Clinical and laboratory study of myleodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) with PDGFRβ abnormalities / 中华血液学杂志
Chinese Journal of Hematology
; (12): 540-544, 2010.
Article
em Zh
| WPRIM
| ID: wpr-353594
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WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical and laboratory characteristics of myleodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) with PDGFRβ abnormalities.</p><p><b>METHODS</b>Chromosome specimens were prepared directly and/or short-time culture of bone marrow cells. Karyotyping was performed with R-binding technique. Fluorescence in situ hybridization (FISH) was performed using PDGFRβ, PDGFRα, FGFR1 break-apart probes and whole chromosome 5 and 12 painting probes, respectively. The expression of JAK2 V617F was measured with quantitative PCR.</p><p><b>RESULTS</b>The clinical and hematological findings of 27 patients were compatible with diagnosis of MDS/MPN. PDGFRβ rearrangement was detected in 4 patients with D-FISH, and 2 of which were confirmed as t(5;12) by chromosome painting. PDGFRα, FGFR1 and JAK2 V617F mutation were not detected in these 4 PDGFRβ positive MDS/MPN patients with.</p><p><b>CONCLUSIONS</b>PDGFRβ gene rearrangement may be detected in some MDS/MPN patients. FISH is a convenient and reliable approach to detect PDGFRβ gene.</p>
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1
Índice:
WPRIM
Assunto principal:
Hibridização in Situ Fluorescente
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Receptor beta de Fator de Crescimento Derivado de Plaquetas
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Genética
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Cariotipagem
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Transtornos Mieloproliferativos
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Neoplasias
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Ano de publicação:
2010
Tipo de documento:
Article