Eosinophilia 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.

Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2 / Romagnoli S.; Bartalucci N.; Gesullo F.; Balliu M.; Bonifacio S.; Fernandez A.G.L.; Mannelli F.; Bolognini D.; Pelo E.; Mecucci C.; Guglielmelli P.; Vannucchi A.M.. - In: BIOMARKER RESEARCH. - ISSN 2050-7771. - ELETTRONICO. - 9:(2021), pp. 83-86. [10.1186/s40364-021-00337-1]

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

Romagnoli S.;Bartalucci N.;Gesullo F.;Balliu M.;Mannelli F.;Bolognini D.;Pelo E.;Guglielmelli P.;Vannucchi A. M.
2021

Abstract

Eosinophilia 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.
2021
9
83
86
Romagnoli S.; Bartalucci N.; Gesullo F.; Balliu M.; Bonifacio S.; Fernandez A.G.L.; Mannelli F.; Bolognini D.; Pelo E.; Mecucci C.; Guglielmelli P.; V...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1257085
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