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A novel ETV6 FGFR1 fusion gene Main text.pdf (365.03 KB)

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2024-03-01

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/216608

A novel ETV6::FGFR1 fusion gene in a myeloid/lymphoid neoplasm with FGFR1 rearrangement sensitive to specific FGFR1-2-3 inhibition

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https://doi.org/10.1080/10428194.2023.2295788

Resum

Myeloid/lymphoid neoplasms with FGFR1 rearrangement (FGFR1r) are rare entities, characterized by the aberrant expression of the tyrosine kinase involving the fibroblast growth factor receptor 1 (FGFR1) in a pluripotent, both myeloid and lymphoid, progenitor cell1. Clinical and hematological features are determined by the partner gene involved where patients with the same fusion gene tend to present a similar disease phenotype. Prognosis is poor and patients have an aggressive course, being allogeneic hematopoietic stem cell transplantation the only curative treatment nowadays2.Herein, we describe a myeloid/lymphoid neoplasm with ETV6::FGFR1 rearrangement refractory to intensive salvage chemotherapy, which showed response to specific inhibition of the abnormally activated FGFR1 tyrosine kinase with pemigatinib, a panFGFR1-2-3 inhibitor. To our knowledge, this is the first report of a myeloid/lymphoid neoplasm with FGFR1 rearrangement involving ETV6 as partner.

Matèries

Leucèmia mieloide, Terapèutica

Matèries (anglès)

Myeloid leukemia, Therapeutics

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Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

JIMÉNEZ VICENTE, Carlos, GARROTE ORDEIG, Marta, LÓPEZ-GUERRA, Mónica, VILLAMÓN, E., GUIJARRO TOMÀS, Francisca, PÉREZ VALENCIA, Amanda isabel, MARTÍNEZ ROCA, Alexandra patricia, BALAGUÉ PONZ, Olga, ÁLVAREZ LARRÁN, Alberto, HERNANDEZ BOLUDA, J. c., ROVIRA TARRATS, Montserrat, COLOMER PUJOL, Dolors, DÍAZ BEYÁ, Marina, ROZMAN JURADO, María, ESTEVE REYNER, Jordi. A novel ETV6::FGFR1 fusion gene in a myeloid/lymphoid neoplasm with FGFR1 rearrangement sensitive to specific FGFR1-2-3 inhibition. _Leukemia & Lymphoma_. 2024. Vol. 65, núm. 3, pàgs. 394-398. [consulta: 23 de gener de 2026]. ISSN: 1029-2403. [Disponible a: https://hdl.handle.net/2445/216608]

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