title: 11q13 alterations in two cases of hibernoma: large heterozygous deletions and rearrangement breakpoints near GARP in 11q13.5.
abstract: Hibernomas are rare, benign tumors with a histological appearance resembling that of brown adipose tissue. The diagnosis of hibernomas may be difficult because some of them contain only a small number of the characteristic multivacuolated fat cells and can be mistakenly classified as well-differentiated liposarcomas. Cytogenetic information has been reported for 10 cases, showing that these tumors are characterized by structural rearrangements involving 11q13. Previous fluorescence in situ hybridization (FISH) studies revealed consistent and sometimes cryptic losses of the MEN1 region in 11q13.1. Here, we describe the molecular cytogenetic analysis of two new hibernoma cases. Both tumors showed complex rearrangements, simultaneously including translocations, inversions, and deletions affecting the pair of chromosomes 11. The translocation partners were chromosome 5 in one case and chromosomes 16 and 22 in the other case. The 11q13 region was concomitantly rearranged on both chromosomes 11. FISH studies revealed large heterozygous deletions within the 11q13 band, from 11q13.1 to 11q13.5. Genes such as PYGM, MEN1, CCND1, FGF3, ARIX, and GARP were deleted, showing that the size of the 11q13 altered region was larger than previously reported. Furthermore, both tumors had breakpoints in 11q13.5, one of them in the immediate proximity of the GARP gene. Our results suggest that rearrangements of GARP or a neighboring gene may be important for the pathogenesis of hibernomas.
authors.affiliation: Laboratoire de Génétique, Centre Hospitalier Universitaire de Nice, Université de Nice-Sophia Antipolis, France. pedeutou@unice.fr
authors.forename: Georges
authors.initials: G
authors.lastname: Maire
authors.forename: Anne
authors.initials: A
authors.lastname: Forus
authors.forename: Cyril
authors.initials: C
authors.lastname: Foa
authors.forename: Bodil
authors.initials: B
authors.lastname: Bjerkehagen
authors.forename: Claire
authors.initials: C
authors.lastname: Mainguené
authors.forename: Stine H
authors.initials: SH
authors.lastname: Kresse
authors.forename: Ola
authors.initials: O
authors.lastname: Myklebost
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D000328:Adult; D019457:Chromosome Breakage / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008067:Lipoma / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D019042:Muscle Neoplasms / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: C087215:LRRC32 protein, human; D008565:Membrane Proteins