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Jul 2007 Cancer genetics and cytogenetics

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

Authors

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

Summary

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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