嗜铬细胞瘤诊断进展

嗜铬细胞瘤来源于交感-肾上腺系统的嗜铬细胞,其中80%～85%位于肾上腺髓质,15%～20%位于肾上腺外副神经节,以分泌儿茶酚胺为特征,引起血压升高等一系列症状与体征[1,2].     

尿儿茶酚胺检测对嗜铬细胞瘤诊断的评价

嗜铬细胞瘤是肾上腺髓质、交感神经节以及其它任何肾上腺素能受体系统的嗜铬组织能产生过多儿茶酚胺的肿瘤[1].临床上主要以心血管系统症状,尤其以不同类型继发高血压为主,兼有其它系统代谢紊乱症群.近年对来本院诊治的继发高血压,影像学定位疑似嗜铬细胞瘤患者进行尿儿茶酚胺检测,其结果报道如下:     

亚临床嗜铬细胞瘤的诊治

目的　分析亚临床嗜铬细胞瘤(PHEO)的临床特点。方法　回顾性总结并分析北京协和医院1997年～2007年收治的22例亚临床PHEO的病例资料。 结果　患者均无明显临床症状,测定24h尿儿茶酚胺正常10例,增高12例。16例患者用α受体阻滞剂进行术前准备,手术中切瘤前挤压瘤体患者血压升高的最高值、切瘤后血压下降的最低值及术中血压波动差值分别为163±34/86±20 mmHg,105±12/61±10 mmHg及58±37/25±21 mmHg;而6例未药物准备的患者上述指标分别为169±36/104±20 mmHg, 97±18/56±13 mmHg,71±48/48±29 mmHg,切瘤前DBP最高值和术中DBP波动值前者比后者均明显减少（均P<0.05）。结论　大部分亚临床PHEO患者尿儿茶酚胺升高,并且术中血压波动较大,对患者用α受体阻滞剂进行术前准备非常必要,可以减少手术风险。     

膀胱嗜铬细胞瘤临床病理分析

1　材料与方法收集本院手术治疗的膀胱嗜铬细胞瘤 3例标本 ,均用10 %福尔马林液固定 ,常规制片 ,ＨＥ染色 ,光镜观察。石蜡切片做免疫组化 (ＡＢＣ法标记 ,ＤＡＢ显色 ) ,所用抗体Ｓ 10 0蛋白、ＮＳＥ、ＣｇＡ、ＣＫ均为Ｄａｋｏ公司产品。2　结果2 .1　临床资料　 3例均为女性 ,30～ 6 4岁。血尿 1例 ,高血压 2例 ,其中月经不调 1例。 1例自主无症状 ,在体检时偶然发现。肿瘤位于膀胱左、右侧壁黏膜下或肌层内。2 .2　病理形态2 .2 .1　眼观　肿瘤直径 1 5～ 2 5ｃｍ ,切面棕黄色 ,质细 ,部分有包膜 ,灶性区有陈旧性出血。2 .2 .2　镜检　…     

良性和恶性嗜铬细胞瘤的区别

目的　分析良性和恶性嗜铬细胞瘤在组织形态、免疫组织化学、DNA倍体、11q13和 1p的杂合子缺失 (LOH)及微卫星不稳定性 (MSI)方面的差别 ,试图找出能区别良、恶性或预测恶性潜能的指标。方法　对 2 2例临床确诊为良性 (12例 )或恶性 (10例 )的嗜铬细胞瘤 :(1)分析组织形态 ;(2 )免疫组织化学观察Ki 6 7、p5 3、嗜铬粒素A、S 10 0、增殖细胞核抗原及survivin表达 ;(3)用流式细胞术分析DNA倍体 ;(4 ) 12例附有正常组织的肿瘤 (7例良性 ,5例恶性 )用显微切割获取肿瘤和正常组织 ,分别提取DNA ;用 8种引物进行PCR扩增 ,分析 11q13和 1p的LOH及MSI。结果　全组 2 2例肿瘤均未见不典型核分裂象 ,核分裂象数除 1例恶性肿瘤为 2 3/ 10HPF外 ,余均≤ 1/ 10HPF ,2例恶性肿瘤有广泛坏死。良性组Ki 6 7阳性细胞百分率明显少于恶性组 ,良性与恶性组平均Ki 6 7阳性细胞百分率之比为 0 73%∶2 4 % ,差异有显著意义 ,DNA倍体良性与恶性组差异无显著性。 11q13和 1pLOHMSI良性和恶性组的差别由于例数少 ,未能达到统计学意义。结论　仅Ki 6 7阳性表达 >3%具有区别良恶性或预测恶性潜能的意义     

异位嗜铬细胞瘤的CT诊断价值

目的探讨异位嗜铬细胞瘤的CT诊断价值,指导临床手术,降低手术风险。方法回顾性分析10例异位嗜铬细胞瘤的临床资料及CT表现,并复习文献。结果10例异位嗜铬细胞瘤术前均进行CT平扫及增强检查,8例位于腹主动脉旁,1例位于膀胱,1例位于后纵隔。平扫肿瘤呈类圆形或椭圆形,伴有囊变、坏死及钙化密度常不均匀;动脉期明显强化,病灶内或周围见增粗迂曲血管影;实质期病灶强化程度稍下降或持续强化。结论 CT检查对异位嗜铬细胞瘤的定位、定性有重要价值,并对手术方案制定及术后的随访有重要意义。     

嗜铬细胞瘤分子遗传学研究进展

嗜铬细胞瘤分散发型和家族型两大类。近年来 ,家族型嗜铬细胞瘤的分子遗传学研究取得了重要进展 ,RET原癌基因突变和 VHL 基因的失活可能分别是 MEN2和 VHL 病的致病因素。散发型嗜铬细胞瘤发病的分子机制尚未阐明 ,可能涉及癌基因的激活 ,抑癌基因的缺失以及凋亡障碍和端粒酶活性增强等诸多因素     

嗜铬细胞瘤的分子遗传学研究

嗜铬细胞瘤和副神经节瘤为自主神经系统肿瘤。以前估计约10%-15%的嗜铬细胞瘤由遗传因素导致,但近年来的研究显示RET,VHL,SDHB, SDHC, SDHD等易感基因的胚系突变率已近30%。鉴于此,建议进行遗传检查。本文就各遗传综合症,相关基因结构,与嗜铬细胞瘤相关的基因变异,基因型与表型的关联以及可能的发病机制等研究进展等作一综述。     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤的分子遗传学研究

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system. It haspreviously been estimated that approximately 10% ～ 15% of pheochromocytomas are caused by hereditary, butrecent studies indicate that the frequencies of germline mutations in RET, VHL, SDHB, SDHD together approa-ches 30%. According to this situation, genetic testing is suggested. In this article the known genetic syndromesare commonly associated with pheochromocytoma, its genes'structure, germline mutations, the association be-tween the genotype and the phenotype, and the possible pathogenesis are reviewed.     

嗜铬细胞瘤切除术中的巡回配合

嗜铬细胞瘤是发生于嗜铬组织的肿瘤,约90％来源于肾上腺髓质。由于肿瘤或肾上腺髓质的嗜铬细胞分泌大量儿茶酚胺包括肾上腺素、去甲肾上腺素和多巴胺,表现为阵发性或持续性高血压以及代谢紊乱症候群等。手术切除肿瘤是唯一有效的治疗方法,手术中由于多种因素如气管插管和体位改变,挤压肿瘤,手术探查等均可刺激瘤体,使其立即释放大量的儿茶酚胺。在结扎肿瘤血管或切除肿瘤后,体内内源性儿茶酚胺突然减少,周围血管扩张致有效循环量不足可发生低血容量性休克,同时术中血压大幅度升降可导致心律失常甚至心力衰竭等。我院从1991年2月至1995年10月共行35例嗜铬细胞瘤切除术,均安全渡过手术关并痊愈出院,现将术中配合的方     

散发性嗜铬细胞瘤患者RET原癌基因突变检测

目的在嗜铬细胞瘤散发患者中进行RET原癌基因突变筛查。方法收集42例病理诊断确诊为嗜铬细胞瘤的患者基因组DNA，其中12例为外周血基因组DNA，30例为嗜铬细胞瘤病理切片组织中提取的基因组DNA。对RET原癌基因第10和第11外显子，采用DNA测序技术进行基因突变筛查。结果在42例中，2例在RET基因的第11外显子存在基因突变。1例634位密码子由TGC突变为TAC，另1例632位密码子由GAG突变为AAG。结论在嗜铬细胞瘤患者中存在RET原癌基因突变携带者，有必要对散发的嗜铬细胞瘤患者进行RET原癌基因的常规突变筛查。