1.A Curious Case of Primary Gastric Mucosal Melanoma
Zahabia SOHAIL ; Mirza Rameez SAMAR ; Neelam Jawed QURESHI ; Sidra ARSHAD ; Adeeba ZAKI
The Korean Journal of Gastroenterology 2024;83(1):33-36
Malignant melanoma is a neoplasm of melanin-producing cells predominantly of cutaneous origin, which uncommonly develops within gut mucosa. We present the case of a 58-year-old woman with complaints of abdominal pain, loss of appetite and weight.Esophagogastroduodenoscopy revealed a gastric mass and systemic imaging demonstrated widespread nodal and bilateral adrenal gland involvement. Histopathology of the gastric mass confirmed primary malignant mucosal melanoma of the stomach. The patient received three cycles of Nivolumab but did not respond, and thus, was then offered best supportive care. Although infrequent, mucosal melanoma can arise from the gastrointestinal tract, and in contrast to the cutaneous form, advanced disease usually has a dismal prognosis and responds poorly to immune checkpoint inhibitors. Primary gastric melanoma is an aggressive disease that is diagnosed by exclusion after the differential diagnosis of metastasis from a cutaneous or unknown primary site has been conducted. If available, patients with treatment-naïve mucosal melanoma should be considered for enrollment in clinical trials.
2. Genetic association study of P2x7 A1513C (rs 3751143) polymorphism and susceptibility to pulmonary tuberculosis: A meta-analysis based on the findings of 11 case–control studies
Eyad M.A. ALSHAMMARI ; Saif KHAN ; Raju K. MANDAL ; Mohd WAHID ; Sajad A. DAR ; Arshad JAWED ; Mohammed Y. AREESHI ; Shafiul HAQUE ; Sajad A. DAR ; Md. Ekhlaque Ahmed KHAN ; Aditya K. PANDA
Asian Pacific Journal of Tropical Medicine 2016;9(12):1150-1157
Objective To summarize the precise association between pulmonary tuberculosis (PTB) and P2x7 A1513C gene polymorphism. Methods PubMed and Google Scholar web-databases were searched for the studies reporting the association of P2x7 A1513C polymorphism and PTB risk. A meta-analysis was performed for the selected case–control studies and pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for all the genetic models. Results Eleven studies comprising 2 678 controls and 2 113 PTB cases were included in this meta-analysis. We observed overall no significant risk in all the five genetic models. When stratified population by the ethnicity, Caucasian population failed to show any risk of PTB in all the genetics models. In Asian ethnicity, variant allele (C vs. A: P = 0.001; OR = 1.375, 95% CI = 1.159–1.632) and heterozygous genotype (AC vs. AA: P = 0.001; OR = 1.570, 95% CI = 1.269–1.944) demonstrated significant increased risk of PTB. Likewise, recessive genetic model (CC + AC vs. AA: P = 0.001; OR = 1.540, 95% CI = 1.255–1.890) also demonstrated increased risk of PTB in Asians. Conclusions Our meta-analysis did not suggest the association of P2x7 A1513C polymorphism with PTB risk in overall or separately in Caucasian population. However, it plays a significant risk factor for predisposing PTB in Asians. Future larger sample and expression studies are needed to validate this association.