{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T17:28:13Z","timestamp":1788197293174,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,29]],"date-time":"2012-11-29T00:00:00Z","timestamp":1354147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2013,1]]},"abstract":"Abstract<\/jats:title>Background<\/jats:italic>: In T<\/jats:styled-content>\u2010cell acute lymphoblastic leukemia\/lymphoma (T\u2010ALL<\/jats:styled-content>\/LBL<\/jats:styled-content>), activating mutations of NOTCH<\/jats:styled-content>1<\/jats:italic> are observed in more than 50% of cases, whereas the t(7;9)(q34;q34) involving NOTCH<\/jats:styled-content>1<\/jats:italic> at 9q34 and TRB<\/jats:styled-content>@<\/jats:italic> at 7q34 is an extremely rare but recurrent translocation. Patient<\/jats:italic>: A 41\u2010year\u2010old male with a large mediastinal mass, pleural effusion, and lymphadenopathy was diagnosed as having T\u2010LBL<\/jats:styled-content>. Lymphoma cells were positive for CD<\/jats:styled-content>4, CD<\/jats:styled-content>8, CD<\/jats:styled-content>2, CD<\/jats:styled-content>3, CD<\/jats:styled-content>5, CD<\/jats:styled-content>7, CD<\/jats:styled-content>10, and T<\/jats:styled-content>dT<\/jats:styled-content>. Results<\/jats:italic>: G<\/jats:styled-content>\u2010banding and spectral karyotyping of pleural effusion cells showed 47,XY,dup(1)(q21q32),t(7;9)(q34;q34),+20. Genomic polymerase chain reaction (PCR<\/jats:styled-content>) revealed that the 5\u2032 end of TRB<\/jats:styled-content>@ <\/jats:italic>J<\/jats:styled-content>1\u20105 was connected with the middle of NOTCH<\/jats:styled-content>1<\/jats:italic> exon 25 (434\u00a0bp downstream from its 5\u2032 end) in a \u2018head\u2010to\u2010head\u2019 configuration on the der(9)t(7;9), although nine extra bases were inserted between the two genes. Reverse transcription\u2010PCR<\/jats:styled-content> confirmed expression of the TRB<\/jats:styled-content>@\/NOTCH<\/jats:styled-content>1<\/jats:italic> fusion transcripts. Similarly, the 5\u2032 end of J1\u20105 was fused to the shortened exon 25 with nine extra bases. The NOTCH<\/jats:styled-content>1<\/jats:italic> breakpoint in exon 25 was very close to transcription start sites of deleted Notch1<\/jats:italic> in murine T<\/jats:styled-content>\u2010ALL<\/jats:styled-content>. Conclusions<\/jats:italic>: The TRB<\/jats:styled-content>@\/NOTCH<\/jats:styled-content>1<\/jats:italic> fusion gene with a NOTCH<\/jats:styled-content>1<\/jats:italic> breakpoint in exon 25, which has not previously been detected in four other reported cases with t(7;9), could lead to aberrant expression of the truncated NOTCH<\/jats:styled-content>1<\/jats:italic> by TRB<\/jats:styled-content>@<\/jats:italic> enhancer elements. The resultant NOTCH<\/jats:styled-content>1 receptor deleting most of the extracellular domain may be implicated in the pathogenesis of T<\/jats:styled-content>\u2010LBL<\/jats:styled-content> by ligand\u2010independent, constitutive activation of the NOTCH<\/jats:styled-content>1 pathway, suggesting avenues for future therapy with \u03b3\u2010secretase inhibitors.<\/jats:p>","DOI":"10.1111\/ejh.12019","type":"journal-article","created":{"date-parts":[[2012,10,3]],"date-time":"2012-10-03T14:03:11Z","timestamp":1349272991000},"page":"68-75","source":"Crossref","is-referenced-by-count":13,"title":["A novel TRB<\/scp>@\/NOTCH<\/scp>1<\/i> fusion gene in T<\/scp>\u2010cell lymphoblastic lymphoma with t(7;9)(q34;q34)"],"prefix":"10.1111","volume":"90","author":[{"given":"Katsuya","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Nakamachi","sequence":"additional","affiliation":[{"name":"Division of Clinical Laboratory Kobe University Hospital Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimikazu","family":"Yakushijin","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiharu","family":"Miyata","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Okamura","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Kawano","sequence":"additional","affiliation":[{"name":"Division of Clinical Laboratory Kobe University Hospital Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Matsuoka","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironobu","family":"Minami","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology\/Hematology, Department of Medicine Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1880"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2010.09.004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2789"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V71.2.395.395"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90111-B"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404258"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2403657"},{"key":"e_1_2_6_9_1","unstructured":"MitelmanF JohanssonB MertensF eds.Mitelman database of chromosome aberrations and gene fusions in cancer.2012. 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