A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2023-02-01 DOI:10.1101/mcs.a006243
Elise R Venable, Marie-France Gagnon, Beth A Pitel, Jeanne M Palmer, Jess F Peterson, Linda B Baughn, Nicole L Hoppman, Patricia T Greipp, Rhett P Ketterling, Mrinal S Patnaik, Katalin Kelemen, Xinjie Xu
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引用次数: 1

Abstract

Myeloid/lymphoid neoplasms with FLT3 gene fusions have recently been included among myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) in the World Health Organization classification and International Consensus Classification. As this entity remains remarkably rare, its scope and phenotypic features are evolving. In this report, we describe a 33-yr-old male with MLN-TK. Conventional chromosome analysis revealed a t(13;14)(q12;q32). Further analysis with mate-pair sequencing (MPseq) confirmed a TRIP11::FLT3 gene fusion. A diagnosis of MLN-TK was rendered. To the best of our knowledge, we report the third case of MLN-TK with a TRIP11::FLT3 gene fusion. In contrast to previously described cases, our case exhibited distinctly mild clinical features and disease behavior, emphasizing the diverse spectrum of MLN-TK at primary presentation and variability in disease course. MLN-TK with FLT3 gene fusions are a genetically defined entity which may be targetable with tyrosine kinase inhibitors with anti-FLT3 activity. Accordingly, from diagnostic and therapeutic viewpoints, genetic testing for FLT3 rearrangements using fluorescence in situ hybridization (FISH) or sequencing-based assays should be pursued for patients with chronic eosinophilia.

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骨髓/淋巴肿瘤伴嗜酸性粒细胞增多和酪氨酸激酶基因融合患者的TRIP11:: FLT3基因融合:1例报告和文献复习
最近,FLT3基因融合的髓系/淋巴肿瘤已被列入嗜酸性粒细胞增多和酪氨酸激酶基因融合(MLN-TK)的髓系/淋巴肿瘤的世界卫生组织分类和国际共识分类。由于这种实体仍然非常罕见,其范围和表型特征正在演变。在这个报告中,我们描述了一个33岁的男性与MLN-TK。常规染色体分析显示t(13;14)(q12;q32)。进一步的配对测序(MPseq)分析证实了TRIP11::FLT3基因融合。诊断为MLN-TK。据我们所知,我们报告了第三例与TRIP11::FLT3基因融合的MLN-TK病例。与先前描述的病例相比,本病例表现出明显轻微的临床特征和疾病行为,强调了MLN-TK在原发性表现和病程中的多样性。与FLT3基因融合的MLN-TK是一种基因定义的实体,可能是具有抗FLT3活性的酪氨酸激酶抑制剂的靶标。因此,从诊断和治疗的角度来看,对于慢性嗜酸性粒细胞增多症患者,应采用荧光原位杂交(FISH)或基于测序的检测方法对FLT3重排进行基因检测。
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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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