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

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 eosinop...

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Autores principales:	Simone Romagnoli, Niccolò Bartalucci, Francesca Gesullo, Manjola Balliu, Stefania Bonifacio, Anair Graciela Lema Fernandez, Francesco Mannelli, Davide Bolognini, Elisabetta Pelo, Cristina Mecucci, Paola Guglielmelli, Alessandro Maria Vannucchi
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Primary eosinophilic disorders Nanopore sequencing PDGFRα PDGFRβ FGFR1 Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/2cb5613752aa465190f5af029dc11685
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spelling	oai:doaj.org-article:2cb5613752aa465190f5af029dc116852021-11-14T12:10:20ZNanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK210.1186/s40364-021-00337-12050-7771https://doaj.org/article/2cb5613752aa465190f5af029dc116852021-11-01T00:00:00Zhttps://doi.org/10.1186/s40364-021-00337-1https://doaj.org/toc/2050-7771Abstract 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.Simone RomagnoliNiccolò BartalucciFrancesca GesulloManjola BalliuStefania BonifacioAnair Graciela Lema FernandezFrancesco MannelliDavide BologniniElisabetta PeloCristina MecucciPaola GuglielmelliAlessandro Maria VannucchiBMCarticlePrimary eosinophilic disordersNanopore sequencingPDGFRαPDGFRβFGFR1Therapeutics. PharmacologyRM1-950ENBiomarker Research, Vol 9, Iss 1, Pp 1-4 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Primary eosinophilic disorders Nanopore sequencing PDGFRα PDGFRβ FGFR1 Therapeutics. Pharmacology RM1-950
spellingShingle	Primary eosinophilic disorders Nanopore sequencing PDGFRα PDGFRβ FGFR1 Therapeutics. Pharmacology RM1-950 Simone Romagnoli Niccolò Bartalucci Francesca Gesullo Manjola Balliu Stefania Bonifacio Anair Graciela Lema Fernandez Francesco Mannelli Davide Bolognini Elisabetta Pelo Cristina Mecucci Paola Guglielmelli Alessandro Maria Vannucchi Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
description	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.
format	article
author	Simone Romagnoli Niccolò Bartalucci Francesca Gesullo Manjola Balliu Stefania Bonifacio Anair Graciela Lema Fernandez Francesco Mannelli Davide Bolognini Elisabetta Pelo Cristina Mecucci Paola Guglielmelli Alessandro Maria Vannucchi
author_facet	Simone Romagnoli Niccolò Bartalucci Francesca Gesullo Manjola Balliu Stefania Bonifacio Anair Graciela Lema Fernandez Francesco Mannelli Davide Bolognini Elisabetta Pelo Cristina Mecucci Paola Guglielmelli Alessandro Maria Vannucchi
author_sort	Simone Romagnoli
title	Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
title_short	Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
title_full	Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
title_fullStr	Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
title_full_unstemmed	Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
title_sort	nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of pdgfrα, pdgfrβ, fgfr1 or pcm1-jak2
publisher	BMC
publishDate	2021
url	https://doaj.org/article/2cb5613752aa465190f5af029dc11685
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Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2

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