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

Media type: E-Article
Title: Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
Contributor: 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
imprint: Springer Science and Business Media LLC, 2021
Published in: Biomarker Research
Language: English
DOI: 10.1186/s40364-021-00337-1
ISSN: 2050-7771
Keywords: Biochemistry (medical) ; Clinical Biochemistry ; Molecular Medicine
Origination:
Footnote:
Description: <jats:title>Abstract</jats:title><jats:p>Eosinophilia represents a group of diseases with heterogeneous pathobiology and clinical phenotypes. Among the alterations found in primary Eosinophilia, gene fusions involving <jats:italic>PDGFRα</jats:italic>, <jats:italic>PDGFRβ</jats:italic>, <jats:italic>FGFR1</jats:italic> or <jats:italic>JAK2</jats:italic> 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.</jats:p>
Access State: Open Access

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