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(American Journal of Pathology. 1999;155:61-66.)
© 1999 American Society for Investigative Pathology

Short Communication

Hibernomas are Characterized by Homozygous Deletions in the Multiple Endocrine Neoplasia Type I Region

Metaphase Fluorescence in Situ Hybridization RevealsComplex Rearrangements Not Detected by Conventional Cytogenetics

David Gisselsson^*, Mattias Höglund^*, Fredrik Mertens^*, Paola Dal Cin and Nils Mandahl^*

From the Department of Clinical Genetics,^*
University Hospital, Lund, Sweden; and Center for Human Genetics,
University of Leuven, Leuven, Belgium

Hibernomas are benign tumors of brown fat, frequently characterized by aberrations of chromosome band 11q13. In this study, the chromosome 11 changes in five hibernomas were analyzed in detail by metaphase fluorescence in situ hybridization. In all cases, complex rearrangements leading to loss of chromosome 11 material were found. Deletions were present not only in those chromosomes that were shown to be rearranged by G-banding, but in four cases also in the ostensibly normal homologues, resulting in homozygous loss of several loci. Among these, the gene for multiple endocrine neoplasia type I (MEN1) was most frequently deleted. In addition to the MEN1 deletions, heterozygous loss of a second region, approximately 3 Mb distal to MEN1, was found in all five cases, adding to previous evidence for a second tumor suppressor locus in 11q13.