Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings

Hereditary leiomyomatosis and renal cell cancer is a rare genetic disorder characterized by cutaneous and uterine leiomyomatosis, and an aggressive type 2 papillary renal cell carcinoma. The disease is caused by a germline mutation in the fumarate hydratase gene. We report a familial hereditary leiomyomatosis and renal cell cancer in two siblings. A 34‐year‐old woman underwent nephrectomy for treatment of a renal cell carcinoma. The patient's sister had been diagnosed with renal cell carcinoma at 28 years‐of‐age and died of the disease. Neither sister had apparent skin tumors. Histopathology of the renal cell carcinomas of the siblings showed tubulocystic and papillary architectures with high nuclear grades. Immunostaining showed no fumarate hydratase expression in either tumor. Genomic DNA sequencing of the patient showed a germline mutation in the fumarate hydratase gene (c.675delT). Although there is no epidemiological information on Asian hereditary leiomyomatosis and renal cell cancer, physicians should be aware that typical cutaneous leiomyomatosis might not always be present in patients with hereditary leiomyomatosis and renal cell cancer.     

反复经颅磁刺激安全性的实验研究

目的通过观察重复经颅磁刺激(rTMS)在动物实验中的作用效果,探讨rTMS的安全性。方法选用健康成年Wistar大鼠36只,雌雄各半,体重250～300g,以随机数字表法分为3组,每组12只,分别为正常对照组(NC)、低频磁刺激组(TMS1)和高频磁刺激组(TMS2)。行重复低频经颅磁刺激和重复高频经颅磁刺激后,对接受不同的刺激频率和刺激量组经颅磁刺激大鼠的行为、组织病理形态学、血清髓鞘碱性蛋白(MBP)及神经元特异性烯醇化酶(NSE)含量进行观察。结果TMS1组和TMS2组血清MBP含量分别为(8.22±2.92),(7.31±2.02)μg/L,与NC组比较差异无显著性意义(P>0.05);TMS1组和TMS2组血清NSE含量分别为(0.68±0.09),(0.69±0.13)μg/L,与NC组比较差异无显著性意义(P>0.05)。TMS1组和TMS2组在刺激过程中均未出现异常活动,无肢体强直、阵挛等,脑组织形态学包括大体观察、普通光镜及电镜改变不明显。结论在一定强度和频率内重复经颅磁刺激是比较安全的。     

Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe the case of a 53‐year‐old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9–1 G>C ( NM_000143.3 :c 1391–1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of HLRCC in the absence of a family or personal history of cancer and despite initial genetic testing being negative.     

Next generation immunohistochemistry: Emerging substitutes to genetic testing?

The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes. Specifically, we focus on Carney complex, familial adenomatous polyposis (FAP)-associated cribriform-morular variant of papillary thyroid carcinoma, familial succinate dehydrogenase-related pheochromocytoma/paraganglioma syndromes, hereditary leiomyomatosis and renal cell cancer (HLRCC), medullary thyroid cancer and Multiple Endocrine Neoplasia 2 (MEN2), BAP1 hereditary cancer predisposition syndrome, Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT), and Pancreatic Neuroendocrine Tumor Syndrome (Mahvash disease).     

Correlation of neuron specific enolase serum concentration and prognosis hi patients with severe head injury

AIM: To eluciate the role of neuron specific enolase(NSE) in predicting prognosis after severe head injury. METHODS: 30 patients with severe head injury were involved into this study, ranging from 26 to 64 years old. Concentration of NSE in serum was measured in all cases within 12 hours after head injury. And prognosis of all patients were evaluated by COS. RESULTS: The concentration of NSE in serum of both groups, with good or poor outcome, were higher than normal group. The concentrations within 12 hours after head injuries had a close relationship with the prognosis. As a serum marker to assess the prognosis, NSE had high positive prediction ratio. CONCLUSION: The finding suggested that NSE may be a promising predictor for assessing the prognosis after severe head injury.     

多种肿瘤标记物检测在肺癌诊断中的意义

【目的】探讨多种肿瘤标记物检测在肺癌诊断中的应用价值。【方法】本院接受治疗的50例肺癌患者为观察对象,同时选取48例肺良性病变者（肺良性病变组）以及42例健康体检者作为对照。观察三组对象血清肿瘤标志物癌胚抗原（CEA）、糖蛋白抗原 CA19‐9（ CA19‐9）、CA125和神经元特异性烯醇化酶（NSE）水平的差异及不同临床特征肺癌患者肿瘤标志物水平的差异。【结果】三组 CEA 、CA19‐9,CA125,NSE 等肿瘤标志物水平由高到低分别为肺癌组、肺良性病变组和健康对照组,且各组之间相比较差异具有显著性（P ＜0．01）;分化程度低、肿瘤直径≥5 cm 、有远处转移的肺癌患者其 CEA 、CA19‐9、CA125和 NSE 水平较高（P ＜0．05）,而不同年龄、性别的肺癌患者上述指标相比较差异无显著性（P ＞0．05）。【结论】患者血清 CEA 、CA19‐9,CA125,NSE 水平与肺癌的分化程度、转移情况密切相关,其检测结果有利于肺癌的早期发现和治疗,具有较好的应用价值。     

肺癌患者胸水和血清中细胞角蛋白19片段、神经元特异性烯醇化酶和肿瘤相关抗原72-4测定的临床价值

目的探讨胸水和血清中细胞角蛋白19片段(CYFRA21-1)、神经元特异性烯醇化酶(NSE)和肿瘤相关抗原(CA)72-4测定对肺癌的诊断和鉴别诊断价值。方法采用电化学发光法测定61例肺癌、33例良性疾病患者胸水和血清中CYFRA21-1、NSE和CA72-4水平。结果癌性胸水中CYFRA21-1、NSE和CA72-4水平分别为(73.1±42.9)μg/L、(34.3±25.7)μg/L和(21.6±13.2)μg/L,显著高于癌性血清组(P<0.01)和良性胸水组(P<0.01),良性胸水中CYFRA21-1、NSE和CA72-4水平与良性血清组差异无统计学意义(P>0.05);癌性胸水中CYFRA21-1对肺鳞癌敏感,NSE对小细胞肺癌敏感,CA72-4对肺腺癌敏感。结论联合检测CYFRA21-1、NSE和CA72-4三种肿瘤标志物对诊断和鉴别诊断良、恶性胸水有重要临床价值。     

老年急性脑梗死患者血浆神经元特异性烯醇酶内皮素降钙素基因相关肽的变化

目的探讨老年急性脑梗死患者血清神经元特异性烯醇酶（NSE）、内皮素（ET）和降钙素基因相关肽（CGRP）含量动态变化的临床意义。方法临床确诊的老年急性脑梗死患者120例，测量并计算其脑梗死面积，采集发病后不同时间的静脉血，采用放射免疫技术测定血浆中NSE、ET和CGRP水平，与各60例同年龄组腔隙性脑梗死患者、高血压患者、脑动脉硬化症患者对照，观察其动态变化。结果老年急性脑梗死患者早期血清NSE和ET含量较老年脑动脉硬化症患者、老年高血压患者及老年腔隙性脑梗死患者明显升高（分别为P〈0．01、P〈0．01及P〈0．05），且随时间延长，二者含量均逐渐降低，NSE水平2d时达高峰，14d时基本恢复，而ET水平则始终高于脑动脉硬化症患者及高血压患者，且梗死面积越大，二者的水平越高，老年腔隙性脑梗死患者及老年高血压患者ET的水平亦明显高于老年脑动脉硬化症患者（P〈0．01）；不同时间老年急性脑梗死患者及老年腔隙性脑梗死患者血浆CGRP的水平均明显低于脑动脉硬化症患者及高血压病患者（P〈0．01），但随时间的延长逐渐升高，且梗死面积越大CGRP的水平则越低。结论NSE、ET和CGRP与老年急性脑梗死的发生、发展密切相关；NSE的监测为脑梗死的早期诊断提供了可能。     

血清NSE、SF、LDH、CRP检测对儿童神经母细胞瘤疗效及预后的评估的价值

【目的】探讨血清肿瘤标记物与C‐反应蛋白（CRP）等对儿童神经母细胞瘤（NB）疗效评价及预后评估的价值。【方法】对80例确诊为NB患儿的临床资料进行回顾性分析,对比治疗前后,肿瘤进展或复发前后血清神经元特异性烯醇化酶（NSE）、血清铁蛋白（SF）、乳酸脱氢酶（LDH）及CRP水平的变化;比较初诊时早期与晚期NB ,以及不同原发部位的 NB患儿血清 NSE、SF、LDH 及CRP水平的差异;分析血清 NSE与SF、LDH、CRP水平的相关性。【结果】治疗有效后血清NSE、SF、LDH及CRP水平显著降低（ P ＜0．001）;病情进展或复发后血清NSE、SF、LDH及CRP水平明显上升（ P ＜0．05）;晚期NB血清NSE、SF、CRP水平明显高于早期（ P ＜0．05）,晚期NB血清LDH高于早期,但无统计学意义（ P ＞0．05）;腹部NB血清NSE、SF、LDH、CRP水平明显高于其他部位 NB（ P ＜0．05）。初诊时血清 NSE＞100μg／L 提示预后不良（ P ＜0．05）。血清NSE与SF（ r＝0．765,P＜0．05）、LDH（ r＝0．472,P＜0．001）、CRP（ r＝0．38,P＜0．001）均呈正相关。【结论】血清NSE对NB的病情监测、疗效评价及预后评估有一定的临床价值。