ABSTRACT
Promoter methylation reflects in the inactivation of different genes like O6-methylguanine-DNA methyltransferase DNA repair gene and runt-related transcription factor 3, a known tumor suppressor gene in various cancers such as esophageal cancer. The promoter methylation was evaluated for O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 in CpG, CHH, and CHG context (where H is A, T, or C) by next-generation sequencing. The methylation status was correlated with quantitative messenger RNA expression. In addition, messenger RNA expression was correlated with different risk factors like tobacco, alcohol, betel nut consumption, and smoking habit. CpG methylation of O6-methylguanine-DNA methyltransferase promoter had a positive association in the development of esophageal cancer (p < 0.05), whereas runt-related transcription factor 3 promoter methylation showed no significant association (p = 1.0) to develop esophageal cancer. However, the non-CpG methylation, CHH, and CHG were significantly correlated with O6-methylguanine-DNA methyltransferase (p < 0.05) and runt-related transcription factor 3 (p < 0.05) promoters in the development of esophageal cancer. The number of cytosine converted to thymine (CâT) in O6-methylguanine-DNA methyltransferase promoter showed a significant correlation between cases and controls (p < 0.05), but in runt-related transcription factor 3 no such significant correlation was observed. Besides, messenger RNA expression was found to be significantly correlated with promoter hypermethylation of O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 in the context of CHG and CHH (p < 0.05). The CpG hypermethylation in O6-methylguanine-DNA methyltransferase showed positive (p < 0.05) association, whereas in runt-related transcription factor 3, it showed contrasting negative association (p = 0.23) with their messenger RNA expression. Tobacco, betel nut consumption, and smoking habits were associated with altered messenger RNA expression of O6-methylguanine-DNA methyltransferase (p < 0.05) and betel nut consumption and smoking habits were associated with runt-related transcription factor 3 (p < 0.05). There was no significant association between messenger RNA expression of O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 with alcohol consumption (p = 0.32 and p = 0.15). In conclusion, our results suggest that an aberrant messenger RNA expression may be the outcome of CpG, CHG, and CHH methylation in O6-methylguanine-DNA methyltransferase, whereas outcome of CHG and CHH methylation in runt-related transcription factor 3 promoters along with risk factors such as consumption of tobacco, betel nut, and smoking habits in esophageal cancer from Northeast India.
Subject(s)
Core Binding Factor Alpha 3 Subunit/genetics , DNA Methylation/genetics , DNA Modification Methylases/genetics , DNA Repair Enzymes/genetics , Esophageal Neoplasms/genetics , Tumor Suppressor Proteins/genetics , Adult , Aged , Alcohol Drinking/adverse effects , Areca/adverse effects , Core Binding Factor Alpha 3 Subunit/biosynthesis , CpG Islands/genetics , DNA Modification Methylases/biosynthesis , DNA Repair Enzymes/biosynthesis , Esophageal Neoplasms/pathology , Female , Gene Expression Regulation, Neoplastic/genetics , Guanine/analogs & derivatives , Guanine/metabolism , Humans , Male , Middle Aged , Neoplasm Grading , Promoter Regions, Genetic , RNA, Messenger/genetics , Risk Factors , Smoking/adverse effects , Tumor Suppressor Proteins/biosynthesisABSTRACT
Leiomyosarcomas of vascular origin are rare. They originate from the smooth muscles of tunica media of major blood vessels. The majority of such tumours arising in the extremities affect the femoral vascular bundle. There is limited knowledge and experience of the clinical presentation, pathological reports and results of treatment of this type of tumour. A case of primary leiomyosarcoma of femoral vein is being reported from a subtropical region of India that developed over the right thigh of a 35-year-old male farmer and was clinically diagnosed as benign soft tissue tumour. The diagnosis was confirmed by histopathology and immunohistochemistry.
ABSTRACT
Chromoblastomycosis is a chronic fungal infection of the skin and subcutaneous tissue caused by dematiaceous fungi. We report a case of chromoblastomycosis caused by Fonsecaea pedrosoi from a subtropical region of India that developed over the left foot of a 45-year-old male farmer and was provisionally diagnosed as squamous cell carcinoma. The patient presented with irregular warty growths over the left foot, which had started one year previously, and has gradually progressed over a year to involve the lateral aspect of left leg. The diagnosis of chromoblastomycosis was confirmed by histopathology and fungal culture.
