{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T04:49:37Z","timestamp":1772858977478,"version":"3.50.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T00:00:00Z","timestamp":1636675200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T00:00:00Z","timestamp":1636675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005010","name":"associazione italiana per la ricerca sul cancro","doi-asserted-by":"publisher","award":["#21267"],"award-info":[{"award-number":["#21267"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015694","name":"fondazione cassa di risparmio di firenze","doi-asserted-by":"crossref","award":["#46400"],"award-info":[{"award-number":["#46400"]}],"id":[{"id":"10.13039\/501100015694","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biomark Res"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<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>PDGFR\u03b1<\/jats:italic>, <jats:italic>PDGFR\u03b2<\/jats:italic>, <jats:italic>FGFR1<\/jats:italic> or <jats:italic>JAK2<\/jats:italic> represent the biomarkers of WHO-defined \u201cmyeloid and lymphoid neoplasms with eosinophilia\u201d. 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\u00a0h, starting from DNA purified from whole blood.<\/jats:p>","DOI":"10.1186\/s40364-021-00337-1","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T12:02:55Z","timestamp":1636718575000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFR\u03b1, PDGFR\u03b2, FGFR1 or PCM1-JAK2"],"prefix":"10.1186","volume":"9","author":[{"given":"Simone","family":"Romagnoli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niccol\u00f2","family":"Bartalucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Gesullo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjola","family":"Balliu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Bonifacio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anair Graciela Lema","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Mannelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Bolognini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Pelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Guglielmelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro Maria","family":"Vannucchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,12]]},"reference":[{"issue":"10","key":"337_CR1","doi-asserted-by":"publisher","first-page":"1149","DOI":"10.1002\/ajh.25617","volume":"94","author":"W Shomali","year":"2019","unstructured":"Shomali W, Gotlib J. World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management. Am J Hematol. 2019;94(10):1149\u201367.","journal-title":"Am J Hematol"},{"issue":"6","key":"337_CR2","first-page":"704","volume":"129","author":"A Reiter","year":"2017","unstructured":"Reiter A, Gotlib J. Myeloid neoplasms with eosinophilia. Blood. The Journal of the American Society of Hematology. 2017;129(6):704\u201314.","journal-title":"The Journal of the American Society of Hematology"},{"issue":"2","key":"337_CR3","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1080\/10428194.2016.1197396","volume":"58","author":"M Maccaferri","year":"2017","unstructured":"Maccaferri M, Pierini V, Di Giacomo D, Zucchini P, Forghieri F, Bonacorsi G, et al. The importance of cytogenetic and molecular analyses in eosinophilia-associated myeloproliferative neoplasms: an unusual case with normal karyotype and TNIP1-PDGFRB rearrangement and overview of PDGFRB partner genes. Leukemia lymphoma. 2017;58(2):489\u201393.","journal-title":"Leukemia lymphoma"},{"issue":"8","key":"337_CR4","doi-asserted-by":"publisher","first-page":"e348","DOI":"10.3324\/haematol.2017.187302","volume":"103","author":"C Baer","year":"2018","unstructured":"Baer C, Muehlbacher V, Kern W, Haferlach C, Haferlach T. Molecular genetic characterization of myeloid\/lymphoid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1 or PCM1-JAK2. Haematologica. 2018;103(8):e348.","journal-title":"Haematologica"},{"issue":"1","key":"337_CR5","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.gpb.2015.01.009","volume":"13","author":"Y Feng","year":"2015","unstructured":"Feng Y, Zhang Y, Ying C, Wang D, Du C. Nanopore-based fourth-generation DNA sequencing technology. Genomics Proteomics Bioinformatics. 2015;13(1):4\u201316.","journal-title":"Genomics Proteomics Bioinformatics"},{"issue":"12","key":"337_CR6","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1373\/clinchem.2019.310805","volume":"65","author":"N Bartalucci","year":"2019","unstructured":"Bartalucci N, Romagnoli S, Contini E, Marseglia G, Magi A, Guglielmelli P, et al. Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing. Clin Chem. 2019;65(12):1605\u20138.","journal-title":"Clin Chem"},{"key":"337_CR7","doi-asserted-by":"crossref","unstructured":"Magi A, Bolognini D, Bartalucci N, Mingrino A, Semeraro R, Giovannini L, et al. Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data. Bioinformatics. 2019.","DOI":"10.1093\/bioinformatics\/btz241"},{"issue":"6","key":"337_CR8","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/s41592-018-0001-7","volume":"15","author":"FJ Sedlazeck","year":"2018","unstructured":"Sedlazeck FJ, Rescheneder P, Smolka M, Fang H, Nattestad M, von Haeseler A, et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018;15(6):461\u20138.","journal-title":"Nat Methods"},{"issue":"13","key":"337_CR9","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1056\/NEJMoa025217","volume":"348","author":"J Cools","year":"2003","unstructured":"Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003;348(13):1201\u201314.","journal-title":"N Engl J Med"},{"issue":"20","key":"337_CR10","doi-asserted-by":"publisher","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","volume":"34","author":"V Geoffroy","year":"2018","unstructured":"Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinformatics. 2018;34(20):3572\u20134.","journal-title":"Bioinformatics"}],"container-title":["Biomarker Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40364-021-00337-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40364-021-00337-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40364-021-00337-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T12:19:36Z","timestamp":1636719576000},"score":1,"resource":{"primary":{"URL":"https:\/\/biomarkerres.biomedcentral.com\/articles\/10.1186\/s40364-021-00337-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,12]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["337"],"URL":"https:\/\/doi.org\/10.1186\/s40364-021-00337-1","relation":{},"ISSN":["2050-7771"],"issn-type":[{"value":"2050-7771","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,12]]},"assertion":[{"value":"19 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was performed in compliance with the local ethics committee approval (#14,560) obtained for the AIRC-MYNERVA Project (#21,267).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval\u00a0and consent to participate"}},{"value":"All the listed authors read the manuscript and approved the submitted data for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AMV : member of advisory board of GSK, Incyte, Novartis, Blueprint ; speaker for Novartis, Incyte, Abbvie, BMS. PG : member of advisory board of Novartis, Abbvie. FM : member of advisory board of Novartis. CM : member of advisory board of Celgene ; member of editorial board of Dynamicon. There is no conflict of interest related to the current work to disclose for any of the other authors.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"83"}}