title: Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case.
abstract: Apart from its hormone responsiveness, little about the pathobiology of intravenous leiomyomatosis (IVL), a rare smooth muscle proliferation, is known. We investigated the cytogenetics and molecular biology of IVL in a 40-year-old female who presented with an abrupt onset of dyspnea. In addition to the intracaval tumor mass composed of histologically benign smooth muscle, four distinct retroperitoneal "fibroids" were cytogenetically investigated. An identical abnormal karyotype, 45,XX,der(14)t(12; 14)(q15;q24),-22, was observed in all five specimens. Fluorescence in situ hybridization revealed three copies of HMGIC (alias HMGA2), two on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5' (centromeric) to HMGIC (HMGA2), as has been frequently observed in uterine leiomyoma. Such similarity in chromosomal rearrangements suggests that there may be a pathogenetic relationship between IVL and uterine leiomyomata with t(12;14). Skewed X inactivation was observed in each tumor sample, but not in the myometrium. In each tumor, the lower molecular weight allele of HUMARA was nonrandomly inactivated. This pattern of X inactivation is most consistent with origin from a single transformation event, and in this regard, IVL more closely resembles disseminated peritoneal leiomyomatosis than typical uterine leiomyomata.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. bquade@rics.bwh.harvard.edu
authors.forename: Bradley J
authors.initials: BJ
authors.lastname: Quade
authors.forename: P
authors.initials: P
authors.lastname: Dal Cin
authors.forename: D M
authors.initials: DM
authors.lastname: Neskey
authors.forename: S
authors.initials: S
authors.lastname: Weremowicz
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002999:Clone Cells; D004273:DNA, Neoplasm / Q000032:analysis; D004303:Dosage Compensation, Genetic; D005260:Female; D006609:High Mobility Group Proteins / Q000032:analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018231:Leiomyomatosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D009131:Muscle, Smooth, Vascular / Q000473:pathology*; D014594:Uterine Neoplasms / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D014599:Uterus / Q000098:blood supply*; D014652:Vascular Diseases / Q000473:pathology*; D014680:Veins / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; D006609:High Mobility Group Proteins