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

Biomarker Research

Alessandro Maria Vannucchi¹  Simone Romagnoli¹  Francesca Gesullo¹  Francesco Mannelli¹  Niccolò Bartalucci¹  Manjola Balliu¹  Paola Guglielmelli¹  Stefania Bonifacio²  Elisabetta Pelo²  Cristina Mecucci³  Anair Graciela Lema Fernandez³  Davide Bolognini⁴ 

[1] CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy;Genetic Diagnostic Unit, Careggi University Hospital, Florence, Italy;Hematology Unit, Laboratory of Cytogenetics and Molecular Medicine, University of Perugia, Perugia, Italy;Unit of Medical Genetics, Meyer Children’s Hospital, Florence, Italy;

关键词: Primary eosinophilic disorders;    Nanopore sequencing;    PDGFRα;    PDGFRβ;    FGFR1;   

DOI  :  10.1186/s40364-021-00337-1

来源: Springer

【 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.

【 授权许可】

CC BY