Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma

Feely, Michael G.; Boehm, Amber K; Bridge, Robert S.; Krallman, Pamela A; Neff, James R.; Nelson, Marilu; Bridge, Julia A.

doi:10.1016/s0165-4608(02)00557-5

Cited by 32 publications

(15 citation statements)

References 22 publications

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“…This is supported by studies based on CGH in which no DNA copy number changes were seen in 15 tumors and normal karyotypes in nine [92]. Molecular cytogenetic studies of the EXT1 locus have revealed recurrent loss of this region in both karyotypically normal and abnormal hereditary and sporadic osteochondromas [93], suggesting that submicroscopic changes may be present.…”

Section: Osteochondromamentioning

confidence: 72%

Genetics of chondrosarcoma and related tumors

Sandberg

2004

Current Opinion in Oncology

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Although some cartilaginous tumors are characterized by specific or recurrent chromosome alterations and molecular genetic changes, much is yet to be learned about the nature and sequence of these genetics events and about their unique role in the stepwise process involved in the development and biology of each tumor type, both malignant and nonmalignant. Until such time, some of the genetic changes, particularly the presence of specific translocations, can be of definite diagnostic value.

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Section: Osteochondromamentioning

confidence: 72%

Genetics of chondrosarcoma and related tumors

Sandberg

2004

Current Opinion in Oncology

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“…Molecular cytogenetic studies have also revealed recurrent loss of submicroscopic regions in both karyotypically normal and abnormal soft tissue tumors. 44 A previous study from our laboratory described a combined cytogenetic, array-based CGH and expression analyses in a subset of prostate carcinomas. 45 A close correlation between karyotype, CGH, and molecular data was observed for most tumors.…”

Section: Clivalmentioning

confidence: 99%

Cytogenetic analysis of 101 skull base tumors

et al. 2007

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“…LOH detected by microsatellite analysis using DNA isolated from the cartilaginous cap was found almost exclusively at the EXT1 locus (27). Fluorescence in situ hybridization revealed loss of the 8q24.1 locus in 27̸34 (79%) osteochondromas (29). Finally, in 7̸8 solitary osteochondromas, homozygous deletion of EXT1 was detected (30).…”

Section: Discussionmentioning

confidence: 96%

Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle

Zhou

Chen

et al. 2016

Molecular and Clinical Oncology

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Abstract. Exostosin glycosyltransferase (EXT) 1 and EXT2 have been identified as causative genes in osteochondroma; however, it is not known whether these genes are also involved in condylar osteochondromas. The aim of this study was to identify EXT1 and EXT2 mutations in patients with non-hereditary osteochondromas of the mandibular condyle. DNA was obtained from resected tissues (cartilage cap) of 12 patients with solitary condylar osteochondromas. The exons, 3',5'-untranslated regions and intron-exon boundaries of EXT1 and EXT2 were amplified by polymerase chain reaction and the products were sequenced directly. Through direct sequencing, four genetic variations of EXT1 in 4 cases and three variations of EXT2 in 5 cases were identified. The intronic alteration of the EXT2 gene, occurring in 2 cases, was novel, whereas the other alterations had been previously reported. Nonsense somatic mutations were detected in tumor DNA. Our study extended the mutational spectrum in EXT1 and EXT2 and may facilitate a better understanding of the pathophysiology of condylar osteochondromas.

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Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma

Cited by 32 publications

References 22 publications

Genetics of chondrosarcoma and related tumors

Genetics of chondrosarcoma and related tumors

Cytogenetic analysis of 101 skull base tumors

Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle

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