人程序性细胞死亡因子10(programmed cell death 10,PDCD10)最初被称为TFAR15(TF-1 cell apoptosis related gene 15),是在1999年运用cDNA-RDA技术首先克隆得到的一个新基因,早期研究提示与凋亡抑制功能相关.近期国外多项研究证明,PDCD1...人程序性细胞死亡因子10(programmed cell death 10,PDCD10)最初被称为TFAR15(TF-1 cell apoptosis related gene 15),是在1999年运用cDNA-RDA技术首先克隆得到的一个新基因,早期研究提示与凋亡抑制功能相关.近期国外多项研究证明,PDCD10基因的缺失和突变与颅内海绵状血管瘤(cerebral cavernous malformations,CCM)的发生密切相关,CCM的第三个致病基因CCM3即为PDCD10.此外,其他研究表明,PDCD10受到严格的表达调控,在多种肿瘤组织中表达明显上调,提示可能在肿瘤的信号转导通路中起重要作用.最近通过对PDCD10相互作用蛋白的分析和研究,首次证实了PDCD10可以和Ste20激酶家族成员MST4相互作用,增强其激酶活性,并进而通过对ERK-MAPK通路的调控,促进细胞增殖和转化.以上研究证明了PDCD10的多种生物学效应,并提示其在血管生成和肿瘤中发挥重要作用.展开更多
Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a c...Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.展开更多
Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation （CCM）. We describe a man with ...Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation （CCM）. We describe a man with a right temporal lobe CCM, after gamma-knife radiotherapy, the patient developed a low-grade astrocytoma in the area of the preexistent CCM. This case, together with other reports, may indicated an oncogenetic properties of CCM, and we proposed that CCM may be a pre-glioma lesion.展开更多
Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16...Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.展开更多
INTRODUCTIOIN Cerebral cavernous malformation （CCM）, also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pr...INTRODUCTIOIN Cerebral cavernous malformation （CCM）, also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pregnancies, Nowadays,展开更多
Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited ...Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition. To the best of our knowledge, cases of glioblastoma in the cerebral hemisphere mimicking cavernous malformation have not been reported in the literature. We reported a case of glioblastoma mimicking CCM. The patient was admitted at our hospital in July 2015 due to a 9-day history of intermittent dizziness. The present study reports a case of a glioblastoma on the right temporal lobe mimicking CCM, which was confirmed by postoperative pathology. The diagnosis of glioblastoma was not determined even during surgery, and the lesion was totally resected with no complications. During the surgical procedure, the lesion was very similar to a CCM. In conclusion, it is difficult to distinguish between glioblastoma and CCM. Therefore, when a lesion is present with hemorrhage and the imaging features are very similar to a vascular disease, a tumor must be considered in the differential diagnosis.展开更多
文摘Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.
基金This work was supported by grants from National Natural Science Foundation of China （No. 81172409）, and National ＂863＂ Key Project （No. 2012AA02A508）.
文摘Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation （CCM）. We describe a man with a right temporal lobe CCM, after gamma-knife radiotherapy, the patient developed a low-grade astrocytoma in the area of the preexistent CCM. This case, together with other reports, may indicated an oncogenetic properties of CCM, and we proposed that CCM may be a pre-glioma lesion.
基金the Medical Health Science and Tech-nology General Program of Guangzhou,No. 2009-YB-042
文摘Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.
文摘INTRODUCTIOIN Cerebral cavernous malformation （CCM）, also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pregnancies, Nowadays,
基金Supported by Tsinghua-Yuquan Medical Research Funds(No.20240000513)
文摘Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition. To the best of our knowledge, cases of glioblastoma in the cerebral hemisphere mimicking cavernous malformation have not been reported in the literature. We reported a case of glioblastoma mimicking CCM. The patient was admitted at our hospital in July 2015 due to a 9-day history of intermittent dizziness. The present study reports a case of a glioblastoma on the right temporal lobe mimicking CCM, which was confirmed by postoperative pathology. The diagnosis of glioblastoma was not determined even during surgery, and the lesion was totally resected with no complications. During the surgical procedure, the lesion was very similar to a CCM. In conclusion, it is difficult to distinguish between glioblastoma and CCM. Therefore, when a lesion is present with hemorrhage and the imaging features are very similar to a vascular disease, a tumor must be considered in the differential diagnosis.
