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.

Autor:	Venable ER; Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Gagnon MF; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Pitel BA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Palmer JM; Division of Hematology and Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona 85054, USA., Peterson JF; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Rochester, Minnesota 55905, USA., Baughn LB; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Rochester, Minnesota 55905, USA., Hoppman NL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Greipp PT; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Rochester, Minnesota 55905, USA., Ketterling RP; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Rochester, Minnesota 55905, USA., Patnaik MS; Division of Hematology and Oncology, Department of Medicine Mayo Clinic, Rochester, Minnesota 55905, USA., Kelemen K; Division of Hematopathology, Department of Laboratory Medicine and Pathology; Mayo Clinic, Phoenix, Arizona 85054, USA., Xu X; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Rochester, Minnesota 55905, USA; Xu.Xinjie@mayo.edu.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 Mar 24; Vol. 9 (1). Date of Electronic Publication: 2023 Mar 24 (Print Publication: 2023).
DOI:	10.1101/mcs.a006243
Abstrakt:	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. (© 2023 Venable et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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