Cytogenetic findings in benign cartilaginous neoplasms

Buddingh, Emilie P.; Naumann, Sabine; Nelson, Marilu; Neffa, James R; Birch, Nathan C.; Bridge, Julia A.

doi:10.1016/s0165-4608(02)00726-4

Cited by 53 publications

(23 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Previous studies have described clonal cytogenetic abnormalities in 7 periosteal chondromas, but no specific aberration pattern has been detected (2)(3)(4). In other studies, IDH1 mutations were observed in 6 out of the 8 periosteal chondromas examined (5,6).…”

Section: Introductionmentioning

confidence: 79%

Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

et al. 2015

View full text Add to dashboard Cite

Abstract. Periosteal chondroma is a benign cartilage tumor that accounts for <2% of chondromas. In the present study, four cases of periosteal chondromas were cytogenetically investigated and studied for the expression of high-mobility group AT-hook 2 (HMGA2), mutations in codons 132 of isocitrate dehydrogenase (IDH)1 and 172 of IDH2; mutations -C228T and -C250T in the promoter region of telomerase reverse transcriptase (TERT); and for methylation in the promoter regions of O-6-methylguanine-DNA methyltransferase (MGMT) and cellular retinol binding protein 1 (CRBP1). Chromosome aberrations of 12q13-15 were found in two out of the four tumors, while two had a normal karyotype. Two periosteal chondromas carried the mutation IDH1R132C (CGT>TGT), and two carried the mutation IDH1R132L (CGT>CTT). However, none of the four tumors had methylated MGMT and CRBP1 promoters or mutations at codon 172 of IDH2. In addition, -C228T and -C250T mutations were not present in the promoter region of TERT, nor was HMGA2 demonstrated to be expressed. The present study indicated that in periosteal chondromas, the involvement of 12q13-15 in structural rearrangements may be recurrent but that HMGA2 is not expressed. Additionally, the periosteal chondromas investigated in the study carried a heterozygous IDH1R132 mutation, the MGMT and CRBP1 promoters were not methylated, and -C228T and -C250T mutations in the promoter region of TERT were absent.

show abstract

Section: Introductionmentioning

confidence: 79%

Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

et al. 2015

View full text Add to dashboard Cite

show abstract

“…gov/Chromosomes/ 2009). [23][24][25][26] Despite the extensive analyses performed, the mechanisms underlying the genesis of CMF remains elusive. A transcriptomic approach might be helpful, combining wide genome scale expression profiling and microRNA profiling with the observed genetic changes.…”

Section: Discussionmentioning

confidence: 99%

Heterogeneous and Complex Rearrangements of Chromosome Arm 6q in Chondromyxoid Fibroma

Romeo

Duim

Bridge

et al. 2010

The American Journal of Pathology

View full text Add to dashboard Cite

Chondromyxoid fibroma (CMF) is an uncommon benign cartilaginous tumor of bone usually occurring during the second decade of life. CMF is associated with recurrent rearrangements of chromosome bands 6p23-25, 6q12-15, and 6q23-27. To delineate further the role and frequency of the involvement of three candidate regions (6q13, 6q23.3 and 6q24) in the pathogenesis of CMF, we studied a group of 43 cases using a molecular cytogenetic approach. Fluorescence in situ hybridization with probe sets bracketing the putative breakpoint regions was performed in 30 cases. The expression level of nearby candidate genes was studied by immunohistochemistry and quantitative RT-PCR in 24 and 23 cases, respectively. Whole-genome copy number screening was performed by array comparative genomic hybridization in 16 cases. Balanced and unbalanced rearrangements of 6q13 and 6q23.3 occurred in six and five cases, respectively, and a hemizygous deletion in 6q24 was found in five cases. Two known tumor suppressor genes map to the latter region: PLAGL1 and UTRN. However, neither of these two genes nor BCLAF1 and COL12A1, respectively located in 6q23.3 and 6q13, showed altered expression. Therefore, although rearrangements of chromosomal regions 6q13, 6q23.3, and 6q24 are common in CMF, the complexity of the changes precludes the use of a single fluorescence in situ hybridization probe set as an adjunct diagnostic tool. These data indicate that the genetic alterations in CMF are heterogeneous and are likely a result of a cryptic rearrangement beyond the resolution level of combined binary ratio fluorescence in situ hybridization or a point mutation.

show abstract

“…These mutations might represent early postzygotic genetic events and account for the initiation of the disease process [15,37]. Furthermore, rearrangements of chromosome 6 and the long arm of chromosome 12 (particularly q13q15) seem to be recurrent in chondromas, also including soft tissue chondromas [38]. Array comparative genomic hybridization data showed highly variable genetic abnormalities including gain and loss of several chromosomes [39].…”

mentioning

confidence: 99%

Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up

Herget¹,

Strohm²,

Rottenburger³

et al. 2014

neo

View full text Add to dashboard Cite

Cytogenetic findings in benign cartilaginous neoplasms

Cited by 53 publications

References 30 publications

Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

Heterogeneous and Complex Rearrangements of Chromosome Arm 6q in Chondromyxoid Fibroma

Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up

Contact Info

Product

Resources

About