title: Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes.
abstract: We report two cases of translocation associated with deletion on derivative chromosomes in atypical myeloproliferative disorder (MPD). In a MPD with t(3;12)(q29;q14), the rearrangement targeted the HMGA2 locus at 12q14 and deleted a region of about 1.5 megabases (Mb) at 3q29. In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic hybridization delineated a deletion of about 3 Mb at 9q13 approximately q21 and a deletion of about 2 Mb at 12q22 containing SOCS2. These results show that close examination of translocations in hematopoietic diseases may reveal associated microdeletions. The role of these deletions is discussed.
authors.affiliation: UMR599 INSERM, Institut Paoli-Calmettes, Laboratoire d'Oncologie Moléculaire, Centre de Recherche en Cancérologie de Marseille, 232 Bd. de Sainte-Marguerite, 13009 Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Etienne
authors.forename: Nadine
authors.initials: N
authors.lastname: Carbuccia
authors.forename: José
authors.initials: J
authors.lastname: Adélaïde
authors.forename: Ismahane
authors.initials: I
authors.lastname: Bekhouche
authors.forename: Virginie
authors.initials: V
authors.lastname: Rémy
authors.forename: Claudine
authors.initials: C
authors.lastname: Sohn
authors.forename: Danielle
authors.initials: D
authors.lastname: Sainty
authors.forename: Jean-Albert
authors.initials: JA
authors.lastname: Gastaut
authors.forename: Sylviane
authors.initials: S
authors.lastname: Olschwang
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Marie-Joëlle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Max
authors.initials: M
authors.lastname: Chaffanet
mesh_terms: D000368:Aged; D002881:Chromosomes, Human, Pair 12; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D025743:HMGA2 Protein; C106643:SOCS2 protein, human; D050826:Suppressor of Cytokine Signaling Proteins