SDHB基因错义突变致心脏副神经节瘤一例

患者青年女性。以阵发性心悸、多汗、头痛、血压升高为表现,检测儿茶酚胺及代谢产物甲氧基肾上腺素类（MNs）水平增高,基因检测为琥珀酸脱氢酶亚基B（SDHB）错义突变,影像学检查发现由冠状动脉左回旋支供血的纵隔肿瘤（40 mm×38 mm）,经充分药物准备后在体外循环下行肿瘤手术切除,术后病理确诊为心脏副神经节瘤。患者术后...     

SDHB基因错义突变致心脏副神经节瘤一例

患者青年女性。以阵发性心悸、多汗、头痛、血压升高为表现,检测儿茶酚胺及代谢产物甲氧基肾上腺素类(MNs)水平增高,基因检测为琥珀酸脱氢酶亚基B(SDHB)错义突变,影像学检查发现由冠状动脉左回旋支供血的纵隔肿瘤(40 mm×38 mm),经充分药物准备后在体外循环下行肿瘤手术切除,术后病理确诊为心脏副神经节瘤。患者术后3个月随诊复查血压、MNs正常,并对其家系进行了研究追随。     

腹膜后副神经节瘤1例

腹膜后副神经节瘤１例梁启廉吴江广东医学院附属医院肿瘤科广东省湛江市５２４００１主题词腹膜后肿瘤副神经节瘤中国图书资料分类号Ｒ７３５４病例报告男，５７岁．因上腹部持续胀痛１个月于１９９６－０５－３０入院．查体：Ｔ３７℃，Ｐ８５次／ｍｉｎ，Ｒ１９次...     

肾上腺副神经节瘤引起顽固性腹泻1例

1例顽固性腹泻患者,经影像学初步诊断,病理组织学确诊为肾上腺副神经节瘤,为一罕见病例．     

分泌促肾上腺皮质激素的纵隔副神经节瘤一例

异位促肾上腺皮质激素(ACTH)综合征和副神经节瘤均为少见疾病,而分泌ACTH的纵隔副神经节瘤更是罕见。本病例即是异位ACTH综合征合并副神经节瘤患者,行地塞米松抑制试验时出现皮质醇的反向升高,经治疗后目前恢复良好。     

肾上腺外副神经节瘤诊断治疗现状

1908年Alezai’s和Peyron首先报道了一组副神经节瘤病，1912年，Pick建议将肾上腺内嗜铬细胞瘤命名嗜铬细胞瘤，而肾上腺外嗜铬性肿瘤称副神经节瘤。传统认为副神经节瘤仅占全部嗜铬细胞瘤的10％-15％，近年来国内报道有上升的趋势，多数报道在20％左右。     

颅内副神经节瘤一例并文献复习

正副神经节瘤是发生在副神经节上的肿瘤,是源于肾上腺外的良性神经内分泌肿瘤。颅内副神经节瘤的发生率很低。检索文献可知,截止到2010年4月,国外仅有14例报道[1]。发生部位分别有鞍区7例(鞍上并鞍内3例,鞍内3例,鞍旁1例),左侧小脑半球2例,海绵窦、颅底伴有骨质破坏、外侧裂、左侧后颅窝、桥小脑角各1例。国内报道[2-4]有4例,3例发生于蝶鞍内及蝶鞍周围,另外1例位于小脑幕下。中枢神     

腹膜后副神经节瘤合并恶性心律失常二例

该文报道腹膜后副神经节瘤合并恶性心律失常2例,分析其临床特点及诊治经过,结合文献,探讨嗜铬细胞瘤/副神经节瘤的典型或不典型临床表现。提高临床医生对本病的认识,做到早发现、早诊断、早治疗,减少临床误诊和漏诊。     

罕见的CYP17A1基因外显子剪接突变导致17α-羟化酶缺陷的分子病因学研究

目的 对一例46XY性发育异常的患者进行CYP17A1致病基因分析,并探讨新的突变对患者表型的影响.方法 对患者及其父母的CYP17A1基因的8个外显子进行PCR扩增,扩增产物直接测序.将野生型和含有新突变位点的突变型PCR片段连入表达载体,构建Mini-gene系统,转染HEK-293T细胞,RT-PCR观察新突变位点对剪切的影响.进一步构建野生型和剪切异常的CYP17A1 cDNA全长表达质粒,转染HEK-293T细胞,体外检测CYP17A1酶活性.结果 基因分析显示患者的CYP17A1基因为复合杂合突变,其中一个等位基因为外显子6中c.985_987delinsAA突变,另一等位基因含有新的同义突变(c.1263 G＞A:GCG＞GCA).体外研究表明,这种同义突变会产生新的剪切位点,导致CYP17A1基因mRNA异常剪切,剪切产物中CYP17A1的415位氨基酸残基后缺失6或7个氨基酸.体外转染和酶活性检测证实异常剪切产物使酶活性丧失;但此突变对剪切的影响并不是完全的,在患者体内还应存在部分正常的剪切产物,发挥残余酶活性,与患者的表型相一致.结论 本研究首次报道了由于CYP17A1基因外显子剪切突变导致的17α-羟化酶缺乏的患者,并且启动对异常剪切体的功能研究.     

肾上腺外副神经节瘤一例报道

患者,女,54岁,因“头晕、心悸、阵发性血压升高5年,加剧1年”于2003年12月入院。患者5年前行子宫肌瘤切除术时出现血压急剧升高(具体不详),并伴心悸、全身大汗,术后血压恢复正常。之后几乎每夜大量出汗,当时未测血压。一年后头晕、心悸明显加重,血压在168/100mm Hg(1mm Hg=0.13     

An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years

Paragangliomas (PGLs) are rare tumours arising from parasympathetic-associated paraganglia (particularly of the head and neck) or from sympathetic-associated paraganglia such as in the adrenal medulla when they are termed phaeochromocytomas and at extra-adrenal sites in the abdomen and thorax. Recent reports have found frequent germline mutations of VHL, RET, SDHB or SDHD not only in familial cases but also in apparently sporadic cases of phaeochromocytoma. These germline mutations are particularly likely to be found if multifocal disease is present or if the phaeochromocytoma or PGL occurs at a young age. We report a germline splice site mutation in SDHB in a patient presenting with an incidental, apparently sporadic, abdominal sympathetic PGL at 68 years of age.     

R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma

It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although ¹³¹I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[¹⁸F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.     

散发性嗜铬细胞瘤患者SDHB基因突变筛查

应用PCR扩增102例嗜铬细胞瘤患者抑癌基因SDHB并直接测序,结果显示有3例患者存在基因突变.分别为2号外显子CGA→TGA(R46X)、3号外显子CGA→TGA(Rgox)和7号外显子CGC→CAC(R242H),推测抑癌基因SDHB在散发性嗜铬细胞瘤患者中的突变率约为3%.     

Leiomyosarcoma of the inferior vena cava: a case report

Leiomyosarcoma of the inferior vena cava is an extremely rare tumor that is characterized by a poor prognosis and nonspecific symptoms, a fact that may delay the diagnosis for several years. The only therapeutic modality proven to prolong the survival of patients is total surgical resection of the tumor. In this study, the authors report the case of a 50-year-old patient with a diagnosis of leiomyosarcoma of the inferior vena cava, affecting the middle and distal thirds, who was submitted to surgical treatment.     

Abdominal aortic aneurysm with inferior vena cava obstruction: case report

Beh?et's syndrome, a multisystem disorder, is characterized by recurrent oral and genital aphthous ulcerations, eye lesions, and skin changes. Other manifestations, although rare, may affect the nervous, gastrointestinal, or locomotor system, as well as veins and arteries. Vascular lesions occur in approximately 30% of reported cases. Although thrombosis in the larger veins is frequent, arterial thrombosis is somewhat less likely to occur. Only a few cases of arterial aneurysm have been documented in the literature. This report describes a patient who had suffered from Beh?et's syndrome for fifteen years and in whom a complete obstruction of the inferior vena cava was demonstrated. An aortoiliac bypass was performed successfully, and the patient had had a good clinical recovery at long-term follow-up.     

术中超声诊断右肝癌伴右肝静脉、下腔静脉栓子1例

肝细胞癌(hepatocellular carcinoma,HCC)容易出现肝内血管的癌栓,癌栓累及下腔静脉的较少.一旦出现则情况危急,需要明确诊断,妥善处理.本例患者术前经腹部超声甚至是增强CT均漏诊下腔静脉栓子.术中超声(intraoperative ultrasonography,IOUS)发现并准确定位栓子.该患者进行了两次取栓术,也进行了两次IOUS检查,第一次取栓后进行了IOUS检查,发现仍然残留有栓子.又进行了第二次取栓,IOUS复查见栓子已取干净.IOUS目前在临床中并未广泛开展.IOUS对肝癌中可能出现的小癌栓、一些小的转移灶和血管的栓塞均有很高的敏感性,而这些征象经腹部超声或其他影像学检查可能无法发现.IOUS对下腔静脉癌栓的清除评价具有一定的临床指导价值.IOUS作为一种方便、有效的检查手段,若有条件,在肝脏肿瘤手术中应该更广泛地应用.     

Bilateral inferior venae cava combined with the persistent left superior vena cava and hemiazygos continuation of left inferior vena cava with drainage into right atrium: A case report

The persistent left superior vena cava (PLSVC) is a common venous abnormality. However, malformation of the bilateral inferior venae cava (IVC) is extremely rare, with an incidence rate of .3%. IVC malformation is associated most frequently with heart defects and isomerism and often has a poor prognosis. We presented a case of vascular malformations in the fetus of bilateral caval veins with the interruption of the left-sided venous return with hemiazygos continuation in presence of a right-sided inferior caval vein. Also noted were the PLSVC and a dilated right heart with a widened pulmonary trunk. In this case, there were no heart defects or chromosomal abnormalities, and the newborn postpartum was in a good condition.     

Hepatocellular carcinoma with inferior vena cava and right atrial tumor thrombus: A case report

This is a case report of a 45‐year‐old patient admitted with the symptom of bilateral leg swelling. Ultrasonography revealed a hyperechoic mass in the right lobe of the liver, which invaded the right hepatic vein (RHV) and extended into the inferior vena cava (IVC) and right atrium (RA). Based on the high alpha‐fetoprotein (AFP) level and the ultrasonography findings, the patient was diagnosed as having hepatocellular carcinoma (HCC) with a RHV, IVC, and RA tumor thrombus and secondary Budd–Chiari syndrome (BCS). HCC with a tumor thrombus extending into the IVC and RA has rarely been observed, and as a cause of secondary BCS, this type of HCC has been even more rarely reported.     

A case of Kartagener's syndrome with bilateral superior vena cava and absent inferior vena cava

A 39-year-old man with a history of repeated attacks of acute bronchitis and pneumonia since childhood was admitted complaining of cough, sputum, and a high fever. A diagnosis of Kartagener's syndrome was made because of the presence of mirror-image dextrocardia with complete situs inversus, bronchiectasis in right B6 and B10, and chronic sinusitis. Examination of the ciliary ultrastructure of the bronchial epithelium showed defective inner dynein arms and impaired nasal clearance was suggested by the saccharin particle method. Contrast venography of great veins revealed a McCotter type II bilateral superior vena cava and an absent inferior vena cava with (hemi-) azygos continuation. A search to find a similar case in the literature failed. Abnormal ciliary movement from the embryonic period was implicated as a causative factor in Kartagener's triad and the morphological abnormalities of the great veins.