[Clinical and laboratory study of myleodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) with PDGFRβ abnormalities].
OBJECTIVE
To explore the clinical and laboratory characteristics of myleodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) with PDGFRβ abnormalities.


METHODS
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.


RESULTS
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.


CONCLUSIONS
PDGFRβ gene rearrangement may be detected in some MDS/MPN patients. FISH is a convenient and reliable approach to detect PDGFRβ gene.
Department of Hematology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China.
Sheng-Lan
SL
Gong
Hui-Ying
HY
Qiu
Xian-Min
XM
Song
Ru
R
Shao
Jian-Min
JM
Wang
D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009196:Myeloproliferative Disorders / Q000235:genetics; D009369:Neoplasms; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics
D020797:Receptor, Platelet-Derived Growth Factor beta