{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:38:21Z","timestamp":1789663101883,"version":"4.0.1"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Doctoral college ELAN (Essener Ausbildungsprogramm \u201cLabor und Wissenschaft\u201d f\u00fcr den aerztlichen Nachwuchs"},{"name":"Essener Elterninitiative zur Unterst\u00fctzung krebskranker Kinder e.V."},{"DOI":"10.13039\/501100005972","name":"Deutsche Krebshilfe","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005972","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Leukemia"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    New methods like panel-based RNA fusion sequencing (RNA-FS) promise improved diagnostics in various malignancies. We here analyzed the impact of RNA-FS on the initial diagnostics of 241 cases with pediatric acute myeloid leukemia (AML). We show that, compared to classical cytogenetics (CCG), RNA-FS reliably detected risk-relevant fusion genes in pediatric AML. In addition, RNA-FS strongly improved the detection of cryptic fusion genes like\n                    <jats:italic>NUP98::NSD1<\/jats:italic>\n                    ,\n                    <jats:italic>KMT2A::MLLT10<\/jats:italic>\n                    and\n                    <jats:italic>CBFA2T3::GLIS2<\/jats:italic>\n                    and thereby resulted in an improved risk stratification in 25 patients (10.4%). Validation of additionally detected non-risk-relevant high confidence fusion calls identified\n                    <jats:italic>PIM3::BRD1<\/jats:italic>\n                    ,\n                    <jats:italic>C22orf34::BRD1<\/jats:italic>\n                    ,\n                    <jats:italic>PSPC1::ZMYM2<\/jats:italic>\n                    and\n                    <jats:italic>ARHGAP26::NR3C1<\/jats:italic>\n                    as common genetic variants and\n                    <jats:italic>MYB::GATA1<\/jats:italic>\n                    as recurrent aberration, which we here describe in AML subtypes M0 and M7 for the first time. However, it failed to detect rare cytogenetically confirmed fusion events like\n                    <jats:italic>MNX1::ETV6<\/jats:italic>\n                    and other chromosome 12p-abnormalities. As add-on benefit, the proportion of patients for whom measurable residual disease (MRD) monitoring became possible was increased by RNA-FS from 44.4 to 75.5% as the information on the fusion transcripts\u2019 sequence allowed the design of new MRD assays.\n                  <\/jats:p>","DOI":"10.1038\/s41375-023-02102-9","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T03:03:12Z","timestamp":1702350192000},"page":"538-544","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Panel-based RNA fusion sequencing improves diagnostics of pediatric acute myeloid leukemia"],"prefix":"10.1038","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6359-4035","authenticated-orcid":false,"given":"Lina Marie","family":"Hoffmeister","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Suttorp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Antoniou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne Lisa","family":"Behrens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"G\u00f6hring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amani","family":"Awada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"von Neuhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7027-4483","authenticated-orcid":false,"given":"Dirk","family":"Reinhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6634-4306","authenticated-orcid":false,"given":"Markus","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,12]]},"reference":[{"key":"2102_CR1","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1038\/s41375-018-0071-7","volume":"32","author":"M Rasche","year":"2018","unstructured":"Rasche M, Zimmermann M, Borschel L, Bourquin J, Dworzak M, Klingebiel T, et al. 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