title: Mutational analysis of the PTEN gene in human uterine sarcomas.
abstract: OBJECTIVE
  Uterine sarcomas are rare, lethal cancers, and little is known about their molecular etiology. The PTEN gene is located on chromosome 10q23.3, a region that displays frequent loss of heterozygosity in human uterine sarcomas. PTEN mutations have been described in 40% to 60% of uterine adenocarcinomas. To determine whether the PTEN gene is involved in the pathogenesis of uterine sarcoma, we analyzed deoxyribonucleic acid from uterine sarcomas and cell lines.
  
  
  METHODS
  Single-strand conformation analysis and direct sequencing of deoxyribonucleic acid were used to screen for PTEN mutations.
  
  
  RESULTS
  Silent polymorphisms were detected in 2 of 36 primary uterine sarcomas. A 4-base pair deletion and a point mutation producing a stop codon were identified in 1 cell line.
  
  
  CONCLUSIONS
  Mutational inactivation of PTEN does not play a major role in uterine sarcoma tumorigenesis, and another gene or genes on chromosome 10q may be implicated as a cause of these cancers. Differences in the molecular alterations underlying the development of uterine sarcomas and adenocarcinomas are significant.
authors.affiliation: Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Lancaster
authors.forename: J I
authors.initials: JI
authors.lastname: Risinger
authors.forename: M E
authors.initials: ME
authors.lastname: Carney
authors.forename: J C
authors.initials: JC
authors.lastname: Barrett
authors.forename: A
authors.initials: A
authors.lastname: Berchuck
mesh_terms: D002461:Cell Line, Transformed; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020868:Gene Silencing; D006801:Humans; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012509:Sarcoma / Q000235:genetics*; D014407:Tumor Cells, Cultured; D025521:Tumor Suppressor Proteins; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human