长期被误诊为甲沟炎的甲下鳞状细胞癌一例

甲下鳞状细胞癌是一种罕见的疾病,常常被延迟诊断或误诊,平均延迟诊断时间为62.4个月,误诊率高达78.9%。本文报道一例误诊为甲沟炎2年的甲下鳞状细胞癌患者。患者,男,49岁。右手第5指外侧缘起皮疹伴疼痛2年。皮损组织病理示高分化鳞状细胞癌。于局麻下行皮肤恶性肿瘤切除术及游离皮瓣移植术。术后恢复良好,随访半年无复发。

误诊为慢性甲沟炎的趾甲下鳞癌1例

患者男,56岁,右拇趾甲下增生物伴疼痛2年。皮肤科情况:右拇趾远端甲板缺失,甲床可见疣状增生物伴局部溃疡。组织病理学检查提示高分化鳞状细胞癌。治疗:局麻下行扩大手术切除,术后恢复良好。患者随访1年未见复发。

甲下鳞状细胞癌误诊为甲下血管球瘤1例

患者女,62岁,右拇指红斑、疼痛2年。皮肤科情况:指甲由中段至远端有一红色的纵裂、畸形,伴远端甲板溶解,无溃疡或渗出,无结痂、疣状外观和局限性角化过度;有压痛,活动无受限。冷敏感试验(+)、Love试验(+)、Hildreth征(+);典型的临床三联征:局部压痛、剧烈疼痛和冷敏感,Love试验(+),高度提示是甲下血管球瘤。术前皮肤镜显示背景呈粉红色,有裂片状出血,直径约为3 mm。手术切除病理提示:大小不一的鳞状上皮团块,少量细胞异型,侵犯真皮。诊断:甲下鳞状细胞癌。

Plasma DNA methylation of Wnt antagonists predicts recurrence of esophageal squamous cell carcinoma

AIM:To detect the effects of plasma DNA methylation of Wnt antagonists/inhibitors on recurrence of esophageal squamous cell carcinoma(ESCC).METHODS:We used methylation-specific polymerase chain reaction to detect hypermethylation of the promoter of four Wnt antagonists/inhibitors(SFRP-1,WIF-1,DKK-3 and RUNX3) using DNA from the plasma of ESCC patients(n = 81) and analyzed the association between promoter hypermethylation of Wnt pathway modulator genes and the two-year recurrence of ESCC.RESULTS:Hypermethylation of SFRP-1,DKK-3 and RUNX-3 was significantly associated with an increased risk of ESCC recurrence(P = 0.001,0.003 and 0.001 for SFRP-1,DKK-3 and RUNX3,respectively).Patients carrying two to three methylated genes had a significantly elevated risk of recurrence compared with those not carrying methylated genes(odds ratio = 15.69,95% confidential interval:2.97-83).The area under the receiver operating characteristic curve(AUC) was 77.1 for ESCC recurrence prediction(sensitivity = 66.67 and specificity = 83.3).When combining methylated genes and the clinical stage,the AUC was 83.69,with a sensitivity of 76.19 and a specificity of 83.3.CONCLUSION:The status of promoter hypermethylation of Wnt antagonists/inhibitors in plasma may serve as a non-invasive prognostic biomarker for ESCC.

Methylation of TIMP3 in esophageal squamous cell carcinoma

AIM: To measure the frequency of DNA methylation of the tissue inhibitor of metalloproteinase 3 (TIMP3) promoter and relate this to any change of gene expression in esophageal squamous cell carcinoma in patients from a region of high incidence in China.METHODS: Cancer cell lines were treated with or without the demethylating reagent 5-aza-2’-deoxycytidine. Methylation of the TIMP3 promoter was assessed in three regions by melt curve analysis and its expression was assessed by real-time RT-PCR. Tumors and proximal resection margins were obtained from 64 patients with esophageal squamous cell carcinoma from a region of high incidence in China. Methylation was assessed by melt curve analysis and expression by immunohistochemistry.RESULTS: Methylation in one of the three promoter regions assessed correlated with gene silencing in esophageal cell lines. A degree of methylation of TIMP3 was found in only four esophageal squamous cell carcinomas, and partial loss of TIMP3 protein expression in just one.CONCLUSION: Methylation and loss of expression of TIMP3 occurs infrequently in esophageal squamous cell carcinoma in a region of high incidence in China.

Study on RIZ1 gene promoter methylation status in human esophageal squamous cell carcinoma

AIM： To investigate the promoter region methylation status of retinoblastoma protein-interacting zinc finger gene 1 （RIZ1） in the human esophageal squamous cell carcinoma （ESCC） cell lines and tissues and verify the relationship between methylation of RIZ1 and oncogen- esis, tumor progression and metastasis etc of ESCC. METHODS： Methylation-specific polymerase chain reac- tion （MSP） was used to investigate the promoter region methylation status of RIZ1 in 6 ESCC cell lines. One cell line where RIZ1 promoter region methylation was de- tected was selected for the next study, where the cell line was treated with 5-aza-CdR. Real-time polymerase chain reaction was used to investigate its influence on the transcription of RIZ1. Experiments using frozenpathological specimens from 47 ESCC patients were performed using the same MSP methodology. RESULTS： Promoter methylation of RIZ1 gene was detected in TEl3, CaEs17 and EC109 cell lines and the cell line TEl3 was chosen for further study. The expression of RIZl mRNA in TE-13 was up-regulated after treatment with 5-aza-CdR. The rate of methyla- tion in carcinomas tissues was significantly higher than those in matched neighboring normal and distal ending normal tissue, and the deviation of data was statisti- cally significant （2,2 = 24.136, P 〈 0.01）. Analysis of the gender, age familial history, tumour deviation, tumour saturation, lymph gland displacement and clinical stag- ing of 47 samples from ESCC patients showed that the fluctuation of data was not statistically significant. CONCLUSION： Promoter methylation may play an im- portant role in the epigenetic silencing of RIZ1 gene expression in human ESCC. RIZ1 is considered to be a potential tumor suppressor gene and may be a biologi- cal parameter for testing early stage human ESCC.

Aberrant methylation of the 3q25 tumor suppressor gene PTX3 in human esophageal squamous cell carcinoma

AIM:To identify the novel methylation-silenced gene pentraxin 3(PTX3) in esophageal squamous cell carcinoma(ESCC).METHODS:PTX3 mRNA expression was examined in six human ESCC cell lines,one human immortalized normal esophageal epithelial cell line,primary ESCC tumor tissue,and paired adjacent nontumor tissue using reverse transcription polymerase chain reaction(RTPCR).Semi-quantitative immunohistochemistry was used to examine cellular localisation and protein levels.Methylation specific PCR and bisulphite genomic sequencing were employed to investigate the methylation of the candidate gene.RESULTS:In the majority of ESCC cell lines,we found that PTX3 expression was down-regulated due to gene promoter hypermethylation,which was further confirmed by bisulphite genomic sequencing.Demethylation treatment with 5-aza-2'-deoxycytidine restored PTX3 mRNA expression in ESCC cell lines.Methylation was more common in tumor tissues(85%) than in adjacent nontumor tissues(25%)(P < 0.01).CONCLUSION:PTX3 is down-regulated through promoter hypermethylation in ESCC,and could potentially serve as a biomarker of ESCC.