Large deletion of part of the HMGIC locus accompanying a t(3;12)(q27 similar to q28;q14 similar to q15) in a lipoma

The high mobility group protein gene HMGIC has been found to be rearranged in a variety of human benign solid tumors. Often, these rearrangements lead to fusion genes of which that between HMGIC and LPP underlying t(3;12)(q27 similar to q28;q14 similar to q15) is by far the most common. Herein, we a nalysed a lipoma with a t(3;12)(q27 similar to q28,q14 similar to q15). RT- PCR revealed the presence of a HMGIC-LPP fusion transcript composed of exon s 1-3 of HMGIC and exons 9-11 of LPP, but the absence of the reverse LPP-HM GIC fusion transcript. Fluorescence in situ hybridization experiments using different probes derived from the HMGIC gene and its 3' vicinity showed th e absence of FISH signals on the derivative chromosome 3. Thus. in the pres ent tumor the t(3;2)(q27 similar to q28;q14 similar to q15) was accompanied by a large genomic deletion. Roughly, it can be estimated that at least 17 0 kb of chromosome 12 material were deleted. To the best of our knowledge, this is the first report showing that the "simple" t(3;12)(q27 similar to q 28;q14 similar to q15) results in a large deletion of DNA. (C) 2001 Elsevie r Science Inc. All rights reserved.