Isocitrate dehydrogenase 1 mutant glioblastomas demonstrate a decreased rate of pseudoprogression: a multi-institutional experience.

BACKGROUND: Pseudoprogression (psPD) represents false radiologic evidence of tumor progression and is observed in some glioblastoma (GBM) patients after postoperative chemoradiation (CRT) with temozolomide (TMZ). The ambiguity of the psPD diagnosis confounds identification of true progression and may lead to unnecessary interventions. The association between psPD and isocitrate dehydrogenase 1 (IDH1) mutational (mut) status is understudied, and its incidence may alter clinical decision making. METHODS: We retrospectively evaluated 120 patients with IDH1-mut (n = 60) and IDH1-wild-type (IDH-WT; [n = 60]) GBMs who received postoperative CRT with TMZ at 4 academic institutions. Response Assessment in Neuro-Oncology criteria were used to identify psPD rates in routine brain MRIs performed up to 90 days after CRT completion. RESULTS: Within 90 days of completing CRT, 9 GBM patients (1 [1.7%] IDH1-mut and 8 [13.3%] IDH1-WTs) demonstrated true progression, whereas 17 patients (3 [5%] IDH1-muts and 14 [23.3%] IDH1-WTs) demonstrated psPD (P = .004). IDH1-mut GBMs had a lower probability of psPD (hazard ratio: 0.173, 95% CI, 0.047-0.638, P = .008). Among the patients with radiologic signs suggestive of progression (n = 26), psPD was found to be the cause in 3 of 4 (75.0%) of the IDH1-mut GBMs and 14 of 22 (63.6%) of the IDH1-WT GBMs (P = .496). Median overall survival for IDH1-mut and IDH1-WT GBM patients was 40.3 and 23.0 months, respectively (P < .001). CONCLUSIONS: IDH1-mut GBM patients demonstrate lower absolute rates of psPD expression. Irrespective of GBM subtype, psPD expression was more likely than true progression within 90 days of completing CRT. Continuing adjuvant treatment for IDH1-mut GBMs is suggested if radiologic progression is suspected during this time interval.

Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature.

Williams syndrome is a rare genetic disease that affects elastin production, leading to medium and large vessel stenoses and other abnormalities. Cardiac manifestations of Williams syndrome are the most life-threatening, occurring in 80% of children. Children with Williams syndrome are known to be at risk for sudden cardiac death. These tragic events are often precipitated by diagnostic or therapeutic procedures requiring anaesthesia or sedation, such as cardiac catheterisation. We present the case of a 3-month-old infant with Williams syndrome who suffered sudden cardiac arrest during cardiac catheterisation and subsequent arrest approximately 48 hours after the procedure. We also review the current literature focused on children with Williams syndrome who have suffered sudden cardiac arrest during or after cardiac catheterisation procedures.

Primary Spinal Intradural Extraosseous Ewing Sarcoma in a Pediatric Patient: Case Report and Review of the Literature.

Ewing sarcoma (ES) is an aggressive, primary bone malignancy with occasional soft tissue extension. Purely extra-osseous ES is rare. A primary intraspinal, intradural ES without bone involvement is exceedingly rare. ES may be differentiated from other primitive neuroectodermal tumors by molecular analysis. The authors report the case of a 14-year-old female who suffered an acute neurologic decline from a hemorrhagic, intraspinal, intradural ES. The patient has been tumor free for 2 years after the initial emergency surgery. Our management of the patient and a review of the literature are provided. Considering only those cases with molecular or genetic confirmation of ES, our patient is the fifth pediatric case reported in the English literature.