{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:20:33Z","timestamp":1792700433469,"version":"4.5.0"},"reference-count":24,"publisher":"American Society of Hematology","issue":"13","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,9,26]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>T-cell lymphoblastic lymphoma (T-LBL) and T-cell acute lymphoblastic leukemia (T-ALL) have common and distinguishing clinical and molecular features. Molecular prognostic factors are needed for T-LBL. We assessed the prevalence and prognostic impact of the T-cell receptor \u03b2 (TRB)::NOTCH1 fusion in 192 pediatric patients with T-LBL and 167 pediatric patients with T-ALL, using novel multiplex polymerase chain reaction and genomic capture high-throughput sequencing techniques. The fusion was detected in 12 patients with T-LBL (6.3%) but in none of the patients with T-ALL (P\u00a0= .0006, Fisher exact test). In T-LBL, the TRB::NOTCH1 fusion was associated with a significantly higher incidence of relapse (67% vs 17% in gene fusion-negative patients, P\u00a0&amp;lt; .001, Fisher exact test). The breakpoint in TRB was most frequently located in J2-7 (n\u00a0= 6). In NOTCH1, the breakpoints varied between exon 24 and 27. Consequently, a truncated NOTCH1 with its dimerization, regulation, and signal transduction domains gets controlled by strong TRB enhancer elements. This study reveals a novel recurrent genetic variant with significant prognostic relevance in T-LBL, which was absent in T-ALL. The TRB::NOTCH1 fusion in T-LBL suggests a possible unique pathogenic mechanism divergent from T-ALL. Further studies will validate the role of the TRB::NOTCH1 fusion as prognostic marker in T-LBL and elucidate its pathogenic mechanisms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2024025307","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T15:06:33Z","timestamp":1721315193000},"page":"1412-1417","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":10,"title":["Pediatric T-cell lymphoblastic lymphomas but not leukemias harbor\n                    <i>TRB<\/i>\n                    ::\n                    <i>NOTCH1<\/i>\n                    fusions with unfavorable outcome"],"prefix":"10.1182","volume":"144","author":[{"given":"Marcel","family":"te Vrugt","sequence":"first","affiliation":[{"name":"1Department of Pediatric Hematology and Oncology and Non-Hodgkin Lymphoma Berlin-Frankfurt-Muenster Study Center, University Hospital Muenster, Muenster, 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Damm-Welk","sequence":"additional","affiliation":[{"name":"2Pediatric Hematology and Oncology and Non-Hodgkin Lymphoma Berlin-Frankfurt-Muenster Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jette","family":"Luedersen","sequence":"additional","affiliation":[{"name":"2Pediatric Hematology and Oncology and Non-Hodgkin Lymphoma Berlin-Frankfurt-Muenster Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Escherich","sequence":"additional","affiliation":[{"name":"3Pediatric Hematology and Oncology and Cooperative Study Group for Childhood Acute Lymphoblastic Leukaemia Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udo","family":"zur Stadt","sequence":"additional","affiliation":[{"name":"3Pediatric Hematology and Oncology and Cooperative Study Group for Childhood Acute Lymphoblastic Leukaemia Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3255-7504","authenticated-orcid":false,"given":"Lena","family":"Behrmann","sequence":"additional","affiliation":[{"name":"3Pediatric Hematology and Oncology and Cooperative Study Group for Childhood Acute Lymphoblastic Leukaemia Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelm","family":"Woessmann","sequence":"additional","affiliation":[{"name":"2Pediatric Hematology and Oncology and Non-Hodgkin Lymphoma Berlin-Frankfurt-Muenster Study Center, University Medical Center 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