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Background: Lynch syndrome (LS) is one of the commonest genetic cancer syndromes, with an incidence rate of 1 per 250–1000 population. The aim of this study was to evaluate the frequency and characteristics of MMR deficiency in endometrial cancer in Iranian women. Methods: One hundred endometrial carcinoma cases who referred to the gynecological oncology clinic of Imam Hossein Medical Center located in Tehran, Iran, from 2018 to 2020 were included in the study. Immunohistochemistry (IHC) evaluation was performed mainly on the hysterectomy specimens of all endometrial cancer (EC) patients to assess MMR proteins (MLH1, MSH2, MSH6, and PMS2) expression. Results: A total of 23 out of 100 (23%) cases were identified through IHC screening to be MMR-deficient. The most common types were loss of MLH1/PMS2 (17.4%) and solitary MSH2 (17.4%) expressions followed by PMS2/MSH2 loss (13%). MMR deficiency (dMMR) histopathology was significantly overrepresented in patients with family history of cancer or Lynch syndrome (LS) associated cancers (p-values of 0.016 and 0.005, respectively). The rate of myometrial invasion and lower uterine segment involvement were also significantly higher in dMMR EC patients compared to MMR-intact EC (p-value of 0.021 and 0.018, respectively). Conclusion: MMR deficiency, observed in 23% of endometrial cancer cases, was associated with higher rates of poor prognostic factors including myometrial invasion and lower uterine segment involvement. The presence of positive family history of cancer and family history of LS-associated cancer increased the probability of MMR-deficiency in endometrioid endometrial cancer to 47% and 70%, respectively. [ABSTRACT FROM AUTHOR]

Background: Understanding the heterogeneity of a population at risk is an important step in the early detection of gastric cancer. We aimed to cluster demographic, hematological, and biochemical markers of gastric cancer in a heterogeneous sample of patients., Methods: Data of 695 adult patients (50.0% women) who were diagnosed with histologically confirmed gastric cancer, benign gastric disease, or identified as healthy individuals (December 2018 to August 2019, Hangzhou, China) were analyzed. We conducted hierarchical clustering using a factorial analysis of mixed data. To assess the clustering scheme, we also developed a machine-learning classification model using the Extreme Gradient Boosting algorithm and subsequently ranked the variables for differentiating patient phenotypes., Results: Three clusters were identified using patient characteristics. The classification model showed high performance (multi-class AUC = 0.921) for recognizing the clusters. The top five important variables in differentiating the clusters were sex, hemoglobin, albumin, creatinine, and high-density lipoprotein (all ANOVA P <0.001) in decreasing order of importance. The prevalence of gastric cancer in clusters I, II, and III was 95.8%, 53.8%, and 34%, respectively [χ 2 (2) = 164.050, P <0.001]. Cluster I (N = 167) predominantly had an inflammatory profile, Cluster II (N = 240) showed metabolic disturbances, and Cluster III (N = 288) presented a relatively favorable metabolic and inflammatory profile., Conclusion: There were distinct clinical phenotypes in the population, each with varying prevalence of gastric cancer. A combination of routine clinical data outperformed carbohydrate or carcinoembryonic antigens in capturing the heterogeneity of the population regarding gastric pathologies., (Copyright © 2025 Society for Surgery of the Alimentary Tract. Published by Elsevier Inc. All rights reserved.)

Background: Lynch syndrome (LS) is one of the commonest genetic cancer syndromes, with an incidence rate of 1 per 250-1000 population. The aim of this study was to evaluate the frequency and characteristics of MMR deficiency in endometrial cancer in Iranian women., Methods: One hundred endometrial carcinoma cases who referred to the gynecological oncology clinic of Imam Hossein Medical Center located in Tehran, Iran, from 2018 to 2020 were included in the study. Immunohistochemistry (IHC) evaluation was performed mainly on the hysterectomy specimens of all endometrial cancer (EC) patients to assess MMR proteins (MLH1, MSH2, MSH6, and PMS2) expression., Results: A total of 23 out of 100 (23%) cases were identified through IHC screening to be MMR-deficient. The most common types were loss of MLH1/PMS2 (17.4%) and solitary MSH2 (17.4%) expressions followed by PMS2/MSH2 loss (13%). MMR deficiency (dMMR) histopathology was significantly overrepresented in patients with family history of cancer or Lynch syndrome (LS) associated cancers (p-values of 0.016 and 0.005, respectively). The rate of myometrial invasion and lower uterine segment involvement were also significantly higher in dMMR EC patients compared to MMR-intact EC (p-value of 0.021 and 0.018, respectively)., Conclusion: MMR deficiency, observed in 23% of endometrial cancer cases, was associated with higher rates of poor prognostic factors including myometrial invasion and lower uterine segment involvement. The presence of positive family history of cancer and family history of LS-associated cancer increased the probability of MMR-deficiency in endometrioid endometrial cancer to 47% and 70%, respectively., Competing Interests: The authors declare that they have no competing interests.