[Complex molecular genetic algorithm in the diagnosis of myeloproliferative neoplasms]. / Komplex molekuláris genetikai vizsgálati algoritmus myeloproliferativ neoplasiák diagnosztikájában.
Orv Hetil
; 155(52): 2074-81, 2014 Dec 28.
Article
em Hu
| MEDLINE
| ID: mdl-25528320
ABSTRACT
INTRODUCTION:
Mutations in Janus kinase 2, calreticulin and thrombopoietin receptor genes have been identified in the genetic background of Philadelphia chromosome negative, "classic" myeloproliferative neoplasms.AIM:
The aim of the authors was to identify driver mutations in a large myeloproliferative cohort of 949 patients.METHOD:
A complex array of molecular techniques (qualitative and quantitative allele-specific polymerase chain reactions, fragment analyzes, high resolution melting and Sanger sequencing) was applied.RESULTS:
All 354 patients with polycythemia vera carried Janus kinase 2 mutations (V617F 98.6%, exon 12 1.4%). In essential thrombocythemia (n = 468), the frequency of V617F was 61.3% (n = 287), that of calreticulin 25.2% (n = 118), and that of thrombopoietin receptor mutations 2.1% (n = 10), while 11.3% (n = 53) were triple-negative. Similar distribution was observed in primary myelofibrosis (n = 127) 58.3% (n = 74) V617F, 23.6% (n = 30) calreticulin, 6.3% (n = 8) thrombopoietin receptor mutation positive and 11.8% (n = 15) triple-negative.CONCLUSIONS:
The recent discovery of calreticulin gene mutations led to definite molecular diagnostics in around 90% of clonal myeloproliferative cases.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Calreticulina
/
Janus Quinase 2
/
Receptores de Trombopoetina
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Mutação
/
Transtornos Mieloproliferativos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Qualitative_research
Limite:
Adult
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Aged
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Female
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Humans
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Male
/
Middle aged
Idioma:
Hu
Revista:
Orv Hetil
Ano de publicação:
2014
Tipo de documento:
Article