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Objective: Neuroblastoma is one of the common tumors of childhood. The demonstration of new factors such as isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) mutations will be important in the diagnosis and treatment. IDH1 and IDH2 mutations have been found in many types of cancer, such as malignant gliomas, acute myeloid leukemias, chondrosarcoma, and thyroid carcinoma. This study aimed to investigate the presence of IDH1 or IDH2 mutations in patients with neuroblastoma and to determine whether these mutations were different in terms of age, clinical findings, and response to treatment. Methods: Biopsy specimens of 25 patients with pediatric neuroblastoma patients were evaluated for IDH mutations. The clinical and laboratory features of the patients with/without mutation were retrospectively analyzed from a hospital database. Results: A total of 25 patients for whom genetic analysis could be performed were included in the study (60% male, n=15). The mean age was 32.2±25.9 months (3 days-96 months). IDH1 mutation was detected in 8 (32%) and IDH2 mutations in 5 (20%) patients. These mutations showed no statistically significant relationship with age, tumor localization, laboratory results, stage, and prognosis. However, in the case of IDH mutation, patients were diagnosed at the advanced stage. Conclusions: This study demonstrated the relationship between neuroblastoma and IDH mutation for the first time. Because to the fact that the mutation is very heterogeneous, it would be appropriate to conduct a larger series of patients in terms of the impact of the clinical significance of each mutation on the diagnosis and prognosis. [ABSTRACT FROM AUTHOR]

Background. Trichosporon asahii is an opportunistic fungus that causes infections in immunosuppressed patients. Neutropenia developing due to malignancies is an important risk factor for fungal infection. Case Report. We present two pediatric oncology cases successfully treated with voriconazole after T. asahii infection that is known to cause fatal sepsis and invasive fungal infection. Conclusion. There is no conclusive evidence that the antifungal agent voriconazole is effective in the neutropenic patients infected with Trichosporon asahii. Liposomal amphotericin B has also been reported to be inadequate for treatment. We believe that our patients were successfully treated and survived because the antifungal agents were started early and properly, although the infection can be fatal in up to 80% of cases despite treatment. [ABSTRACT FROM AUTHOR]

Objective: The pediatric malignancy survival rate has increased with new and intensive treatment modality advancements. This has led to an approximately 70% chance of surviving more than 5 years in children diagnosed with cancer. However, the secondary tumor incidence has also increased with these advances. The patient's quality of life, late side effects, and prevention of secondary malignancies in the future are as important as treating the primary tumor in pediatric cancer patients. Methods: We retrospectively evaluated the charts of 2100 pediatric cancer patients who were diagnosed in our clinic between 1985 and 2012. Results: There were 11 secondary tumors. Male-to-female ratio was 6:5 and median age at diagnosis was 7 years (range, 1 year 3 months-11 years 6 months). Secondary tumor diagnosis was AML in five patients, paraganglioma in one patient, liposarcoma in one patient, rhabdomyosarcoma in one patient, papillary thyroid carcinoma in one patient, malignant fibrous histiocytoma in one patient, and squamous cell carcinoma of the tongue in one patient. AML was the most commonly detected secondary malignancy. Conclusion: We suggest that using less toxic systemic chemotherapy and reduced-dose radiotherapy is increasingly important with targeted treatment modalities to decrease the risk of secondary malignancy. [ABSTRACT FROM AUTHOR]

Background Vitamin D receptor ( VDR) polymorphisms have been studied in immune-mediated disorders, but not yet in immune thrombocytopenic purpura ( ITP). We investigated whether VDR variants were associated with ITP in children. Methods The study included 44 children with a diagnosis of ITP and 100 healthy controls. Five VDR polymorphisms (Cdx-2, FokI, BsmI, ApaI and TaqI) were genotyped and used to evaluate the association of VDR variants with ITP. Results The distribution of the three Cdx-2 genotype groups ( GG, GA, and AA) was significantly different between ITP patients and controls ( P = 0.025); the homozygous GG genotype of Cdx-2 was overrepresented in ITP patients. The frequency of the A allele of Cdx-2 was significantly different between patients and controls ( P = 0.01). The A allele of Cdx-2 was associated with a decreased risk of ITP ( OR, 0.343; 95% CI: 0.150-0.782). No statistically significant difference was found between the ITP group and control group for Fok1, Bsm1, Apa1, and Taq1 polymorphisms ( P > 0.5). Conclusion There appears to be an interaction between the Cdx-2 variant of VDR and childhood immune thrombocytopenia. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effectiveness and safety of sirolimus therapy in a child with macroglossia due to lymphatic malformation. Methods: Sirolimus treatment was applied to the patient with an initial dosing of 0.8 mg/m2 per dose, administered orally, twice daily at approximately 12-hour intervals. Results: After 9 months of sirolimus therapy, there was a nearly complete resolution of lymphatic malformation. The last evaluation was performed 6 months after withdrawal of treatment, and the lesion had almost completely resolved. Conclusion: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases. [ABSTRACT FROM AUTHOR]