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

被引：0

作者：

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

机构：

[1] Careggi University Hospital,CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine

[2] University of Florence,Genetic Diagnostic Unit

[3] DENOTHE Excellence Center,Hematology Unit, Laboratory of Cytogenetics and Molecular Medicine

[4] Careggi University Hospital,Unit of Medical Genetics

[5] University of Perugia,undefined

[6] Meyer Children’s Hospital,undefined

来源：

Biomarker Research | / 9卷

关键词：

Primary eosinophilic disorders; Nanopore sequencing;

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摘要：

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.

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