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11q13 Alterations in two cases of hibernoma: Large heterozygous deletions and rearrangement breakpoints near GARP in 11q13.5 by Georges Maire; Anne Forus; Cyril Foa; Bodil Bjerkehagen; Claire Mainguené; Stine H. Kresse; Ola Myklebost; Florence Pedeutour is a Medicine article available to read on EtoBox.
What is 11q13 Alterations in two cases of hibernoma: Large heterozygous deletions and rearrangement breakpoints near GARP in 11q13.5 about?
## 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__ we
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- Author
- Georges Maire; Anne Forus; Cyril Foa; Bodil Bjerkehagen; Claire Mainguené; Stine H. Kresse; Ola Myklebost; Florence Pedeutour
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Life Sciences)