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.

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.

• Authors: 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
• Journal: Cold Spring Harbor molecular case studies (Cold Spring Harb Mol Case Stud) Vol. 9 Issue 1 (02 2023) ISSN: 2373-2873 [Electronic] United States
• PMID: 36627146 (Publication Type: Review, Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2023 Venable et al.; Published by Cold Spring Harbor Laboratory Press.

Chemical References

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

Topics

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