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DOI 10.1101/mcs.a006243

Медицинская библиотека · Cold Spring Harbor molecular case studies · 2023

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.

Venable Elise R, Gagnon Marie-France, Pitel Beth A, Palmer Jeanne M, Peterson Jess F, Baughn Linda B, Hoppman Nicole L, Greipp Patricia T, Ketterling Rhett P, Patnaik Mrinal S, Kelemen Katalin, Xu Xinjie

ОбзорКлинический случайСтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Venable Elise R, Gagnon Marie-France, Pitel Beth A, Palmer Jeanne M, Peterson Jess F, Baughn Linda B, Hoppman Nicole L, Greipp Patricia T, Ketterling Rhett P, Patnaik Mrinal S, Kelemen Katalin, Xu Xinjie. 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 Harbor molecular case studies. 2023. DOI: 10.1101/mcs.a006243.

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