Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes

Anne Etienne (1, 2) , Nadine Carbuccia (1, 2) , José Adélaïde (1, 2) , Ismahane Bekhouche (1, 2) , Virginie Rémy (1, 2) , Claudine Sohn (3) , Danielle Sainty (2) , Jean-Albert Gastaut (2) , Sylviane Olschwang (1, 2) , Daniel Birnbaum (1, 2) , Marie-Joëlle Mozziconacci (1, 2) , Max Chaffanet (1, 2)

1 CRCM - Centre de Recherche en Cancérologie de Marseille
2 IPC - Institut Paoli-Calmettes
3 Hopital Font Pre

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.

Domaines: Cancer

Anne Etienne, Nadine Carbuccia, José Adélaïde, Ismahane Bekhouche, Virginie Rémy, et al.. Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes. Cancer Genetics and Cytogenetics, 2007, 176 (1), pp.80-88. ⟨10.1016/j.cancergencyto.2007.03.009⟩. ⟨hal-03634405⟩