Association between KRAS and PIK3CA Mutations and Progesterone Resistance in Endometriotic Epithelial Cell Line.

Although endometriosis is a benign disease, it is associated with cancer-related gene mutations, such as KRAS or PIK3CA. Endometriosis is associated with elevated levels of inflammatory factors that cause severe pain. In a previous study, we demonstrated that KRAS or PIK3CA mutations are associated with the activation of cell proliferation, migration, and invasion in a patient-derived immortalized endometriotic cell line, HMOsisEC10. In this study, we investigated the effects of these mutations on progesterone resistance. Since the HMOsisEC10 had suppressed progesterone receptor (PR) expression, we transduced PR-B to HMOsisEc10 cell lines including KRAS mutant and PIK3CA mutant cell lines. We conducted a migration assay, invasion assay, and MTT assay using dienogest and medroxyprogestrone acetate. All cell lines showed progesterone sensitivity with or without mutations. Regarding inflammatory factors, real-time quantitative RT-PCR revealed that the KRAS mutation cell line exhibited no suppression of Cox-2 and mPGES-1 on progesterone treatment, whereas IL-6, MCP-1, VEGF, and CYP19A1 were significantly suppressed by progesterone in both mutated cell lines. Our results suggest that KRAS mutation and PIK3CA mutation in endometriotic cells may not be associated with progesterone resistance in terms of aggressiveness. However, KRAS mutations may be associated with progesterone resistance in the context of pain.

Association of a single nucleotide polymorphism (rs27434) in the ERAP1 gene with plural tissue weight.

Our study was designed to examine the correlation between single nucleotide polymorphism (SNP) in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene, specifically focusing on rs27434, and plural tissue weight. We conducted this investigation using autopsy samples from the Japanese population. Blood samples were collected from 178 Japanese subjects who had undergone autopsies in Shimane Prefecture. Genomic DNA was subsequently extracted from these samples. SNP (rs27434, G＞A substitution) was analyzed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. In the present study, rs27434 exhibited a statistically significant association with brain weight (g) in both female and male individuals. Among males, rs27434 displayed significant relationships with liver weight (g), and body surface area (m2). In females, rs27434 was significantly related to the length of the appendix. Across both genders, individuals with GA and AA genotypes tended to exhibit higher levels in these respective measurements compared to those with the GG genotype. These results suggest that genetic variant of ERAP1 gene may influence the weight of the organs. To the best of our knowledge, this is the first study investigating the interaction between the association of rs27434 in the ERAP1 gene and data routinely measured at autopsy, such as tissue weight. However, conducting further investigations with larger population samples could provide more comprehensive insights to clarify this issue.

Enhancing maize's nitrogen-fixing potential through ZmSBT3, a gene suppressing mucilage secretion.

Maize (Zea mays) requires substantial amounts of nitrogen, posing a challenge for its cultivation. Recent work discovered that some ancient Mexican maize landraces harbored diazotrophic bacteria in mucilage secreted by their aerial roots. To see if this trait is retained in modern maize, we conducted a field study of aerial root mucilage (ARM) in 258 inbred lines. We observed that ARM secretion is common in modern maize, but the amount significantly varies, and only a few lines have retained the nitrogen-fixing traits found in ancient landraces. The mucilage of the high-ARM inbred line HN5-724 had high nitrogen-fixing enzyme activity and abundant diazotrophic bacteria. Our genome-wide association study identified 17 candidate genes associated with ARM across three environments. Knockouts of one candidate gene, the subtilase family gene ZmSBT3, confirmed that it negatively regulates ARM secretion. Notably, the ZmSBT3 knockout lines had increased biomass and total nitrogen accumulation under nitrogen-free culture conditions. High ARM was associated with three ZmSBT3 haplotypes that were gradually lost during maize domestication, being retained in only a few modern inbred lines such as HN5-724. In summary, our results identify ZmSBT3 as a potential tool for enhancing ARM, and thus nitrogen fixation, in maize.

Sentiment analysis in multilingual context: Comparative analysis of machine learning and hybrid deep learning models.

This research paper investigates the efficacy of various machine learning models, including deep learning and hybrid models, for text classification in the English and Bangla languages. The study focuses on sentiment analysis of comments from a popular Bengali e-commerce site, "DARAZ," which comprises both Bangla and translated English reviews. The primary objective of this study is to conduct a comparative analysis of various models, evaluating their efficacy in the domain of sentiment analysis. The research methodology includes implementing seven machine learning models and deep learning models, such as Long Short-Term Memory (LSTM), Bidirectional LSTM (Bi-LSTM), Convolutional 1D (Conv1D), and a combined Conv1D-LSTM. Preprocessing techniques are applied to a modified text set to enhance model accuracy. The major conclusion of the study is that Support Vector Machine (SVM) models exhibit superior performance compared to other models, achieving an accuracy of 82.56% for English text sentiment analysis and 86.43% for Bangla text sentiment analysis using the porter stemming algorithm. Additionally, the Bi-LSTM Based Model demonstrates the best performance among the deep learning models, achieving an accuracy of 78.10% for English text and 83.72% for Bangla text using porter stemming. This study signifies significant progress in natural language processing research, particularly for Bangla, by enhancing improved text classification models and methodologies. The results of this research make a significant contribution to the field of sentiment analysis and offer valuable insights for future research and practical applications.

COVID-19 vaccine barriers and perception among rural adults: a qualitative study in Bangladesh.

OBJECTIVE: The COVID-19 pandemic continues to pose challenges for global public healthcare, even with the authorisation of several vaccines worldwide. To better understand rural communities' knowledge, attitudes, perceptions and barriers towards these vaccines, we conducted a qualitative cross-sectional study with adults in rural Bangladesh. SETTING: This cross-sectional study was conducted in the rural areas of Sylhet and Natore in Bangladesh from August 2021 to February 2022. PARTICIPANTS: Our study involved 15 in-depth interviews with rural adults and 2 key informant interviews with health workers. RESULTS: We analysed data thematically, resulting in four main themes: (1) knowledge and perception aspects, (2) myths and misconceptions, (3) practice and attitude and (4) barriers and challenges of COVID-19 vaccines. CONCLUSIONS: The findings indicate that rural populations lack sufficient knowledge about COVID-19 vaccines but have a more favourable attitude towards them. Misconceptions, beliefs and personal experiences were found to be the main reasons for vaccine avoidance. To address these challenges and dispel the spread of misinformation, health education programmes play a pivotal role in improving vaccine management. Policy-makers should initiate these programmes without delay to create a well-informed and enlightened community, given that the COVID-19 is still spreading.

A call to action: Unpacking the challenges to implementing social sustainability initiatives in a developing country city.

With cities sprawling and populations booming in developing regions, ensuring social sustainability in urban areas has become more urgent. This study investigates the challenges of implementing social sustainability initiatives for cities in developing countries, focusing on Dhaka as a representative city. A mixed-method approach involving structured questionnaire surveys and key informant interviews was used to collect quantitative and qualitative data. The study identified eighteen challenges to implementing social sustainability initiatives in Dhaka city, including a lack of poor urban governance, an inefficient city management system, a lack of political stability, a long delay in the planning approval process, etc. Additionally, experts identified additional challenges that require attention. The study offers empirical evidence to assist government officials, policymakers, and urban planners overcome these challenges and implement social sustainability effectively. To address the identified challenges, the study recommends revisiting the Structure Plan, Urban Area Plan, Detailed Area Plan, and Urban Sector Policy-2011. It highlights the crucial role of community social workers in mitigating specific issues in socially sustainable urban development. Eventually, the study will contribute to the implementation of SDG-11 in the 2030 Agenda for Sustainable Development by bridging the gap between urbanization and socially sustainable cities.

CK-7 negative primary lung adenocarcinoma.

Cytokeratin (CK) 7 is normally expressed in the vast majority of lung adenocarcinoma (ADC). However, on rare occasions, as reported in this paper, CK7 negativity can challenge the diagnosis of pulmonary ADC. Hence, the need to use a combination of 'immunomarkers' such as thyroid transcription factor 1, Napsin A, p40, p63 and CK20.

Histological and Genetic Diversity in Ovarian Mucinous Carcinomas: A Pilot Study.

Tumor heterogeneity remains an ongoing challenge in the field of cancer therapy. Intratumor heterogeneity significantly complicates the diagnosis of cancer and presents challenging clinical problems due to resistance to drug therapy. This study aimed to elucidate the genetic changes histologically (mucinous cystadenoma (MCA), mucinous borderline tumor (MBT), and mucinous ovarian carcinoma (MOC)) in a portion of mucinous ovarian tumors within the same sample. Seven tumor samples obtained from different patients were used to evaluate the genetic mutations in each component. Intratumor genetic heterogeneity was observed in all patients; among them, BRAF (V600E) and p53 (T118I, P142S, T150I, and T170M) point mutations were observed in the MBT component, while KRAS (G12D and G13D) and PIK3CA (E545K) mutations were found in the MOC component. The current findings suggest that diverse genetic alterations occur in mucinous tumors, according to tumor histology. Tumor heterogeneity and genetic diversity in mucinous ovarian tumors might be the cause of treatment failure. Knowledge of intertumor heterogeneity may lead to an increased understanding of the tumor response to treatment.

The Case of an Endometrial Cancer Patient with Breast Cancer Who Has Achieved Long-Term Survival via Letrozole Monotherapy.

Herein, we present the successful treatment of a 92-year-old woman who experienced recurrent EC in the vaginal stump and para-aortic lymph nodes. The patient was first treated with paclitaxel and carboplatin for recurrent EC, which was abandoned after two cycles of chemotherapy because of G4 hematologic toxicity. Later, the patient was treated with letrozole for early-stage breast cancer, which was diagnosed simultaneously with EC recurrence. After four months of hormonal therapy, a partial response was observed not only in the lesions in the breast, but also those in the vaginal stump and para-aortic lymph nodes. She had no recurrence of breast cancer or EC, even after six years of treatment with letrozole-based hormonal therapy. Subsequent whole-exome sequencing using the genomic DNA isolated from the surgical specimen in the uterine tumor identified several genetic variants, including actionable mutations, such as CTNNB1 (p.S37F), PIK3R1 (p.M582Is_10), and TP53 c.375 + 5G>T. These data suggest that the efficacy of letrozole is mediated by blocking the mammalian target of the rapamycin pathway. The findings of this study, substantiated via genetic analysis, suggest the possibility of long-term disease-free survival, even in elderly patients with recurrent EC, which was thought to be difficult to cure completely.

Promising Therapeutic Impact of Immune Checkpoint Inhibitors in Type II Endometrial Cancer Patients with Deficient Mismatch Repair Status.

Type II endometrial cancer (EC) is responsible for most endometrial cancer-related deaths due to its aggressive nature, late-stage detection, and high tolerance to standard therapies. Thus, novel treatment strategies for type II EC are imperative. For patients with mismatch repair-deficient (dMMR) tumors, immunotherapy with immune checkpoint inhibitors represents a promising therapeutic strategy. However, the prevalence of dMMR tumors in type II EC patients remains unclear. In this study, using immunohistochemistry, we evaluated the expression of mismatch repair (MMR) proteins, tumor-infiltrating lymphocytes (CD8+), and immune checkpoint molecules (PD-L1) in 60 patients with type II EC (16, 5, 17, and 22 were endometrioid G3, serous, de-differentiated, and carcinosarcoma cases, respectively) to investigate the therapeutic effect of immune checkpoint inhibitors. Approximately 24 cases (40%) had a loss of MMR protein expression. The positivity rate of CD8+ (p = 0.0072) and PD-L1 (p = 0.0061) expression was significantly associated with the dMMR group. These results suggest immune checkpoint inhibitors (anti-PD-L1/PD-1 antibodies) could effectively treat type II EC with dMMR. The presence of dMMR might be a biomarker for a positive response to PD-1/PD-L1 immunotherapy in type II EC.

What Makes Bangladeshi Pregnant Women More Compliant to Iron-Folic Acid Supplementation: A Nationally Representative Cross-Sectional Survey Result.

BACKGROUND: Iron-Folic Acid Supplementation (IFAS) is an effective strategy to prevent iron deficiency anemia during pregnancy. We aimed to explore the key factors associated with compliance to IFA tablets in Bangladesh. METHODS: This study analyzed the 2017-2018 Bangladesh Demographic and Health Survey data of 3828 pregnant women aged 15-49 years. We categorized compliance into two categories; at least 90 days and full 180 days of consumption. We performed multivariable logistic regression to identify the association between key factors and IFAS compliance. RESULTS: The prevalence of consumption of IFA tablets for at least 90 days was 60.64%, and only 21.72% of women consumed the IFA for the full 180 days. About three-quarters of the women (73.36%) having at least four antenatal care visits (ANC) consumed IFA for at least 90 days, whereas only three in ten women (30.37%) consumed IFA for a minimum of 180 days. For compliance with IFA for at least 90 days, respondent's age of 20-34 years (aOR 1.26, 95% CI 1.03-1.54), respondent's educational qualification of secondary (aOR 1.77, 95% CI 1.16-2.70) or higher (aOR 2.73, 95% CI 1.65-4.53), husband's educational qualification of secondary (aOR 1.33, 95% CI 1.00-1.77) or higher (aOR 1.75, 95% CI 1.22-2.52), and having received at least four antenatal care (ANC) visits from medically skilled providers (aOR 2.53, 95% CI 2.14-3.00) were significantly associated with higher odds of compliance. For compliance with IFA for at least 180 days, respondent's educational qualification of higher (aOR 2.45, 95% CI 1.34-4.48), and having received at least four ANC visits from medically skilled providers (aOR 2.43, 95% CI 1.97-3.00) were significantly associated with higher odds of compliance. Intimate partner violence was negatively associated with compliance with IFA for at least 180 days (aOR 0.62, 95% CI 0.48-0.81). CONCLUSIONS: The full compliance to IFAS is still sub-optimal in Bangladesh. Further precise context-specific intervention strategies must be developed and implemented with fidelity.

Identifying the Carcinogenic Mechanism of Malignant Struma Ovarii Using Whole-Exome Sequencing and DNA Methylation Analysis.

BACKGROUND: Since malignant struma ovarii is a very rare disease, its carcinogenic mechanism has not been elucidated. Here, we sought to identify the genetic lesions that may have led to the carcinogenesis of a rare case of malignant struma ovarii (follicular carcinoma) with peritoneal dissemination. METHODS: DNA was extracted from the paraffin-embedded sections of normal uterine tissues and malignant struma ovarii for genetic analysis. Whole-exome sequencing and DNA methylation analysis were then performed. RESULTS: Germline variants of RECQL4, CNTNAP2, and PRDM2, which are tumor-suppressor genes, were detected by whole-exome sequencing. Somatic uniparental disomy (UPD) was also observed in these three genes. Additionally, the methylation of FRMD6-AS2, SESN3, CYTL1, MIR4429, HIF3A, and ATP1B2, which are associated with tumor growth suppression, was detected by DNA methylation analysis. CONCLUSIONS: Somatic UPD and DNA methylation in tumor suppressor genes may be associated with the pathogenesis of malignant struma ovarii. To our knowledge, this is the first report of whole-exome sequencing and DNA methylation analysis in malignant struma ovarii. Genetic and DNA methylation analysis may help elucidate the mechanism of carcinogenesis in rare diseases and guide treatment decisions.

Development of Novel Foxtail Millet-Based Nutri-Rich Instant Noodles: Chemical and Quality Characteristics.

Noodles are a popular snack mainly produced from wheat flour; however, the low contents of protein, minerals, and lysine are a concern. Therefore, this research developed nutri-rich instant noodles by using foxtail millet (FTM) (Setaria italic) flour to improve the contents of protein and nutrients and increase its commercial importance. FTM flour was mixed with wheat flour (Triticum aestivum) at a ratio of 0:100, 30:60, 40:50, and 50:40, and the samples were named as control, FTM30, FTM40, and FTM50 noodles, respectively. Mushroom (Pleurotus ostreatus) and rice bran (Oryza sativa L.) flour were added at a percentage of 5% to all the composite noodles (FTM30, FTM40, and FTM50 noodles). The contents of biochemicals, minerals, and amino acids, as well as the organoleptic properties of the noodles, were examined and compared with wheat flour as a control. The results revealed that the carbohydrate (CHO) content of FTM50 noodles was significantly lower (p < 0.05) than all the developed and five commercial noodles named A-1, A-2, A-3, A-4, and A-5. Moreover, the FTM noodles had significantly higher levels of protein, fiber, ash, calcium, and phosphorous than the control and commercial noodles. The percentage of lysine calculated protein efficiency ratio (PER), essential amino acid index (EAAI), biological value (BV), and chemical score (CS) of FTM50 noodles were also higher than that of the commercial noodles. The total bacterial count was nil for the FTM50 noodles, and the organoleptic properties were consistent with those of acceptable standards. The results could encourage the application of FTM flours for the development of variety and value-added noodles with enhanced level of nutrients.

Acidophilic microorganisms in remediation of contaminants present in extremely acidic conditions.

Acidophiles are a group of microorganisms that thrive in acidic environments where pH level is far below the neutral value 7.0. They belong to a larger family called extremophiles, which is a group that thrives in various extreme environmental conditions which are normally inhospitable to other organisms. Several human activities such as mining, construction and other industrial processes release highly acidic effluents and wastes into the environment. Those acidic wastes and wastewaters contain different types of pollutants such as heavy metals, radioactive, and organic, whose have adverse effects on human being as well as on other living organisms. To protect the whole ecosystem, those pollutants containing effluents or wastes must be clean properly before releasing into environment. Physicochemical cleanup processes under extremely acidic conditions are not always successful due to high cost and release of toxic byproducts. While in case of biological methods, except acidophiles, no other microorganisms cannot survive in highly acidic conditions. Therefore, acidophiles can be a good choice for remediation of different types of contaminants present in acidic conditions. In this review article, various roles of acidophilic microorganisms responsible for removing heavy metals and radioactive pollutants from acidic environments were discussed. Bioremediation of various acidic organic pollutants by using acidophiles was also studied. Overall, this review could be helpful to extend our knowledge as well as to do further relevant novel studies in the field of acidic pollutants remediation by applying acidophilic microorganisms.

Diversity Analysis of Leaf Nutrient Endophytes and Metabolites in Dioecious Idesia polycarpa Maxim Leaves during Reproductive Stages.

Leaves are essential vegetative organs of plants. Studying the variations in leaf nutrient content and microbial communities of male and female plants at reproductive stages helps us understand allocation and adaptation strategies. This study aimed to determine the nutrient characteristics and microbial differences in the leaves of male and female Idesia polycarpa at reproductive stages. Seven-year-old female and male plants were used as test materials in this experiment. The samples were collected at three stages: flowering (May), fruit matter accumulation (July), and fruit ripening (October). The nitrogen (TN), phosphorus (TP), potassium (TK), carbon (TC), and the pH of the female and male leaves were analyzed. In addition, the leaf microbial diversity and differential metabolites were determined using the Illumina high-throughput sequencing method and the ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method at the reproductive developmental stages. This study found that male and female plant leaves had different TN and TK contents over time but no difference in TC and TP content. The significant differences in bacterial diversity between male and female plants and the richness of the fungi of male plants at the flowering and fruit maturity stages were observed. Proteobacteria, Pseudomonadaceae, Ascomycota, and Aspergillus were the dominant bacteria and fungi in the Idesia polycarpa leaves. The presence of microorganisms differed in the two sexes in different periods. Alphaproteobacteria and Sordariomycetes were the indicator groups for male leaves, and Pseudomonas and Sordariomycetes were the indicator groups for female leaves. Significant differences in phenolic acid were found between male and female leaves. A KEGG enrichment analysis revealed that differential metabolites were enriched in metabolic pathways, amino acid biosynthesis, and the nucleotide metabolism. According to a correlation analysis, leaf TK and TP were strongly correlated with endophytic bacteria abundance and differential metabolite composition. This study revealed the changes in substances and microorganisms in the leaves of male and female plants in their reproductive stages. It provides a theoretical basis for developing and utilizing the leaves of Idesia polycarpa and for field management.

Evaluation of soil and water conservation function in the Wugong mountain meadow based on the comprehensive index method.

Wugong Mountain meadow landscape is well-known both at home and abroad because of its ornamental value. Our study aimed to comprehensively evaluate the function of soil and water conservation at different altitudes of Wugong Mountain meadow soil. The hydro-physical characteristics, including the soil bulk density, porosity, water content, water holding capacity, and permeability of meadow soil at 1600 m-1900 m altitudes, were analyzed. The results showed that the mountain meadow soil's hydro-physiological characteristics and water conservation function significantly differed with altitude. However, the trend of each index did not follow the same law with altitude change. There was a decrease in bulk density of the soil from 1700 m to 1900 m, but a significant increase in porosity and water-holding capacity. Despite the higher porosity and water holding capacity found at 1600 m than at 1700 m and 1800 m, a similar bulk density was found at 1600 m as 1700 m. In addition, the bulk density in the 0-20 cm layer was lower than that in the 20-40 cm layer, while the porosity and water-holding capacity were higher. A higher sequence of soil water conservation capacity was found in soil layers 0-20 cm depth at 1900, 1600, 1800, and 1700 m; in soil layers 20-40 cm depth, it was at 1900, 1800, 1700, and 1600 m. The study found that the sequence of the comprehensive performance of soil water conservation function was at 1900, 1600, 1800, and 1700 m altitudes in the Wugong mountain meadow area. Our comprehensive study of soil water conservation capacity provides a theoretical basis for the rational use of mountain meadow resources in subtropical regions.

Soil Quality Assessment in Tourism-Disturbed Subtropical Mountain Meadow Areas of Wugong Mountain, Central Southeast China.

Meadow soil is a vital ecosystem component and can be influenced by meadow vegetation. Evaluating soil quality in mountain meadows subjected to different levels of tourism disturbance is essential for scientific research, ecological restoration, and sustainable management. This study aimed to evaluate meadow soil quality at different tourism-disturbance levels and attempted to establish a minimum data set (MDS) with compatible indicators for soil quality assessment of subtropical mountain meadows. We analyzed fifteen soil physical, chemical, and biological indicators in control check (CK), light disturbance (LD), medium disturbance (MD), and severe disturbance (SD) meadow areas in Wugong Mountain, west of Jiangxi, China. In addition, a soil quality index (SQI) was determined using the established MDS based on the integrated soil quality index. Average soil permeability, soil pH, available nitrogen (AN), available phosphorus (AP), and number of fungal OTUs were finally introduced into the MDS to evaluate meadow soil quality at different tourism-disturbance levels. The study found that the soil of the Wugong Mountain meadow was acidic, the bulk density was loose, and the nutrient content was rich. Additionally, SQI decreased with increase in tourism-disturbance level. The mean SQI values of the Wugong Mountain meadow areas were: CK, 0.612; LD, 0.493; MD, 0.448; and SD, 0.416. Our results demonstrate that the SQI based on the MDS method could be a valuable tool with which to indicate the soil quality of mountain meadow areas, and the SQI can be regarded as a primary indicator of ecological restoration and sustainable management.

Promising Therapeutic Impact of a Selective Estrogen Receptor Downregulator, Fulvestrant, as Demonstrated In Vitro upon Low-Grade Serous Ovarian Carcinoma Cell Lines.

Few studies have reported hormonal agent use in the treatment of low-grade serous ovarian carcinomas (LGSOCs), which are chemoresistant. Considering the need for novel effective therapies, we investigated the hormone receptor expression and hormonal inhibition efficacy in LGSOCs. Using immunohistochemistry, we assessed the estrogen receptor (ER) expression status in 33 cases of histologically confirmed serous ovarian tumors, including 10, 11, and 12 cases of LGSOCs, serous borderline tumors (SBTs), and serous cystadenomas (SCAs), respectively. The genetic background reported in our previous study was used in the current study. MPSC1 cells, which were established from LGSOCs, were used in cell proliferation assays. We observed a higher ER expression in LGSOCs and SBTs than in SCAs (70%, 81%, and 50%, respectively). Thus, LGSOCs and SBTs exhibit higher ER expression than SCAs. Moreover, the PIK3CA mutation positively correlated with ER expression in LGSOCs (p = 0.0113). MPSC1 cells showed low ER expression on Western blotting. MPSC1 cell proliferation was significantly inhibited by fulvestrant (a selective ER downregulator). The activation of ER and PI3K/AKT signaling pathways may play an important role in LGSOC carcinogenesis. ER downregulation with fulvestrant or combination therapy with PI3K inhibitors is a possible novel treatment for patients with LGSOCs.

Mutation Profiles of Ovarian Seromucinous Borderline Tumors in Japanese Patients.

Ovarian seromucinous tumors (SMBTs) are relatively rare, and their carcinogenesis is largely unknown. In this study, the molecular features of SMBTs in Japan are assessed. DNA was extracted from microdissected paraffin-embedded sections from 23 SMBT cases. Genetic mutations (KRAS, BRAF, PIK3CA, and ERBB2) were evaluated using Sanger sequencing. Immunohistochemistry for p53, ARID1A, and PTEN was also performed as a surrogate for the loss of functional mutations in these tumor suppressor genes. The prevalence of KRAS, BRAF, PIK3CA, and ERBB2 mutations was 4.3% (1/23), 8.6% (2/23), 8.6% (2/23), and 17.3% (4/23), respectively. Overexpression or loss of p53 expression occurred in 26% (6/23), loss of ARID1A expression in 4.3% (1/23), and none of the cases showed expression of PTEN loss. These findings suggest that KRAS/BRAF/PIK3CA and PTEN mutations are rare carcinogenic events in SMBTs. The high frequency of positive p53 staining and a low frequency of loss of ARID1A staining suggests that SMBT carcinogenesis may be related to the alteration of p53 rather than that of ARID1A. ERBB2 oncogenic mutations may play an important role in the tumorigenesis of Japanese SMBTs.