title: Genome-wide analysis of loss of heterozygosity and copy number amplification in uterine leiomyomas using the 100K single nucleotide polymorphism array.
abstract: OBJECTIVE
  Uterine leiomyomas (fibroids) are benign smooth muscle tumors commonly found among reproductive-aged women. Though benign, these tumors are the leading indication for hysterectomies in the United States and cause significant morbidity. Despite the importance of this tumor in women's health, relatively little is known about the molecular etiology.
  
  
  METHODS
  In this study, we used the Affymetrix 100K single nucleotide polymorphism (SNP) chip to assess whether the pattern and frequency of genome-wide loss of heterozygosity (LOH) and copy number amplifications is associated with clinical heterogeneity.
  
  
  RESULTS
  Thirty-seven tumors with varying sizes and histology from eleven patients were analyzed. LOH was observed in 4/37 tumors (10.8%) and significantly associated with large-sized tumors (p<0.0014). Two tumors revealed hemizygosity on chromosome 7q, a region that has been consistently reported to have LOH. Additionally, we detected one novel region of LOH, 16p13.11 in one tumor (2.7%). Copy number amplifications were observed on all chromosomes; however, most were low-level amplifications and only detected in a single tumor. One region of amplification at 3p26.3 was detected in four tumors.
  
  
  CONCLUSIONS
  Despite the use of a high-density SNP platform, our results suggest that genome-wide LOH and copy number amplifications are infrequent events and generally do not determine clinical and histologic characteristics of this disease.
authors.affiliation: Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
authors.forename: Kellen L
authors.initials: KL
authors.lastname: Meadows
authors.forename: Danica M K
authors.initials: DM
authors.lastname: Andrews
authors.forename: Zongli
authors.initials: Z
authors.lastname: Xu
authors.forename: Gleta K
authors.initials: GK
authors.lastname: Carswell
authors.forename: Shannon K
authors.initials: SK
authors.lastname: Laughlin
authors.forename: Donna D
authors.initials: DD
authors.lastname: Baird
authors.forename: Jack A
authors.initials: JA
authors.lastname: Taylor
mesh_terms: D002885:Chromosomes, Human, Pair 16; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D056915:DNA Copy Number Variations; D005260:Female; D005784:Gene Amplification; D018628:Gene Dosage; D023281:Genomics; D006801:Humans; D007889:Leiomyoma / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology