PURPOSE: Uterine @entity2909 ( @entity2909 ) are benign smooth @entity11090 commonly found among reproductive-aged @entity1 . Though benign, these @entity5 are the leading indication for hysterectomies in the United States and cause significant morbidity. Despite the importance of this @entity5 in @entity1 '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 @entity5 with varying sizes and histology from eleven @entity1 were analyzed. LOH was observed in 4/37 @entity5 (10.8%) and significantly associated with large-sized @entity5 (p<0.0014). Two @entity5 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 @entity5 (2.7%). Copy number amplifications were observed on all chromosomes; however, most were low-level amplifications and only detected in a @entity5 . One region of amplification at 3p26.3 was detected in four @entity5 . 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.

Genome-wide analysis of loss of heterozygosity and copy number amplification in uterine XXXX using the 100K single nucleotide polymorphism array.

@entity1 :: ('9606', 'Species') :: ['women', 'patients'] @entity2909 :: ('MESH:D007889', 'Disease') :: ['leiomyomas', 'fibroids'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'single tumor', 'tumors'] @entity11090 :: ('MESH:D019042', 'Disease') :: ['muscle tumors']
@entity2909 :: (MESH:D007889,Disease) :: ['leiomyomas']
