Background/Objectives: Advances in the genetic understanding of pheochromocytoma–paraganglioma (PPGL) have considerably refined personalized approaches to diagnosis and management. This study aims to present our institutional experience on the diagnostic characteristics, clinical course, and genetic background of patients with PPGL, in the context of the current literature. Methods: This retrospective analysis included 35 patients diagnosed with PPGL between years 2020 and 2024, all of whom underwent surgical resection and next-generation sequencing for germline mutations in major PPGL susceptibility genes. Clinical presentation, biochemical profile, pathological findings, and follow-up outcomes were compared between mutation-positive and mutation-negative cases. Results: Of the 35 patients with PPGL, germline mutations were identified in 6 patients (17%): 2 in Cluster 1A genes (SDHA, SDHB), 2 in Cluster 1B (VHL), and 2 in Cluster 2 (NF1). Consistent with existing literature, pathogenic germline variants—particularly SDHB and VHL—were identified in our cohort exclusively in patients younger than 30 years (ages 17, 20, and 25). Mutation-positive patients more frequently exhibited noradrenergic or non-secretory profiles (p = 0.01). Among the three non-secretory tumors in the cohort, two harbored genetic mutations (SDHA, NF1). Interestingly, both NF1-positive patients were normotensive—one (c.3496G > A) with a non-secretory tumor and the other (c.2329T > A) presenting at an unusually late age (63 years)—a strikingly atypical spectrum that underscores the phenotypic variability of NF1-associated PPGL. Bilateral disease was observed exclusively in VHL carriers (p = 0.03). Importantly, we identified a rare VHL c.369delG frameshift variant, not previously reported in association with PPGLs, in a patient with PPGL. No significant difference was observed between SDHB loss (p = 0.1) and proliferative indices (mitotic count, Ki-67) (p = 0.07, p = 0.6) between the two groups. During a median follow-up of 24 months (IQR: 18–36), one SDHB-positive patient had a recurrence, while no distant metastases were detected in the remaining mutation carriers. Conclusions: These findings support characteristic clinical patterns among mutation-positive PPGL and underscore the importance of systematic germline testing in all cases—irrespective of age, family history, or biochemical profile—to guide individualized management and enable cascade screening. The identification of a rare VHL c.369delG variant, previously unreported in association with PPGL, within a characteristic VHL-related clinical phenotype highlights the importance of this association. Similarly, atypical NF1 cases emphasize phenotypic variability and reinforce the importance of germline testing even in clinically silent presentations.

Whipple Hastalığı (WH), Tropheryma whipplei adlı bakterinin neden olduğu, özellikle 40-60 yaş arası erkekleri etkileyen, tedavi edilmediğinde ölümcül olabilen nadir ve multisistemik bir enfeksiyondur. Hastalık patogenezinde konakçıya özgü immün yetmezliklerin ve genetik yatkınlığın rol oynadığı düşünülmektedir. Genellikle gastrointestinal malabsorpsiyon semptomları (kronik ishal, kilo kaybı) ortaya çıkmadan yıllar önce gezici poliartralji, ateş ve halsizlik gibi spesifik olmayan bulgularla başlar. Tanıda ince bağırsak biyopsisinde PAS-pozitif makrofajların gösterilmesi, PCR testleri ve immünohistokimyasal boyamalar temel alınır. Standart tedavi, seftriakson veya meropenem ile intravenöz indüksiyonun ardından bir yıllık ko-trimoksazol idamesini ya da alternatif olarak doksisiklin ve hidroksiklorokin kombinasyonunu içerir. Tedavinin ilk aylarında gelişebilen İmmün Yeniden Yapılanma İnflamatuar Sendromu (IRIS) ise kortikosteroidlerle yönetilmesi gereken ciddi bir komplikasyondur. Whipple Disease (WD) is a rare, chronic, and potentially fatal multisystemic infectious disorder caused by the bacterium Tropheryma whipplei, primarily affecting middle-aged men. The pathogenesis is linked to host-specific immune deficiencies and genetic susceptibility rather than bacterial virulence. Patients often suffer from non-specific prodromal symptoms like migratory polyarthralgia and fever for years before classic malabsorption signs, such as chronic diarrhea and weight loss, manifest. Diagnosis relies on detecting PAS-positive macrophages in small bowel biopsies, PCR genetic analysis, and immunohistochemical staining. Standard antimicrobial regimens involve intravenous induction with ceftriaxone or meropenem followed by a one-year oral maintenance of trimethoprim/sulfamethoxazole, or a long-term combination of doxycycline and hydroxychloroquine. Immune Reconstitution Inflammatory Syndrome (IRIS) is a severe complication that can arise during the early months of therapy, often requiring corticosteroid management.

Background: Endothelial cell-specific molecule-1 (ESM-1), also known as endocan, is a biomarker associated with endothelial dysfunction. It is synthesised primarily by vascular endothelial cells, epithelial cells lining the distal renal tubules, and submucosal glands of the bronchi and lungs. The objectives of this study were to investigate the relationship between this molecule, which is known to play a role in inflammatory processes, and macrophage activation syndrome (MAS) associated with COVID-19; and to evaluate whether serum endocan levels are a predictive marker of mortality and clinical severity in COVID-19 patients. Methods: A total of 90 patients diagnosed with COVID-19 were included in the study. Serum samples were collected to determine endocan levels, which were measured using the enzyme-linked immunosorbent assay (ELISA) method. Patients were divided into two groups based on the COVID-19-associated hyperinflammatory syndrome (cHIS) score: Group 1 (cHIS score ≥2/ low-grade hyperinflammation) and Group 2 (cHIS score