High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies.
Br J Haematol
; 155(5): 609-12, 2011 Dec.
Article
en En
| MEDLINE
| ID: mdl-21910720
ABSTRACT
The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). We have developed and validated a rapid and sensitive high-resolution melting analysis (HRMA) assay that detects BRAF exon 15 mutations when hairy cells are as low as 5-10% in a sample. All 48 HCL patients were positive for the BRAF V600E mutation, while 114 non-HCL cases were all V600E negative. Interestingly, we detected a novel BRAF D594N mutation in one patient with multiple myeloma. The HRMA assay offers a useful tool to aid the laboratory diagnosis of HCL.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Leucemia de Células Pilosas
/
Exones
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Análisis de Secuencia de ADN
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Proteínas Proto-Oncogénicas B-raf
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Trastornos Linfoproliferativos
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Br J Haematol
Año:
2011
Tipo del documento:
Article
País de afiliación:
Reino Unido