| |  Online-Ressource |
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| Verfasst von: | Walz, Christoph [VerfasserIn]  |
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| | Chase, A. [VerfasserIn] |
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| | Schoch, C. [VerfasserIn] |
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| | Weißer, Andreas [VerfasserIn] |
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| | Schlegel, F. [VerfasserIn] |
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| | Hochhaus, Andreas [VerfasserIn] |
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| | Fuchs, R. [VerfasserIn] |
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| | Schmitt-Gräff, A. [VerfasserIn] |
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| | Hehlmann, Rüdiger [VerfasserIn] |
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| | Cross, N. C. P. [VerfasserIn] |
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| | Reiter, Andreas [VerfasserIn] |
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| Titel: | The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1 |
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| Verf.angabe: | C. Walz, A. Chase, C. Schoch, A. Weisser, F. Schlegel, A. Hochhaus, R. Fuchs, A. Schmitt-Gräff, R. Hehlmann, N.C.P. Cross and A. Reiter |
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| E-Jahr: | 2005 |
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| Jahr: | 31 March 2005 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 11.05.2022 |
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| Titel Quelle: | Enthalten in: Leukemia |
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| Ort Quelle: | London : Springer Nature, 1997 |
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| Jahr Quelle: | 2005 |
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| Band/Heft Quelle: | 19(2005), 6, Seite 1005-1009 |
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| ISSN Quelle: | 1476-5551 |
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| Abstract: | The 8p11 myeloproliferative syndrome (EMS) also known as stem cell leukemia-lymphoma syndrome (SCLL) is associated with translocations that disrupt FGFR1. The resultant fusion proteins are constitutively active tyrosine kinases, and different FGFR1 fusions are associated with subtly different disease phenotypes. We report here a patient with a t(8;17)(p11;q23) and an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) characterized by thrombocytopenia due to markedly reduced size and numbers of megakaryocytes, with elevated numbers of monocytes, eosinophils and basophils. A novel mRNA fusion between exon 32 of the myosin XVIIIA gene (MYO18A) at chromosome band 17q11 and exon 9 of FGFR1 was identified. Partial characterization of the genomic breakpoints in combination of bubble-PCR with fluoresence in situ hybridization revealed that the t(8;17) arose from a three-way translocation with breaks at 8p11, 17q11 and 17q23. MYO18A-FGFR1 is structurally similar to other fusion tyrosine kinases and is likely to be the causative transforming lesion in this unusual MDS/MPD. |
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| DOI: | doi:10.1038/sj.leu.2403712 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1038/sj.leu.2403712 |
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| | Volltext: https://www.nature.com/articles/2403712 |
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| | DOI: https://doi.org/10.1038/sj.leu.2403712 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Cancer Research |
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| | general |
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| | Hematology |
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| | Intensive / Critical Care Medicine |
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| | Internal Medicine |
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| | Medicine/Public Health |
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| | Oncology |
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| K10plus-PPN: | 1801374600 |
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| Verknüpfungen: | → Zeitschrift |
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¬The¬ t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1 / Walz, Christoph [VerfasserIn]; 31 March 2005 (Online-Ressource)
