Background: Colorectal cancer (CRC) is one of the leading causes of cancer-related morbidity and mortality worldwide and develops through the accumulation of genetic alterations involving multiple genes. In Mongolia, the substantial burden of CRC, limited treatment options, and scarcity of studies investigating its molecular genetic characteristics highlight the need to improve molecular diagnostics and expand personalized treatment options. Aim: To identify genetic variants in tumor tissues from patients with CRC and compare them with variants detected in matched adjacent normal tissues. Materials and Methods: This cross-sectional study was conducted between August 2023 and May 2024 in collaboration with the National Cancer Center of Mongolia, the Mongolian Institute of Human Genetics, and Happy Veritas Hospital. Eleven patients who underwent surgical treatment for CRC at the Department of General Surgery were enrolled. Paired tumor and adjacent normal tissue samples were collected from each patient and analyzed. Targeted next-generation sequencing (NGS) was performed using the MGISEQ-200 platform, covering 2,881 targeted positions across 53 cancer-associated genes. Sequencing data were processed through a bioinformatics pipeline involving quality control, alignment to the reference genome, variant calling, and filtering. BWA-MEM, GATK Mutect2, and Variant Effect Predictor (VEP) were used to identify and annotate genetic variants. Variants were comparatively evaluated according to their occurrence in tumor and adjacent normal tissues, potential functional consequences, and clinical significance. Results: A total of 60 genetic variant observations were identified across 11 paired CRC and adjacent normal tissue samples, including 56 single-nucleotide variants (SNVs; 93.3%) and four insertions or deletions (INDELs; 6.7%). Of these, 36 observations (60.0%) were recorded in tumor tissues and 24 (40.0%) in adjacent normal tissues. Eleven amino acid-altering variants were identified in tumor tissues. Variants in PDGFRA (90.9%), TP53 (54.5%), APC (36.4%), PTEN (27.3%), KIT (18.2%), and KRAS (9.1%) were detected in tumor tissues. The frequencies of variants in PDGFRA, TP53, and PTEN were higher in tumor tissues than in adjacent normal tissues, although the differences were not statistically significant (p > 0.05; FDR ≥ 0.75). Variants detected in APC, KRAS, TP53, PTEN, and MLH1 were associated with molecular pathways involved in colorectal carcinogenesis, including Wnt/β-catenin, MAPK, p53, PI3K–AKT–mTOR, and DNA mismatch repair pathways. The KRAS p.Gly13Asp (G13D) variant was identified as a clinically relevant alteration for evaluating response to anti-EGFR targeted therapy. Conclusion Variants in PDGFRA, TP53, and PTEN were more frequently observed in CRC tissues than in adjacent normal tissues; however, the differences were not statistically significant. Variants in KRAS, KIT, and CDKN2A were detected exclusively in tumor tissues. The KRAS p.Gly13Asp variant may have clinical relevance in evaluating the selection of anti-EGFR targeted therapy.

Background: Studies from other countries have identified multiple contributing factors to renal cell carcinoma (RCC). We conducted this study to investigate the relationship between RCC and certain risk factors among the Mongolian population. Aim: To identify the risk factors for renal cell carcinoma in Mongolian individuals. Material and Methods: This case-control study included 88 patients diagnosed with RCC (confirmed by pathological examination) in the case group. The control group consisted of 88 healthy individuals matched by age and gender. A case-control study design was used. Binary logistic regression analysis was conducted on the questionnaire results from both groups to identify risk factors for RCC through both univariate and multivariate regression analysis. Results: A total of 176 participants were included in the study-88 with RCC and 88 without cancer. Statistically significant associations with RCC were found for hypertension, urinary tract diseases, alcohol consumption, and smoking. Although weight gain appeared to increase the risk for RCC, this was not statistically significant. Conclusion Individuals with hypertension, a history of urinary tract diseases, smokers, and alcohol users are at a higher risk of developing renal cell carcinoma.

Background: Acute appendicitis is an inflammatory disease and acommon cause of acute abdominal pain. The application of the sophisticated automated hematology analyzer more precisely define the morphology changes blood cells. According to this diagnose and treatment control issues are solved by easy and not expensive way. Recent studies haveshown that there is a negative correlation between platelet count (PC) and MPV and that theratio of these two values may be more meaningful. The aim of our study was to investigate thediagnostic value of MPV and the MPV/PC ratio in acute appendicitis. Methods: The patients were divided into two groups based on their histopathological findings: the uncomplicated and complicated appendicitis groups. Leukocyte count, PC, MPV and the MPV/PC ratio were compared all groups. Results: Total of 186 patients, including 119 men, were included in the study. The average age of all patients was 10.21±1.22 years. There was statistically significant difference of some parameters in peripheral blood between the uncomplicated and complicated appendicitis groups in terms of all index. (p<0.001). Leukocyte count had a strong discriminatory property based on the area under curve (AUC) 0.714, (p<0.001). MPV, PC and the MPV/PC ratio had weak discriminatory power with AUC values <0.663. Using receiver operating characteristic (ROC) analysis, the sensitivity and specificity of MPV were 81.56and 45.7%, respectively, and 63.78% and 71.06%, respectively, for the MPV/PC ratio. Conclusions In our study, MPV and the MPV/PC ratio were useful in the diagnosis of acute appendicitis.

Investigation of Klinefelter syndrome among infertility men Background: Klinefelter syndrome (KS) is the most common sex chromosomal anomaly, which is estimated to be 1 in 500-1000 male live births and 2.1-28.4 % among infertility men. Klinefelter syndrome is defined as LD50.30 by International Classification of Diseases 11th Revision. So far, KS syndrome has not investigated among Mongolian infertility men. Materials and methods: We recruited participants who were diagnosed in Center of Infertility, Child and Maternal National Center from October 2017 to October 2019. These participants showed azoospermia and the clinical characteristics of KS. Clinical characteristics of KS were as the anthropometric values, testicle size and also gingival cells were checked by Sanderson method to detect Barr body. Cytogenetically, blood lymphocytes were incubated and evaluated by standard method of G-band using “Metasystem” for karyotyping diagnosis. Results: During the research period, we recruited 1636 male participants with infertility and out of them 145 people were shown the azoospermia and nine people had clinical characteristics of KS. We confirmed the diagnosis of KS in five cases out of these nine patients (3,4%). The mean age of these KS cases was 33.5±4.5. Gynecomastia was presented in 100% (n=5), no underarm hair in 80% (n=4) cases, sparse body hair in 20% (n=1) cases, no facial hair in 100% (n=5) cases, female-like pubertal hair was detected in 80% (n=4) cases. Mean size of testicles was as 4±1.25 ml in left and as 4±0.75 ml in the right. We found that karyotyping pattern of the cases was in 80% 47,ХХУ (n=3) and mosaicism in 20% 48,ХХХУ/47,ХХУ (n=1) and 20% 46,ХХ (n=1), and Barr body was detected in all 100% (n=5) cases. Conclusions: Azoosperm was detected in 8.9% among infertility men in our study. Klinefelter syndrome cases were detected in 3.4% among infertility Mongolian men.