Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes.
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.
Etienne
Anne
A
UMR599 INSERM, Institut Paoli-Calmettes, Laboratoire d'Oncologie Moléculaire, Centre de Recherche en Cancérologie de Marseille, 232 Bd. de Sainte-Marguerite, 13009 Marseille, France.
Carbuccia
Nadine
N
Adélaïde
José
J
Bekhouche
Ismahane
I
Rémy
Virginie
V
Sohn
Claudine
C
Sainty
Danielle
D
Gastaut
Jean-Albert
JA
Olschwang
Sylviane
S
Birnbaum
Daniel
D
Mozziconacci
Marie-Joëlle
MJ
Chaffanet
Max
M
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
D025743:HMGA2 Protein; C106643:SOCS2 protein, human; D050826:Suppressor of Cytokine Signaling Proteins