Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2

Medientyp: E-Artikel

Titel: Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2

Beteiligte: Romagnoli, Simone; Bartalucci, Niccolò; Gesullo, Francesca; Balliu, Manjola; Bonifacio, Stefania; Fernandez, Anair Graciela Lema; Mannelli, Francesco; Bolognini, Davide; Pelo, Elisabetta; Mecucci, Cristina; Guglielmelli, Paola; Vannucchi, Alessandro Maria

Erschienen: Springer Science and Business Media LLC, 2021

Sprache: Englisch

DOI: 10.1186/s40364-021-00337-1

ISSN: 2050-7771

Schlagwörter: Biochemistry (medical) ; Clinical Biochemistry ; Molecular Medicine

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Beschreibung: AbstractEosinophilia represents a group of diseases with heterogeneous pathobiology and clinical phenotypes. Among the alterations found in primary Eosinophilia, gene fusions involving PDGFRα, PDGFRβ, FGFR1 or JAK2 represent the biomarkers of WHO-defined “myeloid and lymphoid neoplasms with eosinophilia”. The heterogeneous nature of genomic aberrations and the promiscuity of fusion partners, may limit the diagnostic accuracy of current cytogenetics approaches. To address such technical challenges, we exploited a nanopore-based sequencing assay to screen patients with primary Eosinophilia. The comprehensive sequencing approach described here enables the identification of genomic fusion in 60 h, starting from DNA purified from whole blood.

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