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Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing
No full textGenetic causes of familial isolated pituitary adenomas (FIPAs) remain mostly elusive. A cohort of 20 FIPA cases from 12 different geographical regions of Türkiye was included to characterize clinical and genetic features. Whole exome sequencing (WES) was performed on genomic DNA of index cases, followed by confirmation through Sanger sequencing utilizing indexes and their relatives to interpret disease associated variants. Index cases among homogeneous (n = 10) and heterogeneous (n = 10) FIPA groups (45% female /55% male), age at diagnosis was 36.3 ± 11.98 years, median follow-up was 103 months. GH-secreting adenomas dominated homogeneous group (60% vs. 30% of heterogeneous group). Two predefined AIP variants [p.(Arg304Ter) and p.(Arg81Ter)] and a novel AIP variant at splice acceptor site [(c.646-1G > C)] were detected in three families (15%). Syndromic heterozygous novel NF1 [p.(Thr1295Ala)], TSC1 [p.(Arg517Gln)], SDHB [p.(Glu176Gly)] and CDH23 [p.(Ala765Val)] variants were detected in four FIPA families, along with novel candidate genes in the remaining patients of the cohort. Among all detected variants, three [p.(Arg81Ter) and (c.646-1G > C) in AIP, and p.(Glu216GlysfsTer61) in TINF2] were classified as pathogenic according to ACMG. AIP mutation frequency was 15% in our cohort. A novel AIP variant, and novel variations in syndromic genes were identified, along with the introduction of candidate genes. WES method is a crucial approach to identify new rare genetic variants in familial settings, and it will pave the way for future studies on targeted therapies
Solitary fibrous tumor of kidney and renal hilus: a multi-institutional clinicopathologic analysis of 43 cases
No full textSolitary fibrous tumor (SFT) is a fibroblastic neoplasm characterized by prominent, staghorn, or delicate “hemangiopericytoma (HPC)-like vasculature”, NAB2::STAT6 gene fusion, and its surrogate STAT6 expression. SFT may exhibit an unpredictable clinical course, necessitating risk assessment based on tumor characteristics. Renal SFTs are rare and have not been well characterized. Forty-three primary kidney SFT cases are reviewed for clinical, morphological, and immunohistochemical (STAT6, BCL2, CD34, and PAX8) features. A four-variable risk stratification by Demicco was applied based on patient age, tumor size, mitotic activity, and tumor necrosis. The mean age was 49 years (range 11–83 years) with a slight female predominance (male:female = 20:23). The mean tumor size was 7.8 cm (1.6–32 cm). Tumors were mainly located at the hilus (22/32, 68%) and had well-demarcated borders (31/42, 74%). Morphologically, tumors were categorized as 1) Fibrous (“SFT-like”, 19/43, 44%), characterized by hypocellularity and prominent fine-reticular or keloidal collagen; 2) Cellular (“HPC-like”, 8/43, 19%), with hypercellularity, short spindle to small cell-like proliferation, and lacking a collagenous background; 3) mixed fibrous/cellular (16/43, 37%) displaying both components. Four cases featured a lipomatous component. BCL2 was positive in all tested cases (28/28), CD34 in all but 3 cases (93%), and STAT6 in all but one case (39/40, 97.5%). PAX8 was positive in 6/34 (18%) cases. Most cases (29/43, 68%) were classified as low-risk, followed by intermediate (12/43, 27%) and high-risk (2/43, 5%) groups. Five of 29 (18%) patients had metastatic disease, and two patients with high-risk and one with intermediate-risk tumors died from the disease, while 25 patients with low- or intermediate-risk tumors were alive for an average of about 36 months. We emphasize the usefulness of the risk stratification system in predicting prognosis. PAX8 expression in a subset of renal SFT represents a potential diagnostic pitfall
Sürdürülebilirlik Raporlamasına Dair Esas Sözleşmede Öngörülebilecek Hükümlerin Türk Ticaret Kanunu'na Göre Değerlendirilmesi
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Pseudoagostic Interaction Based Zirconium Sensing Using 1,2,3-Triazole and Its Anticarcinogenic Potential Evaluation Through In Vitro and In Silico Approach
No full textWith excellent yield, high selectivity, and sensitivity new 1,4-disubstituted 1,2,3-triazoles (8a) and (8b) were synthesized via Cu(I) catalyzed click reaction stitching the hydrazone tethered azide moiety with two different alkyne probes. They were subsequently characterized by 1H NMR, 13C NMR, mass spectrometry, and FT-IR spectroscopy. In addition, X-ray crystallography offered the full structural elucidation of compounds (4), (5), and (8a). The optical properties of the designed chemosensor (8a) towards Zr(IV) have been assessed through UV-visible and fluorescence spectroscopy. The LOD values obtained from absorption and emission spectroscopy are 50 and 0.90 nM, respectively. The pseudoagostic interaction between (8a) and Zr(IV) was established using 1H NMR, mass spectrometry, and FT-IR spectroscopy. (8a) and (8b) exhibited good antioxidant properties with 0.7135 and 0.856 mu M IC50 values and also revealed anticarcinogenic action in both in vitro and docking examinations, it may be anticipated that both probes have the potential to act as antitumor drugs
The Importance Of Visual Perception Criteria In The Showcase Designs Of Textile And Clothing Stores
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