title: Assessing the contribution of HRPT2 to the pathogenesis of jaw fibrous dysplasia, ossifying fibroma, and osteosarcoma.
abstract: OBJECTIVE
  To investigate HRPT2 in jaw ossifying fibroma (OF), fibrous dysplasia (FD), and osteosarcoma (OS).
  
  
  METHODS
  We combined microsatellite loss of heterozygosity (LOH), HRPT2 sequence alterations at the mRNA level by reverse-transcription polymerase chain reaction (PCR), cDNA sequencing, and quantitative PCR (qPCR) and immunohistochemistry (IHC) in a total of 19 OF, 15 FD, and 9 OS. Because HRPT2 (parafibromin) interacts with cyclin D1, we investigated cyclin D1 expression with the use of qPCR and IHC.
  
  
  RESULTS
  LOH was detected in 3/5 FD, 6/9 OF, and 2/2 OS heterozygous samples. LOH was not associated with decreased mRNA levels or HRPT2 protein expression except for 1 OF which harbored an inactivating mutation. However, this tumor did not display altered transcription or protein levels of HRPT2 nor cyclin compared with the other OF.
  
  
  CONCLUSIONS
  The contribution of HRPT2 inactivation to the pathogenesis of OF, FD, and OS is marginal at best and may be limited to progression rather than tumor initiation.
authors: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Ana Carolina
authors: AC
authors: de Mesquita Netto
authors: Ricardo Santiago
authors: RS
authors: Gomez
authors: Marina Gonçalves
authors: MG
authors: Diniz
authors: Thiago
authors: T
authors: Fonseca-Silva
authors: Kelma
authors: K
authors: Campos
authors: Luiz
authors: L
authors: De Marco
authors: Román
authors: R
authors: Carlos
authors: Carolina Cavaliéri
authors: CC
authors: Gomes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D019938:Cyclin D1 / Q000235:genetics; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D018214:Fibroma, Ossifying / Q000235:genetics*; D005357:Fibrous Dysplasia of Bone / Q000235:genetics*; D020868:Gene Silencing; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007571:Jaw Diseases / Q000235:genetics*; D007573:Jaw Neoplasms / Q000235:genetics*; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D012516:Osteosarcoma / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C530104:CCND1 protein, human; C454900:CDC73 protein, human; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins; D019938:Cyclin D1