Identification of a novel TNRC18-RARA fusion in acute promyelocytic leukemia lacking t(15;17)(q24;q12)/PML-RARA. 2021

Zheng Wang, and Lijun Wen, and Ling Zhang, and Xiaoyu Xu, and Xiaoqian Chen, and Li Yao, and Man Wang, and Zhen Shen, and Guangquan Mo, and Yao Wang, and Dewan Zhao, and Wei Cai, and Jingzhi Shen, and Xiaomeng Chi, and Yi Xu, and Zhao Zeng, and Jinlan Pan, and Changgeng Ruan, and Depei Wu, and Zhilin Jia, and Suning Chen
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, P.R. China.

Acute promyelocytic leukemia (APL) is a unique disease entity in acute myeloid leukemia, characterized by PML-RARA fusion gene, which is generated by chromosomal translocation t(15;17)(q24;q21). We identified TNRC18-RARA as novel RARA fusion in resembling APL. Our study highlights the importance of combining multiple molecular techniques to characterize and optimally manage APL lacking classic t(15;17)(q24;q12)/PML-RARA fusion.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002884 Chromosomes, Human, Pair 15 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 15
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000072482 Retinoic Acid Receptor alpha A nuclear receptor protein which belongs to a family of transcription regulators of ligand-responsive regulatory proteins which include steroid hormone receptors. In addition to a C-terminal ligand-binding domain, these nuclear receptors contain a highly-conserved N-terminal zinc-finger domain that mediates binding ligand-responsive elements. RAR alpha 1,RAR alpha 2,Retinoic Acid Receptor alpha 1,Retinoic Acid Receptor alpha 2,alpha 1, RAR,alpha 2, RAR
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D015473 Leukemia, Promyelocytic, Acute An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION. Leukemia, Myeloid, Acute, M3,Leukemia, Progranulocytic,Myeloid Leukemia, Acute, M3,Progranulocytic Leukemia,Promyelocytic Leukemia, Acute,AML M3,Acute Promyelocytic Leukemia,Leukemia, Acute Promyelocytic,M3 ANLL,ANLL, M3,Acute Promyelocytic Leukemias
D015514 Oncogene Proteins, Fusion The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin. Chimeric Oncogene Proteins,Chimeric Proteins, Oncogene,Fusion Proteins, Oncogene,Oncogene Fusion Proteins,Oncogene Proteins, Chimeric,Fusion Oncogene Proteins,Oncogene Chimeric Proteins,Proteins, Chimeric Oncogene,Proteins, Fusion Oncogene,Proteins, Oncogene Chimeric,Proteins, Oncogene Fusion
D015973 Gene Expression Regulation, Leukemic Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in leukemia. Leukemic Gene Expression Regulation,Regulation of Gene Expression, Leukemic,Regulation, Gene Expression, Leukemic

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