Work

Identification and Confirmation of Myeloid/Lymphoid Neoplasms with Fibroblast Growth Factor Receptor 1 Rearrangement and Characterization of Treatment Patterns and Outcomes in a Real-World Setting: A US Retrospective Chart Review

Year: 2025

Type: article

Abstract: Introduction: Myeloid/lymphoid neoplasms with fibroblast growth factor receptor 1 rearrangement (MLN-FGFR1) are rare, heterogenous, aggressive hematologic malignancies with FGFR1 rearrangements at the 8p11 locus. Pemigatinib, a potent selective inhibitor of FGFR1-3, is approved for relapsed/refractory MLN-FGFR1. METHODS: This retrospective chart review included US adults with myeloproliferative neoplasm, unclassifiable (MPN-U), myelodysplastic syndrome (MDS)/MPN, post-MPN acute myelogenous leukemia, precursor T- or B-cell acute lymphoblastic leukemia/lymphoma, or mixed-phenotype acute leukemia with bone marrow biopsy and standard cytogenetic and/or molecular results. Probable cases of MLN-FGFR1 were identified and confirmed with cytogenetic or molecular testing results. Patient characteristics, diagnostic testing methods, treatments, and outcomes were abstracted. RESULTS: Of 560 submitted cases, 51 (9.1%) were probable MLN-FGFR1, 33 (5.9%) of which were subsequently confirmed. Among patients with confirmed MLN-FGFR1, 8p11 translocation or FGFR1 rearrangements were detected with standard cytogenetics in 72.7%, break-apart fluorescence in situ hybridization in 66.7%, next-generation sequencing in 21.2%, and real-time polymerase chain reaction in 6.1%. All but 1 patient initiated treatment; 3 patients underwent allogenic stem-cell transplant. CONCLUSION: This study highlights the importance of cytogenetic and molecular evaluations in patients with chronic/blast phase hematologic malignancies to diagnose MLN-FGFR1. This is particularly important following US approval of pemigatinib for this hematologic malignancy. .

Source: Acta Haematologica

DOI: 10.1159/000546910

Authors: Shreekant Parasuraman, Kimberly Saverno, Kristin M. Zimmerman Savill, Philomena Colucci

Institutions: Incyte (United States), Cardinal Health (United States)

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funder: Incyte