RESUMO
The immune system plays a bifaceted role in tumour development through modulation of inflammation. MBL binds to damage-associated molecular patterns and induces inflammation through the activation of complement pathway. Dysregulated inflammation plays a major role in breast cancer pathogenesis, thereby suggesting its contribution towards breast cancer risk. Literature asserts single-nucleotide polymorphisms (SNPs) modulating serum MBL levels. Therefore, studying MBL2 SNPs in breast cancer might provide valuable insight in the disease pathogenesis. The present case-control association study aimed to elucidate the association between MBL2 5' near gene SNPs and breast cancer risk. Breast cancer patients were recruited from Government Medical College, G.N.D. Hospital, Amritsar. The age- and gender-matched genetically unrelated healthy individuals, from adjoining regions, with no history of malignancy up to three generations were recruited as controls. The SNPs of MBL2 from the 5' near gene region with putative functional significance were selected based upon the in silico analysis and literature review. The genotypic, allelic and haplotype frequencies for the studied variants were assessed and compared in the study participants by ARMS-PCR and PCR-RFLP. No difference in allelic, genotypic and haplotype frequencies was reported for rs7096206, rs7084554 and rs11003125 in both the participant groups. rs7084554 (CC) was found to confer risk towards hormone receptor-positive breast cancer. An intermediate LD was observed between rs7084554 and rs11003125. The study reports association between MBL2 variant (rs7084554) and hormone receptor-positive breast cancer risk. Further research in this direction might validate the findings.
RESUMO
Esophageal cancer is the eighth most common cancer worldwide and fourth most common in developing countries. Altered glycosylation pattern of cell membrane molecules along with inflammation is a characteristic attribute of oncogenesis. Galectin-4, a tandem repeat galectin, has shown effect on cancer progression/metastasis in digestive system cancers. This role of galectin-4 can be attributed to variations in LGALS4, gene encoding galectin-4. The present case-control study was designed to analyze four intronic SNPs in LGALS4 with susceptibility toward esophageal cancer.Esophageal cancer cases and age- and gender-matched apparently healthy individuals were recruited for the present study. Genotyping of rs8113319, rs4802886, rs4802887, and rs12610990 was carried out using Sanger sequencing and PCR-RFLP. MedCalc software, SNPStats and SHEsis online platform were used for statistical analysis.Genotypic analyses revealed an overall increased heterozygosity of rs12610990, rs4802886, and rs4802887, and AA genotype of rs8113319 in the study participants. Haplotypic analyses also revealed a predominance of AAAT haplotype in the cases. Moreover, combined presence of wild alleles of rs4802886 and rs4802887 could influence protection toward disease, and combined presence of wild alleles of rs12610990 and rs8113319 could influence disease susceptibility. Furthermore, a strong linkage disequilibrium was also observed between the SNPs. Further studies are underway to validate galectin-4 and its genetic variants as blood-based biomarkers in early disease diagnosis, improving treatment outcome.
RESUMO
Background: The neck is a common site of both primary and secondary malignancies. Many tumors from the head and neck (oral cavity, larynx, and pharynx), lung, and gastrointestinal tract metastasize to cervical lymph nodes. At most times, tumors are diagnosed by morphology, sometimes it is difficult to diagnose an unknown primary presenting as metastatic lymphadenopathy solely on the basis of morphology. Specific histological cell types can be confirmed by the use of immunohistochemistry. Aim: The present study evaluated the utility of cell block over fine-needle aspiration cytology (FNAC) and immunohistochemical expression of CK5/6, CK7, and CK20 in metastatic cervical lymphadenopathy. Methods: This prospective study design was used on a total of 50 cases. FNAC smears and cell blocks were made in all the cases. All the cell blocks were compared with FNAC findings and further subjected to immunohistochemical (IHC) analysis. The necessary statistical analysis was done. Results and Conclusion: Our study showed that the combined use of the cell block technique and FNAC was more useful and sensitive in diagnosing the metastatic cervical lymph nodes and the accuracy can be further improved by the use of IHC on the cell blocks. The combined use of CK5/6, CK7, and CK20 in metastatic cervical lymphadenopathy is helpful in diagnosing squamous cell carcinoma and adenocarcinoma with known/unknown primary sites.
RESUMO
Transitional cell carcinoma of cervix is a rare neoplasm of recent description. A case of primary transitional cell carcinoma of female genital tract i.e. uterine cervix in a 60 year-old postmenopausal female complicated by pyometra is reported.