title: Diagnostic application of next-generation sequencing in ZMYM2-FGFR1 8p11 myeloproliferative syndrome: A case report.
abstract: The 8p11 myeloproliferative syndrome (EMS), also known as 8p11 myeloproliferative neoplasm (8p11 MPN), is a collection of rare hematologic malignancies that are associated with fusion genes involving the tyrosine kinase receptor gene FGFR1 in chromosome 8p11. The entity is an aggressive disease with a high rate of transformation to acute myeloid leukemia (AML) and pathologically characterized by its associated eosinophilia. In this study, we reported a distinctive EMS case featuring an in-frame ZMYM2-FGFR1 fusion gene identified by next-generation sequencing technology (NGS). This patient exhibited not only typical EMS signs including elevated white blood cells in peripheral blood and hypercellular bone marrow with marked leukocytosis, but also exceptional characteristics including erythrocytosis in blood and bone marrow basophilia. Moreover, we detected 2 novel genomic mutations in 2 known leukemogenic genes, IKZF1 and ASXL1. Whether these 2 mutations play a part in EMS pathogenesis or contribute to its specific presentations clinically remain to be determined. In summary, we present a unique EMS case involving a ZMYM2-FGFR1 fusion with distinctive hematologic characteristics.
authors.affiliation: a Institute of Hematology, Union Hospital, Tongji Medical College , Huazhong University of Science and Technology , Wuhan , Hubei , China.
authors.forename: Yadan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: a Institute of Hematology, Union Hospital, Tongji Medical College , Huazhong University of Science and Technology , Wuhan , Hubei , China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Wu
authors.affiliation: a Institute of Hematology, Union Hospital, Tongji Medical College , Huazhong University of Science and Technology , Wuhan , Hubei , China.
authors.forename: Jun
authors.initials: J
authors.lastname: Deng
authors.affiliation: b Shanghai Yuanqi Bio-pharmaceutical Company Ltd , Fengxian District, Shanghai , China.
authors.forename: Hao
authors.initials: H
authors.lastname: Yu
authors.affiliation: b Shanghai Yuanqi Bio-pharmaceutical Company Ltd , Fengxian District, Shanghai , China.
authors.forename: Ren
authors.initials: R
authors.lastname: Xu
authors.affiliation: b Shanghai Yuanqi Bio-pharmaceutical Company Ltd , Fengxian District, Shanghai , China.
authors.forename: Zhiyi
authors.initials: Z
authors.lastname: Zhu
authors.affiliation: b Shanghai Yuanqi Bio-pharmaceutical Company Ltd , Fengxian District, Shanghai , China.
authors.forename: Shichun
authors.initials: S
authors.lastname: Tu
authors.affiliation: a Institute of Hematology, Union Hospital, Tongji Medical College , Huazhong University of Science and Technology , Wuhan , Hubei , China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Hu
mesh_terms: D000595:Amino Acid Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors; C111777:ZMYM2 protein, human; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1
keywords: 8p11 myeloproliferative syndrome; ASXL1; IKZF1; ZMYM2-FGFR1; eosinophilia; gene rearrangement; leukocytosis; next-generation sequencing; whole-genome sequencing