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Chimeric NUP98-NSD1 transcripts from the cryptic t(5;11)(q35.2;p15.4) in adult de novo acute myeloid leukemia.
Kivioja, Jarno L; Lopez Martí, Jesus M; Kumar, Ashwini; Kontro, Mika; Edgren, Henrik; Parsons, Alun; Lundán, Tuija; Wolf, Maija; Porkka, Kimmo; Heckman, Caroline A.
Afiliación
  • Kivioja JL; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
  • Lopez Martí JM; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
  • Kumar A; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
  • Kontro M; b Department of Hematology , Hematology Research Unit Helsinki, University of Helsinki, and Helsinki University Hospital Comprehensive Cancer Center , Helsinki , Finland.
  • Edgren H; c MediSapiens Ltd. , Helsinki , Finland.
  • Parsons A; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
  • Lundán T; d Department of Clinical Chemistry and TYKSLAB , Turku University Central Hospital, University of Turku , Turku , Finland.
  • Wolf M; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
  • Porkka K; b Department of Hematology , Hematology Research Unit Helsinki, University of Helsinki, and Helsinki University Hospital Comprehensive Cancer Center , Helsinki , Finland.
  • Heckman CA; a Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science , University of Helsinki , Helsinki , Finland.
Leuk Lymphoma ; 59(3): 725-732, 2018 03.
Article en En | MEDLINE | ID: mdl-28776436
The t(5;11)(q35;p15.4) is a clinically significant marker of poor prognosis in acute myeloid leukemia (AML), which is difficult to detect due to sub-telomeric localization of the breakpoints. To facilitate the detection of this rearrangement, we studied NUP98-NSD1 transcript variants in patients with the t(5;11) using paired-end RNA sequencing and standard molecular biology techniques. We discovered three NUP98-NSD1 transcripts with two fusion junctions (NUP98 exon 11-12/NSD1 exon 6), alternative 5' donor site in NUP98 exon 7, and NSD1 exon 7 skipping. Two of the transcripts were in-frame and occurred in all t(5;11) samples (N = 5). The exonic splicing events were present in all samples (N = 23) regardless of the NUP98-NSD1 suggesting that these novel splice events are unassociated with t(5;11). In conclusion, we provide evidence of two different NUP98-NSD1 fusion transcripts in adult AML, which result in functional proteins and represent suitable molecular entities for monitoring t(5;11) AML patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Cromosomas Humanos Par 5 / Cromosomas Humanos Par 11 / Leucemia Mieloide Aguda / Biomarcadores de Tumor / Proteínas de Fusión Oncogénica / Empalme Alternativo Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Leuk Lymphoma Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Cromosomas Humanos Par 5 / Cromosomas Humanos Par 11 / Leucemia Mieloide Aguda / Biomarcadores de Tumor / Proteínas de Fusión Oncogénica / Empalme Alternativo Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Leuk Lymphoma Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos