Identification of novel NUP98::RARA fusion transcripts in acute promyelocytic leukemia with i(17)(q10) abnormality.

IF 3.6 3区医学 Q2 ONCOLOGY

American journal of cancer research Pub Date : 2025-04-25 eCollection Date: 2025-01-01 DOI:10.62347/UKFC7557

Jifang Tu, Huanping Wang, Yungui Wang, Hongyan Tong

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引用次数: 0

Abstract

Acute promyelocytic leukemia (APL) is one subtype of acute myeloid leukemia (AML) primarily associated with the typical fusion gene PML::RARA/t(15;17). A small percentage of APL cases are caused by atypical gene transcript variants lacking the PML::RARA. We report one case with two novel NUP98::RARA fusion transcripts in APL lacking the fusion gene PML::RARA/t(15;17). These NUP98::RARA fusion transcripts were identified using next-generation sequencing (NGS), which were confirmed by Sanger sequencing. One of the transcripts differs from the previously reported transcript in terms of break sites and transcript length, which identified as subtype of NUP98::RARA fusion transcript. The other one is the same as previously reported, demonstrating reproducible abnormality of this fusion gene. The patient was treated with all-trans retinoic acid (ATRA), realgar-Indigo naturalis formula (RIF) and chemotherapy. According to the published paper, this is the second report of NUP98::RARA fusion transcript in APL. It is also the first variant APL with der(11)(p15)t(11;17)(p15;q21) and i(17)(q10) chromosome abnormalities. Therefore, we compared and summarized these two cases.

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新型NUP98::RARA融合转录物在i(17)（q10）异常的急性早幼粒细胞白血病中的鉴定

急性早幼粒细胞白血病（APL）是急性髓性白血病（AML）的一种亚型，主要与典型融合基因PML::RARA/t相关（15;17）。一小部分APL病例是由缺乏PML::RARA的非典型基因转录变体引起的。我们报告了一例在APL中缺乏融合基因PML::RARA/t的两个新型NUP98::RARA融合转录物（15;17）。这些NUP98::RARA融合转录本通过下一代测序（NGS）鉴定，并通过Sanger测序证实。其中一个转录本在断裂位点和转录本长度上与先前报道的转录本不同，该转录本被鉴定为NUP98::RARA融合转录本亚型。另一个与先前报道的相同，证明了该融合基因的可复制异常。患者给予全反式维甲酸（ATRA）、雄黄-靛蓝天然配方（RIF）和化疗。根据已发表的论文，这是NUP98::RARA融合转录物在APL中的第二篇报道。它也是第一个具有der(11)(p15)t(11;17)（p15;q21）和i(17)（q10）染色体异常的变异型APL。因此，我们对这两个案例进行了比较和总结。

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来源期刊

American journal of cancer research ONCOLOGY-

自引率

3.80%

发文量

263

期刊介绍： The American Journal of Cancer Research (AJCR) (ISSN 2156-6976), is an independent open access, online only journal to facilitate rapid dissemination of novel discoveries in basic science and treatment of cancer. It was founded by a group of scientists for cancer research and clinical academic oncologists from around the world, who are devoted to the promotion and advancement of our understanding of the cancer and its treatment. The scope of AJCR is intended to encompass that of multi-disciplinary researchers from any scientific discipline where the primary focus of the research is to increase and integrate knowledge about etiology and molecular mechanisms of carcinogenesis with the ultimate aim of advancing the cure and prevention of this increasingly devastating disease. To achieve these aims AJCR will publish review articles, original articles and new techniques in cancer research and therapy. It will also publish hypothesis, case reports and letter to the editor. Unlike most other open access online journals, AJCR will keep most of the traditional features of paper print that we are all familiar with, such as continuous volume, issue numbers, as well as continuous page numbers to retain our comfortable familiarity towards an academic journal.