Clinical Laboratory of Medicine, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou, Hainan, China.
Suzhou Sano Precision Medicine Ltd, Suzhou, China.
Genes Chromosomes Cancer. 2022 Aug;61(8):503-508. doi: 10.1002/gcc.23051. Epub 2022 May 19.
:ERG rearrangement is a recurrent abnormality seen in a subgroup of acute myeloid leukemia (AML) with a poor prognosis. We described here a novel HNRNPH1::ERG rearrangement in a de novo AML. The patient was unresponsive to routine chemotherapy and succumbed to the disease just 3 months after diagnosis. Two additional cases of AML with HNRNPH1::ERG rearrangement were discovered by searching a publicly available sequencing database. The three patients share several clinical phenotypes with the FUS::ERG rearranged AML, including high blast count at diagnosis, pediatric or young adult-onset, and poor overall survival. In addition, hnRNPH1 and FUS are both hnRNP family members, a group of RNA-binding proteins functioning in RNA metabolism and transport. Therefore, we suggest that patients with HNRNPH1::ERG or FUS::ERG rearrangement belong to the same distinct clinicopathologic subtype of AML, that is, AML with ERG rearrangement. Based on a previous study showing that FUS::ERG binds to the retinoic acid-responsive elements and that all-trans retinoic acid-induced cell differentiation of AML cells, we support the clinical evaluation of an APL-like therapeutic regimen for AML with ERG rearrangement.
:ERG 重排是一组预后不良的急性髓系白血病（AML）亚群中常见的复发性异常。我们在这里描述了一种新的 HNRNPH1::ERG 重排在初发 AML 中的发生。该患者对常规化疗无反应，仅在诊断后 3 个月就死于该病。通过搜索公开可用的测序数据库，发现了另外两例 HNRNPH1::ERG 重排的 AML 病例。这三例患者与 FUS::ERG 重排 AML 具有多种共同的临床表型，包括诊断时高原始细胞计数、儿童或青年发病以及整体生存不良。此外，hnRNPH1 和 FUS 均为 hnRNP 家族成员，这是一组在 RNA 代谢和运输中发挥作用的 RNA 结合蛋白。因此，我们建议 HNRNPH1::ERG 或 FUS::ERG 重排的患者属于 AML 的相同独特临床病理亚型，即 AML 伴 ERG 重排。基于先前的一项研究表明，FUS::ERG 与维甲酸反应元件结合，并且全反式维甲酸诱导 AML 细胞的细胞分化，我们支持对 ERG 重排的 AML 进行 APL 样治疗方案的临床评估。
