro Kamiya, Makiko Sasaki, Motoi Yamashita, Akihiro Hoshino, Michiko Kajiwara, Takeshi Isoda, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi

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引用次数: 0

摘要

背景：在预后不良的急性髓系白血病（AML）亚群中检测到NUP98融合基因。因此，应确定适当的治疗方法。根据最小残留病（MRD）水平加强治疗可使急性淋巴细胞白血病（ALL）患者预后更好。然而，MRD监测在nup98阳性AML患者中的重要性尚不清楚。方法：建立数字液滴聚合酶链反应（ddPCR）检测NUP98:: nsd1阳性白血病细胞的方法，并将其与NUP98分裂荧光原位杂交（FISH）结果进行比较。结果：NUP98::NSD1 ddPCR结果与NUP98分裂FISH结果相关，且比NUP98分裂FISH结果更敏感。ddPCR的灵敏度为0.001%，相当于1 × 105个细胞中有1个。ddPCR检测NUP98::NSD1的MRD水平与复发有良好的相关性。结论：利用ddPCR靶向NUP98::NSD1嵌合体mRNA进行MRD监测有利于NUP98::NSD1 AML的治疗。

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Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia.

Background: NUP98 fusion genes are detected in acute myeloid leukemia (AML) subgroups that have a poor prognosis. An appropriate therapeutic approach should therefore be established. Treatment intensification according to the minimal residual disease (MRD) level can lead to a better prognosis in patients with acute lymphoblastic leukemia (ALL). However, the importance of MRD monitoring in the patient with NUP98-positive AML is unclear.

Methods: This study aimed to develop a digital droplet polymerase chain reaction (ddPCR) method for monitoring NUP98::NSD1-positive leukemic cells and to report its utility compared with the results of NUP98 split fluorescence in situ hybridization (FISH).

Results: The results of NUP98::NSD1 ddPCR correlated with those of NUP98 split FISH and were more sensitive than NUP98 split FISH. The sensitivity of ddPCR was 0.001%, equivalent to 1 in 1 × 10⁵ cells. The MRD level of NUP98::NSD1, measured by ddPCR, correlated well with relapse.

Conclusion: The use of ddPCR to target NUP98::NSD1 chimera mRNA for MRD monitoring would be beneficial for NUP98::NSD1 AML treatment.

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来源期刊

Pediatrics International 医学-小儿科

CiteScore

2.00

自引率

7.10%

发文量

519

审稿时长

12 months

期刊介绍： Publishing articles of scientific excellence in pediatrics and child health delivery, Pediatrics International aims to encourage those involved in the research, practice and delivery of child health to share their experiences, ideas and achievements. Formerly Acta Paediatrica Japonica, the change in name in 1999 to Pediatrics International, reflects the Journal''s international status both in readership and contributions (approximately 45% of articles published are from non-Japanese authors). The Editors continue their strong commitment to the sharing of scientific information for the benefit of children everywhere. Pediatrics International opens the door to all authors throughout the world. Manuscripts are judged by two experts solely upon the basis of their contribution of original data, original ideas and their presentation.