Analysis of Rb gene in primary acute lymphoid leukemia

Theretinoblastomasusceptibilitygene(Rb)istheprototypeforaclassofgenestheinactivationofwhichappearstobecausallyrelatedtocancer;thesegenesarethereforereferredtoastumorsup-pressorgenes-ItsactivityisrelatedtoDNAsyn-thesisorcellcycleregulation.Structuralandfunc-tionaldefectsintheRbgenehavebeendemon-stratedinanumberofprimarytumorssuchassmallcelllungcancer,breastcancer,bladdercar--cinomaandhematopoieticmalignancies['J.Theseobservationshadpromptedustoinvestigatethestatusofthisgeneinacutelymphoidleuk…     

急性髓系白血病Rb基因的研究

目的：研究Ｒｂ基因异常与急性髓系白血病发病的关系。方法：采用ＤＮＡ印迹杂交和ＰＣＲ技术。结果：在５／１８例原发急性髓系白血病中发现Ｒｂ基因结构异常（２８％），其中２例缺失５．４ｋｂ和出现新片段３．１ｋｂ和２．３ｋｂ。将其中１例用Ｒｂ基因外显子１８，１９，２１，２２，２７五对引物进行分析，未发现异常。结论：Ｒｂ基因异常可能与急性髓系白血病的始发和发展有关。     

急性淋巴细胞白血病Rb基因的分析

应用限制性内切酶片段长度多态性分析了３２例原发急性淋巴细胞白血病Ｒｂ基因的等位基因变化，采用＾３２Ｐ－标记的ＲｂＣｄｎａ３．８ｋｂ探针，结果在８例患者中发现Ｒｂ基因结构异常。其中４例出现新的３．１ｋｂ和２．３ｋｂ片段，选用Ｒｂ基因外显子１８，１９，２１，２２，２７五对引物，对已发现Ｒｂ基因异常的６例患者进行了分析，发现１例在外显子１８和２１无扩增产物。     

p16蛋白在人口腔上皮鳞状细胞癌及异常增生中的相关性研究

目的:研究p16蛋白表达在口腔鳞状细胞癌及口腔黏膜增生中的作用及临床意义。方法:采用免疫组织化学(S-P法),对10例正常口腔黏膜,12例口腔上皮单纯增生,20例异常增生,40例口腔上皮鳞状细胞癌进行p16蛋白的免疫组织化学染色。结果:正常口腔黏膜、口腔上皮单纯增生p16蛋白免疫组化染色均为阳性,口腔上皮异常增生、鳞癌Ⅰ、Ⅱ、Ⅲ级p16蛋白阳性表达率分别为76%、70%、44%和33%。口腔黏膜异常增生、口腔黏膜鳞状细胞癌Ⅰ级p16蛋白阳性表达率显著高于口腔黏膜鳞状细胞癌Ⅱ、Ⅲ级(P<0.05)。结论:p16蛋白表达与组织分化程度相关,可作为判断口腔鳞癌分化程度的一个参数指标。     

E-cadherin基因蛋白在口腔疣状癌中的表达

目的 :研究E 钙粘素 (E cadherin)基因蛋白表达与口腔疣状癌发生发展的相关性。方法 :利用免疫组织化学SP法检测 1 2例口腔疣状癌、2 0例口腔鳞癌组织中的E cadherin基因蛋白表达 ,对比分析其相关性。结果 :口腔疣状癌中的E cadherin基因蛋白阳性表达率为 83.3% ,明显高于口腔低分化鳞癌 (37.5 % ;P <0 .0 5 ) ;其阴性表达率介于高分化鳞癌与低分化鳞癌之间。结论 :E cadherin基因蛋白在口腔疣状癌的发生及临床表型中起重要作用     

E—cadherin基因蛋白在口腔疣状癌中的表达

OBJECTIVE: To determine the relationship between E-cadherin over-expression and progression in oral verrucous carcinoma. METHODS: Immunohistochemistry assay was performed on 12 cases of oral verrucous carcinoma (VC) and 20 cases of oral squamous epithelial cells carcinoma (SCC) using monoclonal antibody against E-cadherin gene protein. RESULTS: The E-cadherin positive expression in VC (83.3%) was significantly higher than that in the poorly differentiated SCC(37.5%; P < 0.05), but the negative expression of E-cadherin in VC was between the well differentiated squamous cell carcinoma and the poorly differentiated squamous cell carcinoma. CONCLUSION: E-cadherin over-expression plays an important role in oral verrucous carcinoma.     

端粒酶逆转录酶与Bcl-2在口腔黏膜癌变过程中的表达及意义

目的：研究口腔黏膜癌前病变癌变过程中人端粒酶逆转录酶（hTERT）和Bcl-2的表达.方法：采用原位杂交和免疫组化方法对口腔黏膜单纯增生（HP）9例,轻度异常增生（LD）11例,中度异常增生（MD）10例,重度异常增生（原位癌CIS）9例,鳞癌（SCC）11例,进行hTERTmRNA及Bcl-2蛋白的检测.结果：hTERT和Bcl-2在口腔黏膜癌前病变和鳞癌中均有异常表达,CIS及SCC组织中hTERT的表达明显高于HP、LD和MD（P＜0.05）;SCC中Bcl-2表达明显高于HP和异常增生组织（P＜0.05）.结论：端粒酶的活化和Bcl-2表达的增强在口腔黏膜癌前病变和鳞癌的发生和发展中起着重要作用,它们的异常表达有助于口腔黏膜癌前病变和鳞癌的早期诊断.     

HPV E6/E7、宫颈液基细胞学、阴道镜联合检查在宫颈癌筛查中的价值分析

目的 探究高危型人乳头瘤病毒（human papilloma virus,HPV）E6/E7、宫颈液基细胞学（thinprep cytologic test,TCT）、阴道镜检查对宫颈癌及癌前病变筛查价值的差异。方法 选取2020年7月至2021年7月义乌市中心医院收治的均进行过HPV E6/E7 m RNA、TCT及阴道镜检查的宫颈异常患者753例,以活检组织病理结果为金标准,分析不同检查方法对宫颈癌及癌前病变的筛查价值。结果 活检组织病理学检测结果显示,753例病例中有低级别鳞状上皮内病变（low-grade squamous intraepithelial lesion,LSIL）532例,高级别鳞状上皮内病变（high-grade squamous intraepithelial lesion,HSIL）203例,鳞状细胞癌（squamous cell carcinoma,SCC）18例;HPV E6/E7检出阳性407例,TCT检出阳性288例,阴道镜检查阳性206例;HPV E6/E7、TCT检查的诊断一致性为62.42%;与联合检测比较,HPV E6/E7、TCT及阴道镜...     

COX-2在口腔白斑、口腔扁平苔藓及口腔鳞状细胞癌中的表达

目的通过观察COX-2在口腔黏膜白斑(OLK)、口腔扁平苔藓(OLP)及口腔鳞状细胞癌(SCC)中的表达情况,探讨其在口腔癌发生过程中的意义。方法用免疫组化方法检测COX-2在51例口腔黏膜白斑(单纯增生15例,伴异常增生36例)、34例口腔扁平苔藓(单纯扁平苔藓19例,伴异常增生15例)、52例口腔鳞状细胞癌、10例正常口腔黏膜中的表达情况。采用图像分析系统计数阳性细胞率。应用统计学方法分析COX-2在不同病变中的表达。结果COX-2在白斑单纯增生组6.7%(1/15)为强阳性表达,白斑异常增生组强阳性的表达率为50%(18/36);在单纯扁平苔藓组15.8%(3/19)为强阳性表达;扁平苔藓异常增生组强阳性的表达率为33.3%(5/15);鳞状细胞癌有7.7%(4/52)呈强阳性表达。COX-2在白斑异常增生组强阳性的表达率显著高于单纯白斑和鳞状细胞癌组(P<0.01),在扁平苔藓异常增生组明显高于单纯扁平苔藓和鳞状细胞癌组(P<0.05)。单纯白斑、扁平苔藓组与鳞癌组相比较,COX-2的表达无明显差异(P>0.05)。结论COX-2在口腔癌变过程中是一个早期事件,可能成为化学预防作用的重要靶点。     

外源性Rb基因转染对头颈肿瘤的抑制作用

目的　探讨外源性 Rb基因对头颈肿瘤的抑制作用。方法　运用携带 Rb基因的复制缺陷型腺病毒转染口腔鳞癌细胞株 0 12 ,观察其体内和体外的抑癌效果。结果　腺病毒表达载体可有效地将外源性 Rb基因转染 0 12细胞并使其表达。体内、体外抑瘤实验表明 :导入 Ad- Rb基因的肿瘤细胞 ,其细胞生长曲线明显受抑制 ,Ad- Rb基因治疗组裸鼠肿瘤生长最为缓慢 ,与 DL312和 PBS对照组比较有显著性差异 (P<0 .0 5 )。结论　腺病毒介导的外源性 Rb基因可有效地转染入口腔鳞癌细胞株 ,并抑制其生长。     

口腔粘膜白斑和鳞状细胞癌中错配修复基因hMLH1、hMSH2的表达

目的：探讨错配修复基因hMLH1、hMSH2在口腔粘膜白斑、口腔鳞状细胞癌中的表达。方法：运用免疫组织化学SP法检测26例正常口腔粘膜、27例口腔粘膜白斑和56例口腔鳞状细胞癌中hMLH1、hMSH2蛋白的表达。结果：正常口腔粘膜、口腔粘膜白斑和口腔鳞状细胞癌中hMLH1蛋白表达的阳性率分别为15.38%（4/26）、48.15%（13/27）和41.07%（23/56）,各组间差异有统计学意义（P〈0.05）;hMSH2蛋白表达的阳性率分别为23.08%（6/26）、55.56%（15/27）和50.00%（28/56）,各组间差异有统计学意义（P〈0.05）。结论：hMLH1、hMSH2表达异常可能与口腔粘膜白斑癌变及口腔鳞状细胞癌的发生发展有关;检测hMLH1、hMSH2蛋白对口腔粘膜白斑的恶变潜能及口腔鳞状细胞癌的诊断具有指导意义。     

Detailed deletion mapping of loss of heterozygosity on 9p13-23 in laryngeal squamous cell carcinoma by microsatellite analysis

Background This study was designed to investigate the hot spots of microsatellite loss of heterozygosity (LOH) on 9p13-23 in laryngeal squamous cell carcinoma and to find out the correlation between the incidence of microsatellite LOH and the clinicopathological parameters.Methods Tumor tissues were obtained from paraffin embedded sections with microdissection. Genomic DNA was extracted from tumor tissues and peripheral blood lymphocytes with the phenol-chloroform. Polymerase chain reaction (PCR) amplification and denaturing gel electrophoresis were carried out in a set of 42 squamous cell carcinoma (SCC) of larynx and corresponding peripheral blood lymphocytes using 13 highly polymorphic microsatellite markers on 9p13-23. The correlation was analyzed between microsatellite LOH at the high frequency on 9p13-23 and clinicopathological parameters in the patients with squamous cell carcinoma of larynx.Results Of the 42 laryngeal cancers, 41 (97.6%) showed LOH in at least one of the microsatellite markers tested on 9p13-23. The most frequently deleted marker was D9S162 in 17 of the 19 (89.5%) informative samples. The marker D9S171, which is located on 9p21, had LOH detected in 12 of the 15 informative cases (80.0%). LOH at the D9S1748 marker (closest to the p16 gene locus) was detected in 18 of the 36 informative cases (50.0%). Allelic deletion mapping revealed two minimal regions of LOH encompassing markers D9S161-D9S171 on 9p21 and IFNA-D9S162 on 9p22-23. Multiple LOH (≥4) on 9p21-23 was found more frequently in the patients under 60 years, with supraglottic SCC or cervical lymph node metastasis than those over 60 years, with glottic SCC or without cervical lymph node metastasis (P&lt;0.01 or 0.01, 0.05, respectively). On the contrary, there was no correlation between T stages or pathologic classification and the frequency of LOH on 9p21-23 in 42 SCC of Larynx.Conclusions These findings imply the presence of at least two putative tumor suppressor genes on 9p13-23 in laryngeal SCC. Multiple genetic alterations are probably implicated in supraglottic SCC with cervical lymph node metastasis in younger patients.     

食管鳞癌组织中p16基因缺失及甲基化检测

目的:探讨食管癌组织中p16基因表达缺失的机制.方法:采用PCR、DHPLC、MSP及免疫组化的方法,检测45例食管鳞癌组织及其相应的间变组织和正常食管上皮组织中p16基因的缺失、突变、甲基化状态及蛋白表达情况.结果:正常食管上皮组织中p16蛋白均为正常表达(45/45,100%),间变和癌组织中异常表达率分别为84.4%(38/45)和91.1%(41/45),3者间异常表达率差异有统计学意义(x2=20.03,P＜0.001).p16蛋白表达异常的41例癌组织中,纯合型甲基化发生率为80.48%(33/41),杂合缺失发生率58.53%(24/41),不缺失发生率41.46%(17/41),均高于p16蛋白表达正常的癌组织.结论:该地区食管癌组织中p16基因主要通过纯合型甲基化失活.     

口腔癌凋亡相关基因bcl-2、bax表达的初步研究

目的 探讨凋亡相关基因bcl－2及bax基因在口腔癌的表达情况。方法 60例口腔癌的组织切片标本。bcl－2单隆抗体,bax多克隆抗体,SP免疫组织化学染法,结果 60例,bcl-2阳性率为68．33％;bax阳性36．67％。颈淋巴结转移组的阳性率为38．71％,低分化组为17．86％,高中分化组与低化组差异有显著性高分化组的bax阳性率为60％,中分化组为41．67％,低分化组为17．86％,高中分化组与低分化组差异有显著性（P＜0．05）。结论 bcl-2和bax在分化较好的早期肿瘤细胞中表达较多,随着分化程度的降低,bcl-2及bax表达率也降低。     

人原发性食管癌组织中多种抑癌基因的研究

应用ＰＣＲ扩增与直接测序技术，分析１０例食管癌和癌旁组织标本中多个抑癌基因ｐ５３、Ｒｂ、ＡＰＣ和ＭＣＣ的突变与丢失。结果：１０例中６例有ｐ５３基因突变；５例有Ｒｂ基因改变；３例有ＡＰＣ改变；３例有ＭＣＣ基因改变；８例食管癌标本中至少有一种抑癌基因有改变；６例至少有两种或多种抑癌基因改变，１例癌旁组织中也有两个抑癌基因改变。结果表明，食管癌癌变与多个抑癌基因变化的累积有关。     

端粒酶逆转录酶基因在口腔癌前病变及鳞癌的表达

目的：观察端粒酶催化蛋白基因（hTRT）在口腔癌前病变及鳞癌中的表达，探讨其与口腔鳞癌（OSCC）发生发展及临床病理特征之间的关系。方法：用原位杂交技术检测54例标本，其中正常口腔粘膜6例、上皮非典型增生15例、口腔粘膜鳞癌33例。结果：正常口腔粘膜组织中hTRT的mRNA表达较弱，阳性信号仅局限于上皮基底层及副基底层间，阳性率16.67％（1/6）；上皮非典型增生中hTRT的mRNA阳性表达见于多层上皮细胞，并随细胞异形性增高而表达增强，阳性率60％（9/15）；口腔粘膜鳞癌组织中hTRT的mRNA有较强阳性表达，阳性率87.88％（29/33）；OSCC组织中hTRTmRNA的表达与肿瘤临床病理分化无关，与淋巴结转移密切相关。结论：端粒酶hTRT基因的表达在OSCC的发生发展和转移过程中起着重要作用。     

胃癌及癌旁组织中p53基因和Rb基因的研究

本文使用Southern杂交方法分析了胃癌组织中p53基因和Rb基因的缺失和重排;使用PCR-RFLP技术分析了p53基因第248位、249位密码子的点突变。研究结果显示:30例胃癌组织中9例有p53基因的缺失或重排;42例胃癌组织中两例有p53基因第248位密码子的点突变;15例胃癌组织中两例有Rb基因的缺失和重排。     

Adenovirus-mediated Rb gene transfect for head and neck cancer]

OBJECTIVE: To evaluate the efficacy of Rb gene therapy in head and neck carcinoma. METHODS: We investigated the adenovirus-mediated Rb (Ad-Rb) gene transfect into human oral squamous cell carcinoma cell line (012) in both in vitro and in vivo models. RESULTS: The cells growth curve for 012 tumor cells transfect with Ad-Rb became lower after two days transfection and declined slightly by six days. Tumor growth in nude mice was also significantly retarded following Ad-Rb injection when compared with controls. Ad-Rb expression was identified by Western blotting in those tumors injected with Ad-Rb. CONCLUSION: These results implicated that the recombinant Rb gene adenovirus vector could efficiently transfect and inhibit oral squmous cell carcinoma. It might be an important candidate for gene therapy in head and neck cancer.     

胶质母细胞瘤中p16、Rb基因表达水平与细胞增殖活性相互关系的研究

目的 探讨胶质母细胞瘤（ｇｌｉｏｂｌａｓｔｏｍａｓ,ＧＢＭｓ）中p１６、Ｒb基因表达水平的异常及其与细胞增殖活笥之间的关系。方法 应用流式细胞仪检测３２例胶质母细胞瘤标本中Ｐ１６、Ｒb基因蛋白表达的相对含量。结果 胶质母细胞瘤中Ｐ１６、Ｒb基因蛋白表达量较正常脑组织降低,二者的异常可使细胞发季过度增殖。结论：Ｐ１６基因和Ｒb基因表达活性降低是胶质母细胞瘤发生发展的重要因素之一。     

Review: Head and neck squamous cell carcinoma in sub-Saharan Africa

Aim

Review the literature from 1990 to 2013 to determine known anatomic sites, risk factors, treatments, and outcomes of head and neck squamous cell carcinoma (HNSCC) in sub-Saharan Africa.

Methods

Using a systematic search strategy, literature pertaining to HNSCC in sub-Saharan Africa was reviewed and patient demographics, anatomic sites, histology, stage, treatment, and outcomes were abstracted. The contributions of human immunodeficiency virus (HIV), human papillomavirus (HPV) and behavioural risk factors to HNSCC in the region were assessed.

Results

Of the 342 papers identified, 46 were utilized for review, including 8611 patients. In sub-Saharan Africa, the oropharyngeal/oral cavity was found to be the most common site, with 7750 cases (90% of all cases). Few papers distinguished oropharyngeal from oral cavity, making identification of possible HPV-associated oropharyngeal squamous cell carcinoma (SCC) difficult. SCC of the nasopharynx, nasal cavity, or paranasal sinuses was identified in 410 patients (4.8% of all cases). Laryngeal SCC was found in 385 patients (4.5% of all cases), and only 66 patients (0.8% of all cases) with hypopharyngeal SCC were identified. In 862 patients with data available, 43% used tobacco and 42% used alcohol, and reported use varied widely and was more common in laryngeal SCC than that of the oropharyngeal/oral cavity. Toombak and kola nut use was reported to be higher in patients with HNSCC. Several papers reported HIV-positive patients with HNSCC, but it was not possible to determine HNSCC prevalence in HIV-positive compared to negative patients. Reports of treatment and outcomes were rare.

Conclusions

The oropharyngeal/oral cavity was by far the most commonly reported site of HNSCC reported in sub-Saharan Africa. The roles of risk factors in HNSCC incidence in sub-Saharan Africa were difficult to delineate from the available studies, but a majority of patients did not use tobacco and alcohol.