Recurrent medulloblastoma can be difficult to diagnose with conventional diagnostic methods because other lesions mimic tumor relapse, particularly at later stages. We report 2 cases of medulloblastoma, both of which seemed to develop late recurrences. Case 1 was a 6-year-old girl who had a medulloblastoma with focal desmoplasia. She was in complete remission for 9 years after treatment but developed an intradural lesion in her thoracic spine, which was pathologically confirmed as tumor recurrence by biopsy. Case 2 was a 10-year-old girl who had a nonmetastatic medulloblastoma. She developed a left cerebellar mass 5 years after the initial diagnosis; the pathological diagnosis was tumor relapse. We performed t-distributed stochastic neighbor embedding of the methylation data from these cases and reference data. In contrast to the consistency of methylation profiling and copy number abnormalities between primary and recurrent tumors of Case 1, the analysis of the recurrent tumor in Case 2 was distinct from medulloblastomas and clustered with “IDH-wild type glioblastomas,” suggesting that the recurrent tumor was a radiation-induced glioblastoma. This report highlights the clinical utility of molecular genetic/epigenetic analysis combined with a standard diagnostic approach to confirm the diagnosis of brain tumor recurrence.
Perioperative management of severe congenital protein C deficiency remains unestablished. This deficiency is often treated with anticoagulants, such as warfarin. Although anticoagulants need to be perioperatively discontinued, there are few methods for the management of such patients. We adopted a method for administering prothrombin complex concentrates (PCC), which includes intermittent administration of inactive protein C (PPSB-HT), and examined its outcome as a perioperative management approach for severe congenital protein C deficiency. Three patients underwent our perioperative management six times. We monitored activity levels of protein C, factor IX, and so forth. These patients could be perioperatively managed with PCC treatment.
Medulloblastoma is one of the most common malignant brain tumors in children. Despite multi-disciplinary treatment for medulloblastoma, including surgery, chemotherapy, and radiation, which have resulted in significant improvement of the prognosis, about 30% of patients still experience recurrence. Most recurrences occur within the first 15 months from diagnosis and late relapse of the tumor is quite rare. We report a case of a 15-year-old female patient with recurrent medulloblastoma 9 years after the primary tumor. At the age of 6, this patient developed a posterior fossa tumor without metastasis and underwent near-total resection. The pathological diagnosis was medulloblastoma with focal desmoplasia. After the surgery, she received multi-agent chemotherapy and radiation therapy consisting of 18 Gy craniospinal irradiation and 51.2 Gy local irradiation. She was in complete remission for 9 years after the treatment. However, gait disturbance began to gradually appear, and magnetic resonance imaging (MRI) showed an intradural lesion in her thoracic spine. The lesion was biopsied, and the pathological findings confirmed the recurrence of medulloblastoma. Currently, we plan to administer local radiation therapy concomitantly with temozolomide to the patient. The case reminds us of the importance of long-term careful follow-up of patients with medulloblastoma. Further studies are warranted for the treatment of relapsed medulloblastomas due to the limited information available at present.
In 2019, defibrotide (DF) was approved for use to treat sinusoidal obstruction syndrome in Japan. However, few studies in the literature report on its use in children. We retrospectively analyzed cases of pediatric patients who underwent hematopoietic cell transplantation and developed sinusoidal obstruction syndrome, which was treated with DF in our center. Four patients with myelodysplastic syndrome(n=1) , X-linked inhibitor of apoptosis protein(XIAP)deficiency (n=1) , neuroblastoma(n=1) , and acute lymphoblastic leukemia(n=1)were included in the study. Total bilirubin levels decreased after the start of DF therapy in all cases, except in the patient with acute lymphoblastic leukemia, who died immediately after starting DF therapy owing to worsening of the primary disease. Of the three patients whose total bilirubin levels decreased, two recovered and one died because of multiple organ failure. Apparent adverse events with DF administration were not observed, and a decrease in total bilirubin levels early in the treatment period tended to be a predictor of treatment response. It is hoped that more reports of patients with DF administration in Japan will be accumulated in the future.
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