Cytogenetic findings in 14 benign cartilaginous neoplasms

Sakai, Nilo; Abe, Kikue Terada; Formigli, Lia Menezes; Pereira, Marcio Fernandes; Oliveira, Maria Dulce Valverde; Cornélio, Deborah Afonso; Ferreira, Alessandra de La Roque; Kalil, Ricardo K.

doi:10.1016/j.cancergen.2011.02.004

Cited by 22 publications

(8 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of the eight periosteal chondromas previously analyzed for the presence of mutations in IDH1, mutations were observed in six: Four possessed IDH1R132C (CGT>TGT) and two possessed R132S (CGT>AGT) (4,5). Viewing the present and previously published data in concert (5,6), mutations in codon 12 of IDH1 have been present in the majority (83%, 10/12) of examined periosteal chondromas.…”

Section: Discussionsupporting

confidence: 62%

“…Changes observed in periosteal chondromas in the previous study included loss of chromosome 6 and rearrangements of 2q37, 4q21-25, 11q13-15 and 12q13 (4). The present study demonstrated that the q arm of chromosome 12 was involved in two out of the two periosteal chondromas with an informative karyotype.…”

Section: Discussionmentioning

confidence: 54%

“…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%

See 2 more Smart Citations

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: Discussionsupporting

confidence: 62%

Section: Discussionmentioning

confidence: 54%

See 1 more Smart Citation

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

“…A total of 7 cases with abnormal karyotypes have been reported (Table 1). No consistent abnormality has been detected, although we observed one case of a periosteal chondroma with a t(2;11)(q37;q13) (Sakai et al, 2011). This alteration was previously described in one enchondroma (Dahlen et al, 2003).…”

Section: Notesupporting

confidence: 69%

Bone: Periosteal chondroma

Sakai¹,

Rk²

2012

Atlas of Genetics and Cytogenetics in Oncology and Haematology

View full text Add to dashboard Cite

show abstract

“…8 No specific genetic predisposition has been reported; rather, the literature supports a seemingly random, haphazard collection of translocations, structural changes, and deletions on a variety of different chromosomes. 9 Given the history of trauma to the digit in our patient, it is possible that the mass developed in response to the tissue healing process, which resulted in a cell differentiation error and/or growth dysregulation. There is no published record of malignant transformation of an STC of the hand; however, surgical excision minimizes mass effect, discomfort, and the possibility of functional compromise.…”

Section: Discussionmentioning

confidence: 98%

Novel Pathologic Finding of Digital Soft Tissue Chondroma in a Child

et al. 2015

View full text Add to dashboard Cite

Unlike osteochondromata that develop in the hand, soft tissue chondromata (STC) devoid of bone and tendinous attachments are exceedingly rare. They have been described in adult patients of middle age, though have not been previously reported in the pediatric population. We report the case of a 9-year-old female that presented with a tender digital mass 6 months following a minor hand injury. After an extensive workup, the mass was surgically excised and diagnosed as an STC. Our case is the first to identify a digital STC in a pediatric patient and expands on the pathologic differential diagnosis. While the true incidence in the pediatric population is unknown, STC should be included in the differential diagnosis when any patient, adult or child, presents with a digital mass.

show abstract

Cytogenetic findings in 14 benign cartilaginous neoplasms

Cited by 22 publications

References 27 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

Bone: Periosteal chondroma

Novel Pathologic Finding of Digital Soft Tissue Chondroma in a Child

Contact Info

Product

Resources

About