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

Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006243. doi: 10.1101/mcs.a006243. Print 2023 Feb.

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.

Keywords: eosinophilia; hematological neoplasm; malignant eosinophil proliferation.

Publication types

  • Review
  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cytoskeletal Proteins / genetics
  • Eosinophilia* / genetics
  • Gene Fusion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma* / genetics
  • Male
  • Myeloproliferative Disorders* / diagnosis
  • Myeloproliferative Disorders* / drug therapy
  • Myeloproliferative Disorders* / genetics
  • Oncogene Proteins, Fusion / genetics
  • Protein-Tyrosine Kinases
  • fms-Like Tyrosine Kinase 3 / genetics

Substances

  • Cytoskeletal Proteins
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3
  • Oncogene Proteins, Fusion
  • Protein-Tyrosine Kinases
  • TRIP11 protein, human