title: Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia.
abstract: 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.
authors.affiliation: Cellular Signalling Laboratory, Department of Anatomical Sciences, University of Bologna, Bologna, Italy.
authors.forename: V R
authors.initials: VR
authors.lastname: Lo Vasco
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: L
authors.initials: L
authors.lastname: Manzoli
authors.forename: G
authors.initials: G
authors.lastname: Palka
authors.forename: A
authors.initials: A
authors.lastname: Spadano
authors.forename: E
authors.initials: E
authors.lastname: Morizio
authors.forename: P
authors.initials: P
authors.lastname: Guanciali-Franchi
authors.forename: D
authors.initials: D
authors.lastname: Fantasia
authors.forename: L
authors.initials: L
authors.lastname: Cocco
mesh_terms: D000208:Acute Disease; D000368:Aged; D000369:Aged, 80 and over; D018450:Disease Progression; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007527:Isoenzymes / Q000235:genetics* / Q000378:metabolism; D007951:Leukemia, Myeloid / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D010716:Phosphatidylinositols / Q000378:metabolism; D054799:Phospholipase C beta; D012307:Risk Factors; D010738:Type C Phospholipases / Q000235:genetics* / Q000378:metabolism
chemical_list: D007527:Isoenzymes; D010716:Phosphatidylinositols; D010738:Type C Phospholipases; C518033:PLCB1 protein, human; C518042:PLCB4 protein, human; D054799:Phospholipase C beta