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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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Recurs relacionat

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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Col·leccions

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

Citació

JIMÉNEZ VICENTE, Carlos, et al. 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, num. 3, pags. 394-398. ISSN 1029-2403. [consulted: 19 of August of 2026]. Available at: https://hdl.handle.net/2445/216608

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