Synovial chondromatosis: the possible role of FGF 9 and FGF receptor 3 in its pathology

Robinson, Dror; Hasharoni, Amir; Evron, Zoharia; Segal, Michael; Nevo, Zvi

doi:10.1046/j.1365-2613.2000.00154.x

Cited by 62 publications

(42 citation statements)

References 22 publications

(18 reference statements)

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“…Based on cytogenetic work [5][6][7][8] the latter is currently favoured. The primary pathological abnormality is subsynovial cartilage neoplasia, synovial hyperplasia [9] and the production of similar-sized round cartilaginous nodules, known as chondromas.…”

Section: Introductionmentioning

confidence: 99%

A pictorial review of primary synovial osteochondromatosis

2008

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Primary synovial osteochondromatosis has a variety of radiological appearances ranging from the pathognomonic plain film appearances to the more unusual non-mineralised extraarticular manifestation of the disease. The less common manifestations of the disease require multimodality imaging to make the diagnosis. CT and MRI are particularly useful in fully characterising primary synovial osteochondromatosis and to allow for appropriate surgical planning to minimise disease recurrence.

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Section: Introductionmentioning

confidence: 99%

A pictorial review of primary synovial osteochondromatosis

2008

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“…Previous studies have suggested that FGF9 functions as an autocrine/paracrine growth factor for neuron cells (Giri et al, 1999;Kanda et al, 2000;Song and Slack, 1996), fibroblasts , and endometrial stromal cells , and as an oncogene for NIH3T3 fibroblast cells (Miyamoto et al, 1993). In addition, aberrant expression of FGF9 has been associated with several diseases: brain tumor (Todo et al, 1998), prostate cancer , endometriosis (Wing et al, 2003), and primary synovial chondromatosis (PSC) (Robinson et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

Microsatellite in the 3′ untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression

et al. 2006

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Fibroblast growth factor 9 (FGF9) is a member of secreted polypeptide families and involved in many important biological processes, including implantation and morphogenesis during embryogenesis and adult life. Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 in testicular development. We hypothesized that FGF9 is involved in sex development at an early embryonic stage in humans. In this study, we systematically screened sequences of the FGF9 gene in 21 XY females and 72 XX females and XY males to examine whether sequence variants of the FGF9 gene play a pathophysiological role on human gonadal dysgenesis. No mutation was identified, but a single nucleotide variant and two microsatellites were found. The allelic distribution of polymorphic microsatellite in the 3'-UTR of FGF9 between patients and controls was slightly different with Bonferroni correction (P = 0.06). We further applied reporter gene system and quantitative RT-PCR to study the function of this microsatellite motif and results demonstrated that the (TG) n motif modulated gene expression at both preand post-transcriptional levels. The (TG) 14 allele, which showed a potential association with male-to-female sex reversal (odds ratio = 6.08, 95% confidence interval = 1.39-26.63), displayed the strongest promoter activity and longest mRNA stability. These data demonstrated that 3'-UTR microsatellite of the FGF9 is a functional polymorphism that plays dual roles in regulating FGF9 expression. Although our preliminary result suggested a possible association between FGF9 and human gonadal dysgenesis, the major limitation of small dataset in this study points out the requirement for further investigation.

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“…They are less common and usually more aggressive than secondary cases, with a high incidence of recurrence even after synovectomy (Ardekian et al, 2005). Recent studies have tried to correlate the pathogenesis of primary SC with the expression of several immunohistochemical factors, but no definite conclusions have been drawn (Robinson et al, 2000;Sato et al, 2002;Tojyo et al, 2004). Although SC shows a male predilection in other joints, females are more commonly affected when the TMJ is involved.…”

Section: Discussionmentioning

confidence: 99%