Deletion 1p in a Low-Grade Chondrosarcoma in a Patient with Ollier Disease

Özışık, Yavuz; Meloni, Aurelia M.; Spanier, Suzanne S.; Bush, Charles H.; Kingsley, Kristine L.; Sandberg, Avery A.

doi:10.1016/s0165-4608(98)00027-2

Cited by 29 publications

(14 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2 ). Rare chromosome 1 alterations, 1p11p21 in- [Matsumoto et al, 1986;Ozisik et al, 1998;Rozeman et al, 2004]. Thus, chromosome 1p may contain genetic material that is involved in the pathogenesis of the lesions in MS. Mutation on arginine 132 of IDH1 has been found in chondrosarcoma [Amary et al, 2011].…”

Section: Discussionmentioning

confidence: 99%

“…Karyotyping is usually normal in patients with MS and OD. Somatic LOH on 13q14 and 9p21 , as well as deletion in 1p and inversion in chromosome 9, were found in rare patients with enchondromatosis [Ozisik et al, 1998;Bovée et al, 2000Bovée et al, , 2001. Overexpression of p53 has been noted in benign and metastatic cartilaginous tumors [Bovée et al, 1999[Bovée et al, , 2000[Bovée et al, , 2001.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

et al. 2014

View full text Add to dashboard Cite

Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations in the PTHR1 gene have been identified in 4 patients; 3 were somatic and 1 was germline. No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD. These genetic alterations are shared with other tumors, including glioma, leukemia and carcinoma. To search for underlying somatic genomic causes, we screened MS tissues using Affymetrix SNP-chips. We looked for CNVs, LOH and uniparental isodisomy (UPID) by performing pairwise analyses between allelic intensities in tumoral DNA versus the corresponding blood-extracted DNA. While common chromosomal anomalies were absent in constitutional DNA, several shared CNVs were identified in MS-associated tumors. The most frequently encountered somatic alterations were localized in 2p22.3, 2q24.3 and 14q11.2, implicating these chromosomal rearrangements in the formation of enchondromas and spindle cell hemangiomas in MS. In one chondrosarcoma specimen, large amplifications and/or deletions were observed in chromosomes 3, 6, 9, 10, 12, 13, and 19. Some of these genetic changes have been reported in other chondrosarcomas suggesting an etiopathogenic role. No LOH/UPID was observed in any Maffucci tissue. Our findings identify frequent somatic chromosomal rearrangements on 2p22.3, 2q24.3 and 14q11.2, which may unmask mutations leading to the lesions pathognomonic of MS.

show abstract

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

et al. 2014

View full text Add to dashboard Cite

show abstract

“…The pathogenesis is still unknown. Recent cytogenetic studies have revealed several chromosomal abnormalities in patients with multiple enchondromatoses, leading to sarcoma transformation [4,14]. Liu et al have found that approximately 30% of patients (mean age at diagnosis was 40.5 years) with Ollier's disease will develop a malignant bone neoplasm, most probably chondrosarcoma [11].…”

Section: Discussionmentioning

confidence: 99%

Ollier's Disease Treated with Grafting Using Alpha-tricalcium Phosphate Cement. ACase Report

Sasaki

Hatori

Abe

et al. 2006

Upsala Journal of Medical Sciences

View full text Add to dashboard Cite

Ollier's disease is a rare disorder characterized by multiple enchondromas with a unilateral predominance, especially in fingers in early childhood. We experienced a case of Ollier's disease treated four times with simple curettage from the age of 2 years and alpha-tricalcium phosphate cement grafting at the age of 21 years. The forth curettage was performed when the patient was 15 years old and preoperative X-rays had shown remarkable finger deformities. Postoperative casting of the involved joints was necessary to prevent fractures but led to some finger contractures. Following X-rays demonstrated incredible improvement of the appearance. This suggests that simple curettage alone at an early stage of Ollier's disease provide cosmetic improvement.At the age of 21 years our patient showed enlargement of the intramedullary finger lesions again. Some lesions seemed to be impending pathological fractures. This time we chose alpha-tricalcium phosphate cement to fill the cavities after curettage had been carried out. Harvesting a large amount of autologous bone was not required. All activities of daily life could be resumed immediately after surgery and none of the finger joints showed further restriction of motion. X-rays taken three years after the operation showed new bone ingrowth surrounding the material with little evidence of absorption. To our knowledge, this may be the first case of Ollier's disease treated with artificial bone grafting reported in the English literature. 249

show abstract

“…Cytogenetic analysis showed a interstitial deletion at chromosomal region 1p in one case [Ozisik et al, 1998], loss of heterozygosity (LOH) at 13q14 and 9p21 and p53 overexpression in chondrosarcoma in another case [Bovée et al, 2000a], and recently, Hopyan et al [2002] described a mutation in the parathyroid hormone receptor 1 (PTHR1, MIM# 168468), PTHR1 c.448C4T (p.R150C PTHR1), which was found in two of six patients with Ollier disease, one a germline and the other probably a somatic mutation. This mutation was absent in 50 solitary chondrosarcomas and 100 unaffected individuals [Hopyan et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

et al. 2004

View full text Add to dashboard Cite

Communicated by Arnold MunnichEnchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. The mutation is thought to result in upregulation of the IHH/ PTHrP pathway. This is in contrast to previous studies, showing downregulation of this pathway in other cartilaginous tumors. Therefore, we investigated PTHR1 in enchondromas and chondrosarcomas from 31 enchondromatosis patients from three different European countries, thereby excluding a population bias. PTHR1 protein expression was studied using immunohistochemistry, revealing normal expression. The presence of the described PTHR1 mutation was analyzed, using allele-specific oligonucleotide hybridization confirmed by sequence analysis, in tumors from 26 patients. In addition, 11 patients were screened for other mutations in the PTHR1 gene by sequence analysis. Using both allele-specific oligonucleotide hybridization and sequencing, we could neither confirm the previously found mutation nor find any other mutations in the PTHR1 gene. These results indicate that the PTHR1 gene is not, in contrast to previous suggestions, the culprit for enchondromatosis. Hum Mutat 24: [466][467][468][469][470][471][472][473] 2004. r 2004 Wiley-Liss, Inc.

show abstract

Deletion 1p in a Low-Grade Chondrosarcoma in a Patient with Ollier Disease

Cited by 29 publications

References 22 publications

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Ollier's Disease Treated with Grafting Using Alpha-tricalcium Phosphate Cement. ACase Report

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

Contact Info

Product

Resources

About