Among intracranial embryonal tumors, genetic/epigenetic analysis can help unveil the molecular background. Herein, we report a case of a cerebellar pontine angular embryonic tumor complicated by Cowden syndrome in an infant. The tumor radiologically lacked evidence of interaction with the cerebellum and appeared to show continuity with the pons. Pathological appearance was similar to that of a medulloblastoma with extensive nodularity. DNA methylation analysis indicated that the tumor was a “medulloblastoma, sonic hedgehog-activated” with a substantial confidence. Although the diagnosis deviated from the definition of medulloblastoma, clinical, pathological and molecular data suggested that it was an “ectopic” medulloblastoma.

Background: The present study aimed to examine the effect of magnesium (Mg) supplementation on cisplatin-induced nephrotoxicity (CIN) in pediatric cancer patients. Methods: The present phase II, open-label, multicenter, randomized controlled trial enrolled patients aged less than 20 years who were scheduled to receive cisplatin-containing chemotherapy and randomly allocated them at a ratio of 1:1 to a Mg supplementation arm with even-numbered chemotherapy courses (arm AB) or another arm with odd-numbered courses (arm BA). Analysis objects were reconstructed into two groups depending on whether the chemotherapy course had Mg supplementation (group B) or not (group A). The primary outcome was the proportion of chemotherapy courses resulting in elevating serum creatinine per chemotherapy course. The secondary outcomes included efficacies evaluated using other biomarkers and the safety of the Mg supplementation. Results: Twenty-eight patients were randomly allocated to either group (16 to arm AB and 12 to arm BA). The baseline characteristics of the groups were similar. There was no significant difference in elevated serum creatinine between the groups (group A: 10% vs. group B: 6%; P=0.465), nor was any significant difference observed in other biomarkers during any chemotherapy course. The Mg value during chemotherapy was significantly higher in group B than in group A. No adverse events related to magnesium administration were observed. Conclusions: The study design, which treated a single chemotherapy course as a study object, failed to detect a statistically significant benefit of Mg supplementation for preventing CIN in pediatric cancer patients.

A targeted sequencing technique was applied to detect cases of suspected congenital thrombocytopenia as a case series study. Six of 18 patients tested had positive results from the existing catalogue, while a definitive diagnosis was not determined for the remaining 12. Two neonates revealed defects in PTPN11, indicating Noonan syndrome.

Background. Therapy for relapsed or refractory (r/r) T-cell acute lymphoblastic leukemia (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL) in children is challenging, and new treatment methods are needed. Previous studies have shown a promising response to the addition of nelarabine to chemotherapy for r/r T-ALL and T-LBL. Methods. We retrospectively analyzed the therapy of nelarabine in combination with etoposide, cyclophosphamide, and intrathecal therapy in eight pediatric patients with r/r T-ALL and T-LBL. The treatment regimen consisted of five consecutive days each of nelarabine (650mg/m 2/dose) and etoposide (100mg/m 2/dose)/cyclophosphamide (440mg/m 2/dose) separated by at least three days. Results. Five patients had T-ALL, and three patients had T-LBL. Of all patients, five achieved complete response, and the other three achieved partial response. All the patients underwent hematopoietic stem cell transplantation (HSCT) after two cycles of the treatment, except for one case with one course. Three patients who had previously received HSCT were treated with reduced-intensity conditioning regimens, including fludarabine, melphalan, and nelarabine; one of whom is still alive over five years after the second HSCT. Grade 2 neuropathy occurred in one patient, and other severe toxicities commonly associated with nelarabine were not observed during nelarabine-containing salvage therapy. With a median follow-up of 900 days for survivors, the 2-year overall survival and event-free survival rates were 60.0% and 36.5%, respectively. Conclusion. The addition of nelarabine to reinduction chemotherapy was useful for HSCT in remission and did not lead to excessive toxicity. In addition, a conditioning regimen including nelarabine appeared to be effective in previous HSCT patients.