Whole exome sequencing analysis of a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions with ETV6::LYN fusion gene.

IF 3 3区 医学 Q2 HEMATOLOGY
Rika Hosoba, Suguru Fukuhara, Yasunori Kogure, Kosuke Takano, Maki Shibata, Toshikatsu Horiuchi, Shinichi Kobayashi, Shinichi Makita, Noriko Iwaki, Wataru Munakata, Akiko Miyagi Maeshima, Fumihiko Kimura, Keisuke Kataoka, Koji Izutsu
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引用次数: 0

Abstract

ETV6::LYN fusion gene is recognized as one of the genetic alterations responsible for myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) according to the 2022 WHO classification. However, the clinical features and pathogenesis of MLN-TK with ETV6::LYN are not well defined because of the rarity of the disease. Here, we report an MLN-TK patient with ETV6::LYN that manifested as myeloproliferative neoplasms (MPN) with eosinophilia, myelofibrosis, and T-lymphoblastic lymphoma (T-LBL), which eventually led to acute myeloid leukemia. Targeted RNA sequencing of both lymph node specimens diagnosed with T-LBL and bone marrow specimens diagnosed with MPN specimens detected an identical ETV6::LYN fusion gene. Whole exome sequencing (WES) detected several identical missense and nonsense mutations in both specimens. Detected mutations were not found to be relevant to pathogenesis of T-LBL and MPN in previous reports and were considered variants of uncertain significance. Based on the WES results, ETV6::LYN fusion gene was considered the driver gene essential for the pathogenesis of MPN-TK with ETV6::LYN.

对一名患有嗜酸性粒细胞增多症和酪氨酸激酶基因融合(ETV6::LYN融合基因)的髓样/淋巴样肿瘤患者进行全外显子组测序分析。
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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
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