Gastrointestinal Stromal Tumors: A Retrospective Study at a Tertiary Care Center in Saudi Arabia in the Last Decade.

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are a significant subset of mesenchymal tumors primarily found in the gastrointestinal tract, impacting diagnostic and therapeutic approaches. Understanding their epidemiology is crucial for improving patient care and advancing treatment strategies. METHODOLOGY: Our study at a Saudi tertiary hospital analyzed 50 patients with GIST, focusing on demographics, tumor locations, and risk assessments. We examined predictors of tumor size, including mitosis frequency, and assessed the impact of anatomical location and risk on clinical outcomes using RStudio software (Posit, Boston, MA). RESULTS: Among 50 patients with GIST, 36 (72.0%) were male with a median age of 60.5 years, and most tumors (33, 66.0%) were in the stomach. Risk assessments categorized tumors as follows: 20 (40.0%) low risk, 12 (24.0%) high risk, 7 (14.0%) moderate risk, 7 (14.0%) very low risk, and 4 (8.0%) no risk. Most tumors were low-grade (41, 82.0%) and nonmetastatic (47, 94.0%), predominantly spindle cell type (37, 74.0%). Tumor size varied significantly across risk categories: high-risk tumors averaged 10.3 cm versus 0.5 cm for no risk and 3.5 cm for very low risk (P < 0.001). Mitosis frequency differed significantly by risk category and tumor grade (P < 0.001). Tumor grade varied notably with risk categories and morphologic types, especially high-grade tumors in high-risk groups (8, 66.7%) and epithelioid tumors (2, 100%). Multivariable analysis identified predictors of tumor size: anatomical location (extra-GI, intra-abdominal; beta = 7.08, P = 0.011) and risk assessment (low risk, beta = 6.91, P = 0.001; moderate risk, beta = 11.2, P < 0.001; high risk, beta = 8.93, P < 0.001). Liver metastasis did not differ significantly across gender, anatomical location, risk assessment, or tumor grade. CONCLUSIONS: In Saudi Arabia, GISTs predominantly affect males and are primarily located in the stomach. Our findings highlight significant variations in tumor size and grade based on risk assessments and anatomical location. Most GISTs were low-grade, nonmetastatic, and spindle cell type, emphasizing the need for enhanced research to improve diagnostics, tailor treatments, and optimize outcomes in the region.

The Effect of Genetic Variants of SLC22A2 (rs662301 and rs315978) on the response to Metformin in type 2 Saudi diabetic patients.

PURPOSE: To investigate the allelic and genotypic frequencies of the two genetic variations, NC_000006.12: g.160275887C > T (rs662301) and NC_000006.12:g.160231826 T > C (rs315978), in the SLC22A2 gene among the Saudi population. The primary goal is to elucidate potential associations with these genetic variations and the response to metformin therapy over 6 months to enhance our knowledge of the genetic basis of Type 2 Diabetes Mellitus (T2DM) and its clinical management in the Saudi population. MATERIALS/METHODS: 76 newly diagnosed T2DM patients, aged 30 to 60, of both sexes and Saudi origin, were treated with metformin monotherapy. Blood samples were collected before and after 6 months of therapy,80 healthy individuals were included as controls. Genomic DNA was extracted. Genotyping of the SLC22A2 genetic variations was performed using TaqMan® SNP Genotyping Assays. Binary logistic regression was utilized to evaluate how certain clinical parameters influence T2DM concerning the presence of SLC22A2 gene variants. RESULTS: Among these patients, 73.3 % were responders, and 26.7 % were non-responders. For these variants, no statistically significant differences in genotype or allele frequencies were observed between responders and non-responders (p = 0.375 and p = 0.384 for rs662301; p = 0.473 and p = 0.481 for rs315978, respectively). For the SLC22A2 variant rs662301, the C/C genotype was significantly associated with increased T2DM risk with age and elevated HbA1c levels. Similarly, rs315978 revealed higher T2DM susceptibility and HbA1c elevation in C/C genotype carriers, specifically with advancing age compared to individuals with C/T and T/T genotypes. CONCLUSION: The study offers insights into the genetic landscape of T2DM in Saudi Arabia. Despite the absence of significant associations with treatment response, the study suggests potential age-specific associations, this highlights the complexity of the disease. This research underscores the necessity for expanded research, considering diverse populations and genetic factors, to develop personalized treatment approaches. This study serves as a foundation for future investigations into the Saudi population, recognizing the need for a larger sample size.

Cytospin performance when using Paris system for reporting urinary cytology.

Objectives: The Paris System (TPS) for Reporting Urine Cytology has significantly improved the approach to evaluating urine cytology. TPS criteria were defined mainly according to ThinPrep and SurePath preparations, as they are widely utilized. The objective of this study is to validate urine cytology interpretation according to the TPS classification using cytospin technique in relation to the gold slandered histology. Material and Methods: This retrospective study examined and analyzed 316 urine specimens from King Abdulaziz University Hospital between 2015 and 2020. Cytospin technique is performed for all cases. Slides were recategorized using TPS criteria, then compared with the original histology diagnosis. Results: According to the TPS, 108 cases were classified as 101 AUC (32%), 95 NEG (30%), 59 HGUC (18.7%), 31 SHGUC (9.8%), and 30 (9.5%) others. The computed sensitivity of cytospin in urine cytology was 94.7%, with 73.9% specificity, a positive predictive value of 85.6%, a negative predictive value of 89.5%, and overall accuracy of 86.8%. Conclusion: Urine cytology testing is considered to be a non-invasive and sensitive method to screen for urothelial carcinoma. TPS defined standards are reliable on cytospin prepared slides for reporting urine cytology.

A Case Report of Thyroid Plasmacytoma and Literature Update.

Plasmacytomas of the thyroid gland are rare, whether or not they arise as solitary (primary) lesions or secondary to systemic multiple myeloma. Here, we present the case of a 71-year-old female presenting with goiter and Hashimoto's thyroiditis, in whom the subsequent histopathological diagnosis of plasmacytoma was a surprise. In presenting this case, we summarize the last 25 years of literature on thyroid plasmacytoma and review the salient clinicopathological characteristics, differential diagnoses, management, and outcomes of this rare condition.

Long-Term Remission of a Spinal Atypical Teratoid Rhabdoid Tumor in Response to Intensive Multimodal Therapy.

Atypical teratoid rhabdoid tumors (ATRTs) are rare and aggressive central nervous system tumors that infrequently arise in spinal locations in young children. Provided clinical and diagnostic suspicion is high, the histopathological diagnosis is relatively straightforward to secure by testing for the characteristic loss of the tumor suppressor protein SMARCB1/INI1. Here, we describe a case of thoracic spinal ATRT in a three-year-old boy that showed characteristic aggressive progression until managed with intensive multimodal therapy to achieve durable long-term remission. In doing so, we review the histopathological features, management, and current advances in molecular biology that hold promise for personalized ATRT therapy.