1.Study of EGFR Gene Mutation Detection in Non-Small Cell Lung Cancer
Mergen D ; ; Tamir B ; Dolgorsuren P ; Ganzorig B ; Undarmaa T ; Enkhjargal B ; Adilsaikhan M
Mongolian Journal of Health Sciences 2025;90(6):105-111
Background:
Lung cancer remains the leading cause of cancer-related mortality worldwide, accounting for approximately
1.8 million deaths annually and representing 18% of all cancer deaths¹. According to the GLOBOCAN 2024 report, 2.4
million new cases were registered globally, ranking second after breast cancer². Non-small cell lung cancer (NSCLC) constitutes
85% of lung cancer cases, with adenocarcinoma being the most common subtype³. The objective of this study is
to map the prevalence of HER2 activation and mutations in EGFR, EML4-ALK, ROS1, BRAF, and KRAS genes among
lung cancer patients in Mongolia, and to evaluate their correlations with clinical and morphological parameters (age, sex,
smoking status, stage, and morphology).
Aim:
To determine the distribution pattern of HER2 activation and EGFR, EML-ALK, ROS1, BRAF, KRAS gene mutations
among patients with lung cancer in Mongolia, and to evaluate their associations with clinical and morphological
characteristics.
Materials and Methods:
A retrospective study was conducted using archived materials from lung cancer patients at the
Clinical Pathology, Molecular Genetics, and Pathology Laboratories of the National Cancer Center of Mongolia, covering
the period from 2019 to June 2025.
DNA Extraction from Tumor Tissue: Formalin-fixed paraffin-embedded (FFPE) tissue blocks from patients diagnosed
with lung cancer, stored in the pathology department archives, were selected for the study. Sections of 5–10 μm thickness
were cut, mounted on glass slides, stained with hematoxylin and eosin (H&E), and reviewed by a pathologist. Areas containing
≥20–30% tumor cells were identified and macro-dissected for analysis.
Real-Time PCR Assay for Detection of EGFR/BRAF/KRAS/EML4-ALK/ROS1 Mutations: EGFR mutation detection
was performed using the PANAMutyper™ EGFR Mutation Detection Kit (Panagene, Daejeon, South Korea) according
to the manufacturer’s instructions. PCR reactions were carried out on a compatible instrument (Roche LightCycler 480,
Germany) as recommended by the manufacturer. Statistical analysis was performed using Prisma-10 software.
Results:
A total of 282 lung cancer cases were included in the study. EGFR mutations were detected in 44% of cases and
were absent in 56%. No significant age-related differences were observed (p=0.2636); however, EGFR mutations were
significantly more frequent in females (36.6% vs. 19.6%, p=0.0019). No statistically significant differences were found
across disease stage, T, N, or M classifications (p>0.05). No association was identified between smoking status and EGFR
mutations (p=0.4178). Morphologically, EGFR mutations were significantly more prevalent in adenocarcinoma (54.83%)
compared to squamous cell carcinoma (SCC) (31.8%; p=0.002).
Of the 282 cases, adenocarcinoma accounted for 155 (54.9%) and SCC for 116 (41.1%). Overall, EGFR mutations were
positive in 43.97% of cases, with a higher prevalence in adenocarcinoma (24.82%) than in SCC (13.1%). By exon:
- Exon 18 mutations were detected in 6% of cases, predominantly in adenocarcinoma (6%, 4.25%).
- Exon 19 mutations occurred in 8.15% and are associated with sensitivity to targeted therapy.
- Exon 20 mutations were found in 3.19%, with the T790M resistance variant in 1.77%.
- Exon 21 mutations were observed in 9.57%, more common in adenocarcinoma (9.57%) than in SCC (3.19%).
Survival analysis stratified by stage at diagnosis showed significantly longer median survival in early-stage patients (18.6
months). Kaplan-Meier curve comparison, log-rank test, and hazard ratio calculations confirmed statistically significant
differences (p < 0.05), indicating that disease stage is a key prognostic factor.
Conclusion
The study findings reveal a high prevalence of EGFR mutations among Mongolian patients with lung adenocarcinoma,
underscoring the need for widespread implementation of targeted therapy (EGFR-TKIs). In contrast, mutation
rates were lower in SCC and other morphological subtypes, highlighting the importance of investigating alternative
molecular markers in these subgroups.
2.HER2 expression in patients with gastric cancer and Its clinical significance
Oyunchimeg N ; ; Undrakh O ; Naranzul S ; Dolgorsuren P ; Undarmaa T ; Gerelee Kh ; Adilsaikhan M ; Enkhjargal B
Mongolian Journal of Health Sciences 2025;90(6):112-119
Background:
Globally, gastric cancer accounts for 1,089,000 new cases and 769,000 deaths annually, ranking fifth in
overall cancer incidence and third in cancer-related mortality. The aim to determine HER2 expression in patients with
gastric cancer and to evaluate its correlation with clinical and immunological biomarkers, as well as the need for further
laboratory diagnostics.
Aim:
To determine HER2 expression in patients with gastric cancer and to evaluate its association with clinical and immunological
biomarkers, as well as the potential need for further laboratory diagnostics.
Materials and Methods:
A retrospective study was conducted using archived materials from patients with gastric cancer
at the Clinical Pathology, Molecular Genetics, and Pathology Laboratories of the National Cancer Center of Mongolia,
covering the period from 2019 to June 2025. HER2 protein expression in tumor tissue was assessed using immunohistochemistry
(IHC), and chromogenic in situ hybridization (CISH-HER2) was employed to confirm gene amplification.
Statistical analysis was performed using the Prisma-10 software.
Results:
In our study, among 210 cases of gastric cancer evaluated by IHC for HER2, 46 (21.9%) were HER2-positive
and 164 (78.1%) were HER2-negative. When comparing patients with gastric cancer stratified into HER2 1+ (negative)
and HER2 3+ (positive) groups, no statistically significant differences (p < 0.05) were observed in age, sex, tumor location
(surgically resected tissue), morphology, or disease stage. However, a higher proportion of males was noted in the HER2
3+ group (80.9%), though this did not reach statistical significance (p = 0.0879). Significant associations were found with
tumor markers. Elevated serum CA-72-4 (>5 ng/mL) was more frequent in the HER2 3+ group (58.8%; p = 0.0069). In
contrast, elevated CA-19-9 (>35 U/mL) was more common in the HER2 1+ group (93.5%; p = 0.0117), and elevated
CEA (>6.9 U/mL) was also predominant in the HER2 1+ group (90.6%; p = 0.002). These findings suggest that HER2 3+
status predominates in cases with elevated CA-72-4, which may influence diagnostic strategies and HER2-targeted therapies
(e.g., trastuzumab). Conversely, elevated CA-19-9 and CEA were more associated with HER2 1+ status, indicating
a need for further detailed investigation of these markers in relation to HER2 expression. In patients evaluated by CISH
for HER2 expression, stratification into HER2-positive and HER2-negative groups revealed no statistically significant
differences (p < 0.05) in age, sex, tumor location, morphology, stage, or serum tumor markers (CA-72-4, CA-19-9, CEA).
This suggests that HER2 status (positive/negative) may be independent of these variables. Although HER2 positivity was
higher in poorly differentiated tumors (48% vs. 30.6% negative; p=0.1414) and in stage IV disease (50% vs. 39.3% negative;
p=0.2607), these differences were not statistically significant. Elevated serum markers (CA-72-4, CA-19-9, CEA)
were observed but showed no significant correlation with HER2 status.
Conclusion
Determining the molecular profile of gastric cancer patients can significantly contribute to refining clinical
diagnosis, developing treatment strategies, enhancing therapeutic outcomes, and improving patients’ quality of life.
3.The research review study result of craniometrical parameters of facial bone during fetal development
Enebish S ; Zoljargal P ; Batmunkh G ; Nomiungerel R ; Baasansuren S ; Dorjjagdag G ; Handin G ; Dolgorsuren A ; Erdenezaya O ; Nyamsurendejid D ; Juramt B ; Purevsuren Kh
Diagnosis 2024;109(2):15-21
Background:
Studying the human embryonic and fetal organ systems development patterns and determining their quantitative indicators is of scientific and practical importance in medicine and health in every nation.
Distortions and pathologies during the development of the embryo are the causes of congenital disabilities. Among the congenital malformations, facial malformations are the 3rd place, including cleft lip and palate in 70% and Srouzon's syndrome in 30%. In addition, abnormalities due to changes in the size, shape, and position of the jaw are also mentioned in the 2021.04.21 issue of Morphology magazine in the study "Morphometric parameters of the bones of the skull and face during the development of newborns and fetuses". In our country, Ariuntuul G (2005) determined that cleft lip and cleft palate occur at 0.76/1000 or 1 in 1314 live births, while Ayanga G (2012) found that it occurs at 1 in 1072 live births or 0.93/1000. Moreover, the eye cup dimensions of Mongolian fetuses aged 16 36 weeks have a positive linear relationship with the gestational age determined using ultrasound by Nandintsetseg B (2015) et al. Compared with the other countries, the eyecup is slightly wider, and the outer edge distance is similar, whereas the inner edge distance is shorter.
Purpose:
To summarize research work and determine the embryonic development of bones involved in the formation of the face and facial parts, the period of bone formation, the point of ossification, and the period of formation.
Methods:
During fetal development, human organ systems grow and develop at different rates but in a particular relationship. This feature of growth and development is also clearly observed in the structure of the head and facial bones, and the results of researchers who have studied this aspect are selected in the articles.
Results:
Embryonic and fetal development of bone are clinically significant not only from the point of view of its morphogenesis but also from the point of view of congenital disabilities.
Conclusion
In the analysis of the sources, most of the works on the prenatal period of the development of the same body have studied the development of specific structures of the face and facial area, such as the palatine bones and nasal bones, or have generally covered the development of particular systems in the embryo and fetus, and face, there are relatively few works that show the entire dynamics of growth and development of facial bones.
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