PMID- 15085153
OWN - NLM
STAT- MEDLINE
DCOM- 20040623
LR  - 20130304
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 18
IP  - 6
DP  - 2004 Jun
TI  - Inositide-specific phospholipase c beta1 gene deletion in the progression of 
      myelodysplastic syndrome to acute myeloid leukemia.
PG  - 1122-6
AB  - Myelodysplastic syndrome (MDS) is an adult hematological disease that evolves 
      into acute myeloid leukemia (AML) in about 30% of the cases. The availability of 
      a highly specific probe moved us to perform in patients affected with MDS/AML, 
      associated with normal karyotype, painting and fluorescence in situ hybridization 
      (FISH) analysis aimed to check the inositide-specific phospholipase C (PI-PLC) 
      beta1 gene, a player in the control of some checkpoints of the cell cycle. Here 
      we present a preliminary observation in which FISH analysis disclosed in a small 
      group of MDS/AML patients with normal karyotype the monoallelic deletion of the 
      PI-PLCbeta1 gene. On the contrary, PI-PLC beta4, another gene coding for a 
      signaling molecule, located on 20p12.3 at a distance as far as less than 1Mb from 
      PI-PLCbeta1, is unaffected in MDS patients with the deletion of PI-PLC beta1 
      gene, hinting at an interstitial deletion. The MDS patients, bearing the 
      deletion, rapidly evolved to AML. The data suggest the possible involvement of 
      PI-PLCbeta1 in the progression of the disease and pave the way for a larger 
      investigation aimed at identifying a possible high-risk group among MDS patients 
      with a normal karyotype.
FAU - Lo Vasco, V R
AU  - Lo Vasco VR
AD  - Cellular Signalling Laboratory, Department of Anatomical Sciences, University of 
      Bologna, Bologna, Italy.
FAU - Calabrese, G
AU  - Calabrese G
FAU - Manzoli, L
AU  - Manzoli L
FAU - Palka, G
AU  - Palka G
FAU - Spadano, A
AU  - Spadano A
FAU - Morizio, E
AU  - Morizio E
FAU - Guanciali-Franchi, P
AU  - Guanciali-Franchi P
FAU - Fantasia, D
AU  - Fantasia D
FAU - Cocco, L
AU  - Cocco L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
RN  - 0 (Isoenzymes)
RN  - 0 (Phosphatidylinositols)
RN  - EC 3.1.4.- (Type C Phospholipases)
RN  - EC 3.1.4.11 (PLCB1 protein, human)
RN  - EC 3.1.4.11 (PLCB4 protein, human)
RN  - EC 3.1.4.11 (Phospholipase C beta)
SB  - IM
CIN - Leukemia. 2006 Mar;20(3):521-2; author reply 522-3. PMID: 16424863
MH  - Acute Disease
MH  - Aged
MH  - Aged, 80 and over
MH  - Disease Progression
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - Isoenzymes/*genetics/metabolism
MH  - Leukemia, Myeloid/epidemiology/*genetics/*pathology
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/epidemiology/*genetics/*pathology
MH  - Phosphatidylinositols/metabolism
MH  - Phospholipase C beta
MH  - Risk Factors
MH  - Type C Phospholipases/*genetics/metabolism
EDAT- 2004/04/16 05:00
MHDA- 2004/06/24 05:00
CRDT- 2004/04/16 05:00
PHST- 2004/04/16 05:00 [pubmed]
PHST- 2004/06/24 05:00 [medline]
PHST- 2004/04/16 05:00 [entrez]
AID - 2403368 [pii]
AID - 10.1038/sj.leu.2403368 [doi]
PST - ppublish
SO  - Leukemia. 2004 Jun;18(6):1122-6. doi: 10.1038/sj.leu.2403368.