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Research advances in molecular biology of carotid body tumour
598 Free Papers—Poster Presentations commensurate with the patient throughout life and never involute. From a prognostic standpoint, vascular malformations may need intervention as early as possible. So we must differentiate haemangiomas from vascular malformations early and accurately. In this review, we summarise the highlights of the diagnosis between haemangiomas and vascular malformations. doi:10.1016/j.ijom.2009.03.700
P228 Research advances in molecular biology of carotid body tumour Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
The carotid body (CB) is a highly specialised small organ located at the bifurcation of the common carotid artery in the neck and plays an important role in acute adaptation to hypoxia, which is the most common tumour site in head and neck paragangliomas. Although Carotid body tumours (CBTs) are mostly slow-growing and benign, they can cause significant morbidity because of their proximity to major arteries and nerves in the head and neck. CBTs can be caused by a genetic predisposition and by chronic hypoxic stimulation. Currently, inactivating germline mutations in the mitochondrial complex II subunits SDHB (succinate dehydrogenase B), SDHC, and SDHD have been identified as genetic risk factors for CBTs. Another locus at chromosome 11q13, identified by linkage analysis in a single family, may harbour a fourth susceptibility gene. This review highlights the recent research advances in etiologic mechanism of molecular biological aspect of CBT. doi:10.1016/j.ijom.2009.03.701
P229 Fibronectin: a characterisation of somatic mutation in Sturge-Weber syndrome Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma.The cause of this disease remains unclear. During to the occurrence of
localised abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin increased gene expression in the SWS port wine-derived fibroblasts. Fibronectin is an important extracellular matrix molecule with key roles in regulating angiogenesis and vasculogenesis, in maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. This is consistent with the presence of a hypothesised somatic mutation underlying SWS. In this study, we have proposed that fibronectin may be a reflection of somatic mutation. Further research should be done to study the role of fibronectin in the pathogenesis of SWS. Understanding the pathophysiology of SWS will help us to establish future neuroprotective strategies and novel treatment modalities. doi:10.1016/j.ijom.2009.03.702
P230 Research advances in relationship between RASA1 and vascular anomalies Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
RASA1 is located on chromosome 5, coding for p120-RasGTPase–activating protein (p120-RasGAP). The bestknown function of P120-RasGAP is as a negative regulator of the Ras/MAPKsignalling pathway, which mediates cellular growth, differentiation, and proliferation from various receptor tyrosine kinases (RTKs) on cell surfaces. The studies of RASA1-deficient cells have shown that p120-RasGAP is required for properly directed cellular movement. Loss-of-function mutations in this gene are associated with vascular anomalies in humans as well as in mice. Inactivating heterozygous mutations in the RASA1 gene have been recently shown to be associated with the co-occurrence of Capillary malformations and arteriovenous malformations or arteriovenous fistula. RASA1 plays a critical role in the pathogenesis of vascular anomalies, and significant advances have been made in recent years. This review highlights the recent research advances in the relationship between RASA1 and vascular anomalies. doi:10.1016/j.ijom.2009.03.703
P231 Intraosseous haemangioma of the zygomatic bone B.S. Kim ∗ , M.S. Han, S.G. Jung, H.J. Park, S.Y. Ryu Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonnal National University, Donggu, Gwangju, Korea
Intraosseous haemangiomas are rare and constitute less than 1 percent of all bone neoplasms. The sites most commonly involved are the vertebral column and the skull. The parietal bone is most commonly involved followed by the frontal bone, but lesions also occur in the base of the skull and in particular the occiput and petrous temporal bone. In the facial bones, haemangiomas occur in the mandible, maxilla, and nasal bones, but they are extremely rare in the zygoma. A 41year-old woman presented because of a hard swelling in the right zygoma. This mass, had enlarged slowly. She had a history of a trauma, 2 years ago. A 2.5-cm diameter dome-shaped, immobile, and bony-hard swelling was observed in the body of the right zygoma. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a 2.5cm diameter circumscribed mass in the right zygoma and the mass was diagnosed as intraosseous haemangioma by CT and MRI. Before the surgery, embolisation at tumour feeding artery from the right intraorbital artery was performed. The right infraorbital rim and bony mass at the zygomatic bone was exposed by transconjunctival approach with lateral canthotomy, and the mass and zygomaticomaxillary complex was exposed by intraoral approach. The entire mass was resected. Reshaped zygoma looked natural, compared to the left side. Histological examination of the surgical specimen confirmed the diagnosis of cavernous haemangioma and showed irregularly dilated thin walled vascular channel containing haematoma. Peak incidence occurs in the fourth and fifth decades of life, and women are affected more commonly than men. CT is considered the most useful imaging technique. Typically it shows a ‘honeycomb’ appearance. In the past, radiotherapy and intralesional injection of sclerosing agents were tried, but total surgical excision is the preferred method of treatment in these days. Reconstruction of the surgical defect could be done with calvarial bone graft or with hydroxyapatite. doi:10.1016/j.ijom.2009.03.704
P228 Research advances in molecular biology of carotid body tumour Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
The carotid body (CB) is a highly specialised small organ located at the bifurcation of the common carotid artery in the neck and plays an important role in acute adaptation to hypoxia, which is the most common tumour site in head and neck paragangliomas. Although Carotid body tumours (CBTs) are mostly slow-growing and benign, they can cause significant morbidity because of their proximity to major arteries and nerves in the head and neck. CBTs can be caused by a genetic predisposition and by chronic hypoxic stimulation. Currently, inactivating germline mutations in the mitochondrial complex II subunits SDHB (succinate dehydrogenase B), SDHC, and SDHD have been identified as genetic risk factors for CBTs. Another locus at chromosome 11q13, identified by linkage analysis in a single family, may harbour a fourth susceptibility gene. This review highlights the recent research advances in etiologic mechanism of molecular biological aspect of CBT. doi:10.1016/j.ijom.2009.03.701
P229 Fibronectin: a characterisation of somatic mutation in Sturge-Weber syndrome Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma.The cause of this disease remains unclear. During to the occurrence of
localised abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin increased gene expression in the SWS port wine-derived fibroblasts. Fibronectin is an important extracellular matrix molecule with key roles in regulating angiogenesis and vasculogenesis, in maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. This is consistent with the presence of a hypothesised somatic mutation underlying SWS. In this study, we have proposed that fibronectin may be a reflection of somatic mutation. Further research should be done to study the role of fibronectin in the pathogenesis of SWS. Understanding the pathophysiology of SWS will help us to establish future neuroprotective strategies and novel treatment modalities. doi:10.1016/j.ijom.2009.03.702
P230 Research advances in relationship between RASA1 and vascular anomalies Q. Zhou ∗ , J.W. Zheng Department of Oral and Maxillofacial Surgery, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
RASA1 is located on chromosome 5, coding for p120-RasGTPase–activating protein (p120-RasGAP). The bestknown function of P120-RasGAP is as a negative regulator of the Ras/MAPKsignalling pathway, which mediates cellular growth, differentiation, and proliferation from various receptor tyrosine kinases (RTKs) on cell surfaces. The studies of RASA1-deficient cells have shown that p120-RasGAP is required for properly directed cellular movement. Loss-of-function mutations in this gene are associated with vascular anomalies in humans as well as in mice. Inactivating heterozygous mutations in the RASA1 gene have been recently shown to be associated with the co-occurrence of Capillary malformations and arteriovenous malformations or arteriovenous fistula. RASA1 plays a critical role in the pathogenesis of vascular anomalies, and significant advances have been made in recent years. This review highlights the recent research advances in the relationship between RASA1 and vascular anomalies. doi:10.1016/j.ijom.2009.03.703
P231 Intraosseous haemangioma of the zygomatic bone B.S. Kim ∗ , M.S. Han, S.G. Jung, H.J. Park, S.Y. Ryu Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonnal National University, Donggu, Gwangju, Korea
Intraosseous haemangiomas are rare and constitute less than 1 percent of all bone neoplasms. The sites most commonly involved are the vertebral column and the skull. The parietal bone is most commonly involved followed by the frontal bone, but lesions also occur in the base of the skull and in particular the occiput and petrous temporal bone. In the facial bones, haemangiomas occur in the mandible, maxilla, and nasal bones, but they are extremely rare in the zygoma. A 41year-old woman presented because of a hard swelling in the right zygoma. This mass, had enlarged slowly. She had a history of a trauma, 2 years ago. A 2.5-cm diameter dome-shaped, immobile, and bony-hard swelling was observed in the body of the right zygoma. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a 2.5cm diameter circumscribed mass in the right zygoma and the mass was diagnosed as intraosseous haemangioma by CT and MRI. Before the surgery, embolisation at tumour feeding artery from the right intraorbital artery was performed. The right infraorbital rim and bony mass at the zygomatic bone was exposed by transconjunctival approach with lateral canthotomy, and the mass and zygomaticomaxillary complex was exposed by intraoral approach. The entire mass was resected. Reshaped zygoma looked natural, compared to the left side. Histological examination of the surgical specimen confirmed the diagnosis of cavernous haemangioma and showed irregularly dilated thin walled vascular channel containing haematoma. Peak incidence occurs in the fourth and fifth decades of life, and women are affected more commonly than men. CT is considered the most useful imaging technique. Typically it shows a ‘honeycomb’ appearance. In the past, radiotherapy and intralesional injection of sclerosing agents were tried, but total surgical excision is the preferred method of treatment in these days. Reconstruction of the surgical defect could be done with calvarial bone graft or with hydroxyapatite. doi:10.1016/j.ijom.2009.03.704