{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:32:57Z","timestamp":1793413977304,"version":"4.5.0"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T00:00:00Z","timestamp":1743292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/00213"],"award-info":[{"award-number":["PI21\/00213"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    B\u2010cell precursor acute lymphoblastic leukaemia (BCP\u2010ALL) comprises multiple subtypes characterized by different genetic alterations. With the use of current standard\u2010of\u2010care tests used in clinical practice, 20%\u201330% of the cases may not be classified into the main genetic subtypes and additional approaches are needed. These patients are grouped in the heterogeneous category B\u2010other ALL. Transcriptome sequencing (RNA\u2010seq) has allowed the identification of novel fusion genes and gene expression profiles that define new molecular subtypes. We present RNA\u2010seq results integrated, in a real\u2010world scenario, with clinical routine diagnostic data to identify new biomarkers and reclassify a cohort of 60 B\u2010other ALL patients in the newly described genetic subtypes. Overall, 49 rearrangements were identified, including 32 different fusion genes in 41 B\u2010other patients (68%). Moreover, we reported six novel rearrangements (\n                    <jats:italic>IGK::PAX5<\/jats:italic>\n                    ,\n                    <jats:italic>PAX5::IL1RAPL1<\/jats:italic>\n                    ,\n                    <jats:italic>ETV6::KRT78<\/jats:italic>\n                    ,\n                    <jats:italic>IGH::HIC1<\/jats:italic>\n                    ,\n                    <jats:italic>IGH::MIR100HG<\/jats:italic>\n                    and\n                    <jats:italic>NKAIN4::PNPLA7<\/jats:italic>\n                    ). The integration of RNA\u2010seq results with standard\u2010of\u2010care data allowed us to classify 72% of the patients (43\/60) in 11 different subtypes, being\n                    <jats:italic>DUX4<\/jats:italic>\n                    rearranged and\n                    <jats:italic>PAX5<\/jats:italic>\n                    alt the most represented subtypes. In summary, RNA\u2010seq is a reliable tool for the identification of new emerging genetic subtypes contributing to a better genetic risk stratification of BCP\u2010ALL paediatric patients on the path towards a more personalized medicine.\n                  <\/jats:p>","DOI":"10.1111\/bjh.20056","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T19:35:52Z","timestamp":1743449752000},"page":"1355-1365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["RNA\u2010sequencing: A reliable tool to unveil transcriptional landscape of paediatric B\u2010other acute lymphoblastic leukaemia"],"prefix":"10.1111","volume":"206","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2556-043X","authenticated-orcid":false,"given":"Clara","family":"Vicente\u2010Garc\u00e9s","sequence":"first","affiliation":[{"name":"Developmental Tumors Biology Group, Leukaemia and Paediatric Haematology Disorders, Pediatric Cancer Center Barcelona (PCCB) Institut de Recerca Hospital Sant Joan de D\u00e9u (IRSJD)  Esplugues de Llobregat Barcelona Spain"},{"name":"Facultat de Medicina i Ci\u00e8ncies de la Salut Universitat de Barcelona (UB)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guerau","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine\u2010IPER, Hospital Sant Joan de D\u00e9u Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5451-0370","authenticated-orcid":false,"given":"Elena","family":"Esperanza\u2010Cebollada","sequence":"additional","affiliation":[{"name":"Developmental Tumors Biology Group, Leukaemia and Paediatric Haematology Disorders, Pediatric Cancer Center Barcelona (PCCB) Institut de Recerca Hospital Sant Joan de D\u00e9u (IRSJD)  Esplugues de Llobregat Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6033-9880","authenticated-orcid":false,"given":"Merc\u00e8","family":"Richarte\u2010Franqu\u00e9s","sequence":"additional","affiliation":[{"name":"Developmental Tumors Biology Group, Leukaemia and Paediatric Haematology Disorders, Pediatric Cancer Center Barcelona (PCCB) Institut de Recerca Hospital Sant Joan de D\u00e9u (IRSJD)  Esplugues de Llobregat Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Crespo\u2010Carrasco","sequence":"additional","affiliation":[{"name":"Developmental Tumors Biology Group, Leukaemia and Paediatric Haematology Disorders, Pediatric Cancer Center Barcelona (PCCB) Institut de Recerca Hospital Sant Joan de D\u00e9u (IRSJD)  Esplugues de Llobregat Barcelona 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Pediatric Cancer Center Barcelona (PCCB) Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luis","family":"Dapena","sequence":"additional","affiliation":[{"name":"Developmental Tumors Biology Group, Leukaemia and Paediatric Haematology Disorders, Pediatric Cancer Center Barcelona (PCCB) Institut de Recerca Hospital Sant Joan de D\u00e9u (IRSJD)  Esplugues de Llobregat Barcelona Spain"},{"name":"Leukemia and Lymphoma Department. 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