病例报告：在缺乏RARA重排的急性早幼粒细胞白血病中鉴定出一种新型HNRNPC::RARG融合基因。
Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement.
作者信息
Ding Wenjing, Weng Guangyang, Wang Zheng, Guo Yusha, Wang Man, Shen Hongjie, Chen Suning, Du Xin, Wen Lijun
机构信息
Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China.
Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
出版信息
Front Oncol. 2023 Jan 9;12:1028651. doi: 10.3389/fonc.2022.1028651. eCollection 2022.
Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), 95% patients have PML-RARA fusion gene as a result of a reciprocal chromosomal translocation t(15;17)(q22; q21). The retinoic acid receptors (RARs) belong to nuclear hormone receptors which modulate the transcription of DNA elements. RARs have three isoforms: retinoic acid receptor alpha (RARA), retinoic acid receptor beta (RARB) and retinoic acid receptor gamma (RARG). In this study, we describe the experimental results of a case with HNRNPC::RARG gene transcript with morphologic and immunophenotypic features similar to APL, including bone marrow morphology and immunophenotype, which showed poor response to ATO and chemotherapy. Then the patient achieved remission under the combination of BCL-2 inhibitor (Venetoclax) and standard 7 + 3 chemotherapy in second induction chemotherapy. The treatment in this case demonstrated effective response to Venetoclax, which suggested its possible role for the patient with acute promyelocytic-like leukemias (APLL).
急性早幼粒细胞白血病（APL）是急性髓系白血病（AML）的一种特殊亚型，95%的患者因15号和17号染色体相互易位t(15;17)(q22;q21)而具有PML-RARA融合基因。维甲酸受体（RARs）属于核激素受体，可调节DNA元件的转录。RARs有三种亚型：维甲酸受体α（RARA）、维甲酸受体β（RARB）和维甲酸受体γ（RARG）。在本研究中，我们描述了一例具有HNRNPC::RARG基因转录本的病例的实验结果，其形态学和免疫表型特征与APL相似，包括骨髓形态和免疫表型，该病例对三氧化二砷（ATO）和化疗反应不佳。然后，在第二次诱导化疗中，该患者在BCL-2抑制剂（维奈克拉）与标准的7+3化疗联合治疗下实现了缓解。该病例的治疗显示对维奈克拉有有效反应，这表明其对急性早幼粒细胞样白血病（APLL）患者可能具有作用。
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