Introduction and importance: Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal–Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management. Case presentation: The authors present a case of a 2-year-old girl diagnosed with Hoyeraal–Hreidarsson syndrome, linked to a newly discovered mutation in the poly (A)-specific ribonuclease (PARN) gene. The patient exhibited intrauterine growth retardation (IUGR), congenital cytomegalovirus (CMV) infection, immunodeficiency, microcephaly, and cerebellar hypoplasia. Whole-exome sequencing (WES) identified a novel mutation in the PARN gene. Clinical discussion: Hoyeraal–Hreidarsson syndrome, a severe form of DC, manifests with multisystem involvement and is genetically heterogeneous. Early genetic testing through techniques such as WES can aid in diagnosing rare syndromes like HH and guide treatment strategies, including bone marrow transplantation. Conclusion: This case underscores the importance of genetic evaluation in complex, rare syndromes like HH. Whole-exome sequencing plays a crucial role in identifying pathogenic mutations and tailoring management. The patient’s prognosis is being closely monitored following bone marrow transplantation.

Background/Objective: Tumor biomarkers are widely used in adult oncology, but their diagnostic value in pediatric patients remains unclear. This study aimed to evaluate the clinical significance of CA-125, CA 19-9, CA 15-3, and CEA in children evaluated for suspected malignancy. Methods: This retrospective study included 211 pediatric patients (0–18 years) referred to a tertiary pediatric oncology center. Serum levels of the four biomarkers were analyzed in relation to patient demographics, imaging findings, and final diagnoses. Statistical analyses included chi-square, Mann–Whitney U, Kolmogorov–Smirnov tests, and receiver operating characteristic (ROC) curve analysis. Results: Of the 211 patients, 35 (16.6%) were diagnosed with malignancy. Elevated CA-125 was significantly associated with malignancy (p = 0.002), particularly among postpubertal female patients. Imaging abnormalities were more frequent in CA-125–positive cases (p < 0.001) and in patients with confirmed malignancy. ROC curve analysis demonstrated that CA-125 had an area under the curve (AUC) of 0.642, indicating modest discriminatory power. No significant associations were found for CA 19-9, CA 15-3, or CEA. Conclusions: CA-125 may serve as an adjunctive diagnostic biomarker in pediatric oncology, particularly in postpubertal girls and when interpreted alongside imaging findings. Other markers showed limited diagnostic value. Given its low sensitivity, CA-125 is not suitable as a standalone screening test in children. Larger, multicenter prospective studies are needed to establish pediatric-specific reference ranges and validate these findings.

Purpose: Some patients with cancer use herbal therapy as an adjunct while receiving conventional cancer treatments. Beta-glucans have direct cytotoxic effects on cancer cells as well as stimulatory effects on the immune system. In this study, a nutritional supplement containing 1,3-1,6 beta-glucan obtained from baker's yeast (Saccharomyces cerevisiae) was used by patients diagnosed with sarcoma, and this study aimed to retrospectively evaluate the effect of beta-glucan use on the incidence of neutropenic fever (NF) and survival rates. Materials and Methods: Among the patients diagnosed with sarcoma between 2014 and 2017, 27 patients who used beta-glucan were included in the beta-glucan group, and 31 patients who did not use beta-glucan were included in the control group. The clinical records of patients were retrospectively analyzed. Results: The number of patients who had NF and the mean length of hospital stay due to NF were higher in the beta-glucan group than those in the control group, but the results were not statistically significant. The overall survival rates at 5 years were 83.3% and 52.9% and event-free survival rates at 5 years were 48.1% and 71% in the beta-glucan and control groups, respectively. Conclusion: The effect of prophylactic beta-glucan use on the incidence of NF and survival rates in pediatric patients with sarcoma should be evaluated more reliably in further prospective studies on a large patient group.