Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are extremely rare tumors that typically arise in infancy; however, these entities have not been well characterized in terms of genetic alterations or clinical outcomes. Here, through a multi-institutional collaboration, the largest cohort of DIG/DIA to date is examined using advanced laboratory and data processing techniques. Targeted DNA exome sequencing and DNA methylation profiling were performed on tumor specimens obtained from different patients ( = 8) diagnosed histologically as DIG/DIGA. Two of these cases clustered with other tumor entities, and were excluded from analysis. The remaining 16 cases were confirmed to be DIG/DIA by histology and by DNA methylation profiling. Somatic gene mutations were discovered in 7 instances (43.8%); 4 were mutations, and 3 were mutations. Three instances of malignant transformation were found, and sequencing of the recurrence demonstrated a new mutation in one case, new deletion in one case, and in the third case, the original tumor harboredan fusion, also present at recurrence. DIG/DIA are distinct pathologic entities that frequently harbor mutations. Complete surgical resection is the ideal treatment, and overall prognosis is excellent. While, the small sample size and incomplete surgical records limit a definitive conclusion about the risk of tumor recurrence, the risk appears quite low. In rare cases with wild-type , malignant progression can be observed, frequently with the acquisition of other genetic alterations. DIG/DIA are a distinct molecular entity, with a subset frequently harboring either or mutations..
OBJECTIVE Fusiform dolichoectatic vertebrobasilar aneurysms are rare, challenging lesions. The natural history of these lesions and medium- and long-term patient outcomes are poorly understood. The authors sought to evaluate patient prognosis after diagnosis of fusiform dolichoectatic vertebrobasilar aneurysms and to identify clinical and radiographic predictors of neurological deterioration. METHODS The authors reviewed multiple, prospectively maintained, single-provider databases at 3 large-volume cerebrovascular centers to obtain data on patients with unruptured, fusiform, basilar artery dolichoectatic aneurysms diagnosed between January 1, 2000, and January 1, 2015. RESULTS A total of 50 patients (33 men, 17 women) were identified; mean clinical follow-up was 50.1 months and mean radiographic follow-up was 32.4 months. At last follow-up, 42% (n = 21) of aneurysms had progressed and 44% (n = 22) of patients had deterioration of their modified Rankin Scale scores. When patients were dichotomized into 2 groups- those who worsened and those who did not-univariate analysis showed 5 variables to be statistically significantly different: sex (p = 0.007), radiographic brainstem compression (p = 0.03), clinical posterior fossa compression (p < 0.001), aneurysmal growth on subsequent imaging (p = 0.001), and surgical therapy (p = 0.006). A binary logistic regression was then created to evaluate these variables. The only variable found to be a statistically significant predictor of clinical worsening was clinical symptoms of posterior fossa compression at presentation (p = 0.01). CONCLUSIONS Fusiform dolichoectatic vertebrobasilar aneurysms carry a poor prognosis, with approximately one-half of the patients deteriorating or experiencing progression of their aneurysm within 5 years. Despite being high risk, intervention-when carefully timed (before neurological decline)-may be beneficial in select patients.
BackgroundAlthough studies continue to demonstrate lower complications in neurointerventions using transradial access (TRA) compared with transfemoral approaches, anatomic radial variants can be difficult to navigate and remain one of the frequent causes of access site conversion.ObjectiveTo evaluate predictors of TRA failure in neuroendovascular patients with radial loops and suggest a protocol for managing these anomalies.MethodsA prospective collection of patients undergoing TRA at participating institutions from July 2018 to September 2020 was reviewed. Patients with a radial loop were identified. Patient demographics and procedural characteristics were evaluated to determine predictors of both TRA failure and successful reduction of the radial loop.ResultsWe identified 32 transradial neurointerventions in which patients had radial loops. Twenty-two (68.8%) were identified by diagnostic angiography, and the majority were performed for evaluation or treatment of an aneurysm (56.3%). TRA failure occurred in 13 (40.6%) of the cohort and happened more frequently in patients over 60 years of age (p=0.01) and those with recurrent radial artery diameters ≤2 mm (p=0.02). Of the 19 patients who had successful TRA, 12 (63.2%) procedures were performed through the recurrent radial artery.ConclusionAlthough radial loops are associated with high transradial failure rates, our results suggest that the presence of a loop is not an absolute contraindication to TRA. Therefore, we recommend attempting loop navigation using our protocol. Patient age, vascular tortuosity, and recurrent radial artery size should help dictate when to convert to an alternative access site.
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