PMID- 12542482
OWN - NLM
STAT- MEDLINE
DCOM- 20030321
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 120
IP  - 2
DP  - 2003 Jan
TI  - Novel translocations that disrupt the platelet-derived growth factor receptor 
      beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.
PG  - 251-6
AB  - The BCR-ABL-negative chronic myeloproliferative disorders (CMPD) and 
      myelodysplastic/myeloproliferative diseases (MDS/MPD) are a spectrum of related 
      conditions for which the molecular pathogenesis is poorly understood. 
      Translocations that disrupt and constitutively activate the platelet-derived 
      growth factor receptor beta(PDGFRB) gene at chromosome band 5q33 have been 
      described in some patients, the most common being the t(5;12)(q33;p13). An 
      accurate molecular diagnosis of PDGFRB-rearranged patients has become 
      increasingly important since recent data have indicated that they respond very 
      well to imatinib mesylate therapy. In this study, we have tested nine patients 
      with a CMPD or MDS/MPD and a translocation involving 5q31-33 for disruption of 
      PDGFRB by two-colour fluorescence in situ hybridization (FISH) using 
      differentially labelled, closely flanking probes. Normal control interphase cells 
      gave a false positive rate of 3% (signals more than one signal width apart). Six 
      patients showed a pattern of one fused signal (from the normal allele) and one 
      pair of signals separated by more than one signal width in > 85% of interphase 
      cells, indicating that PDGFRB was disrupted. These individuals had a 
      t(1;5)(q21;q33), t(1;5)(q22;q31), t(1;3;5)(p36;p21;q33), t(2;12;5)(q37;q22;q33), 
      t(3;5) (p21;q31) and t(5;14)(q33;q24) respectively. The remaining three patients 
      with a t(1;5)(q21;q31), t(2;5)(p21;q33) and t(5;6)(q33;q24-25) showed a normal 
      pattern of hybridization, with > or = 97% interphase cells with two fusion 
      signals. We conclude that two-colour FISH is useful to determine the presence of 
      a PDGFRB rearrangement, although, as we have shown previously, this technique may 
      not detect subtle complex translocations at this locus. Our data indicate that 
      several PDGFRB partner genes remain to be characterized.
FAU - Baxter, E Joanna
AU  - Baxter EJ
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
FAU - Kulkarni, Shashikant
AU  - Kulkarni S
FAU - Vizmanos, Jose-Luis
AU  - Vizmanos JL
FAU - Jaju, Rina
AU  - Jaju R
FAU - Martinelli, Giovanni
AU  - Martinelli G
FAU - Testoni, Nicoletta
AU  - Testoni N
FAU - Hughes, George
AU  - Hughes G
FAU - Salamanchuk, Zoryana
AU  - Salamanchuk Z
FAU - Calasanz, Maria Jose
AU  - Calasanz MJ
FAU - Lahortiga, Idoya
AU  - Lahortiga I
FAU - Pocock, Christopher F
AU  - Pocock CF
FAU - Dang, Raymond
AU  - Dang R
FAU - Fidler, Carrie
AU  - Fidler C
FAU - Wainscoat, James S
AU  - Wainscoat JS
FAU - Boultwood, Jacqueline
AU  - Boultwood J
FAU - Cross, Nicholas C P
AU  - Cross NC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor beta)
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 5
MH  - Chromosomes, Human, Pair 9
MH  - Eosinophilia/genetics
MH  - Female
MH  - Fusion Proteins, bcr-abl
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Myeloproliferative Disorders/*genetics
MH  - Polymerase Chain Reaction/methods
MH  - Receptor, Platelet-Derived Growth Factor beta/*genetics
MH  - Sensitivity and Specificity
MH  - *Translocation, Genetic
EDAT- 2003/01/25 04:00
MHDA- 2003/03/22 04:00
CRDT- 2003/01/25 04:00
PHST- 2003/01/25 04:00 [pubmed]
PHST- 2003/03/22 04:00 [medline]
PHST- 2003/01/25 04:00 [entrez]
AID - 4051 [pii]
AID - 10.1046/j.1365-2141.2003.04051.x [doi]
PST - ppublish
SO  - Br J Haematol. 2003 Jan;120(2):251-6. doi: 10.1046/j.1365-2141.2003.04051.x.