Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).
Br J Haematol
; 136(2): 294-6, 2007 Jan.
Article
en En
| MEDLINE
| ID: mdl-17233820
ABSTRACT
Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL) NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1(SETBP1) fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested polymerase chain reaction did not amplify the reciprocal SETBP1/NUP98, suggesting that NUP98/SETBP1 transcript is pathogenetically important. SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia.
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Bases de datos:
MEDLINE
Asunto principal:
Translocación Genética
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Cromosomas Humanos Par 11
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Cromosomas Humanos Par 18
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Proteínas Nucleares
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Leucemia-Linfoma de Células T del Adulto
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Proteínas Portadoras
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Proteínas de Fusión Oncogénica
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Proteínas de Complejo Poro Nuclear
Límite:
Child
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Humans
Idioma:
En
Revista:
Br J Haematol
Año:
2007
Tipo del documento:
Article
País de afiliación:
Suecia