Jul 2007 Cancer genetics and cytogenetics

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


Etienne A, Carbuccia N, Adélaïde J, Bekhouche I, Rémy V, Sohn C, Sainty D, Gastaut JA, Olschwang S, Birnbaum D, Mozziconacci MJ, Chaffanet M


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.

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