Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review.

Atypical teratoid/rhabdoid tumors (AT/RT) are rare, highly malignant neoplasms of the central nervous system that predominantly occur in infants, and are characterized by the presence of rhabdoid cells and inactivation of INI1 or (extremely rarely) BRG1. The vast majority of AT/RT are recognized as primary tumors; however, rare AT/RT or INI1-deficient RT arising from other primary tumors have been reported. To better characterize secondary RT, we performed a histological and molecular analysis of four RT arising from pleomorphic xanthoastrocytoma (PXA), anaplastic PXA, low-grade astrocytoma, or ependymoma. Histologically, although conventional AT/RT are usually not largely composed of rhabdoid cells, three secondary RT were composed mainly of rhabdoid cells, two of which arising from (anaplastic) PXA exhibited marked nuclear pleomorphism reminiscent of that in the precursor lesions. Regarding INI1 alterations, although mutations including small indels are frequent in conventional AT/RT, only in one secondary RT had a mutation. Moreover, together with previously reported cases, biallelic INI1 inactivation in secondary RT was mostly due to biallelic focal and/or broad deletions. Although conventional AT/RT have stable chromosomal profiles, i.e., the frequency of copy number changes involving chromosomes other than chromosome 22 is remarkably low, our array comparative genomic hybridization analysis revealed numerous copy number changes in the secondary RT. In conclusion, secondary RT of the central nervous system are clinicopathologically and molecularly different from conventional pediatric AT/RT, and a nosological issue is whether these secondary RT should be called secondary "AT/RT" as most of the reported cases were.

[Predictive Factors for Gastrointestinal Bleeding Following Hemorrhagic Stroke: A Hospital-Based Cohort Study].

BACKGROUND AND PURPOSE: Gastrointestinal bleeding is an important complication in the acute phase of hemorrhagic stroke. In this study, we aimed to identify the risk factors for gastrointestinal bleeding in patients with hemorrhagic stroke despite the administration of antiulcer drugs. METHODS: We conducted a retrospective cohort study of our hemorrhagic stroke cases. We analyzed the background factors associated with gastrointestinal bleeding in the study population and their outcomes. RESULTS: The study included 837 patients: 598 with intracerebral hemorrhages and 239 with subarachnoid hemorrhages. Among them, 22 patients developed gastrointestinal bleeding. Intraventricular hemorrhage (P=0.0019) and ongoing oral anticoagulant use (P=0.0177) were significantly associated with gastrointestinal bleeding. Gastrointestinal bleeding was significantly associated with severe disability at discharge (P=0.0333) and number of days of hospitalization (P=0.0190). CONCLUSIONS: The risk factors of poorly controlled gastrointestinal bleeding during the acute phase of hemorrhagic strokes were intraventricular hemorrhage and use of anticoagulant drugs. Patients with a high risk for gastrointestinal bleeding need to be identified and to be given effective prophylactic therapy. (Received October 12, 2017; Accepted March 29, 2018; Published August 1, 2018).

New Prediction Score for Hematoma Expansion and Neurological Deterioration after Spontaneous Intracerebral Hemorrhage: A Hospital-Based Retrospective Cohort Study.

OBJECTIVE: To ensure hematoma expansion and neurological deterioration in the management of acute spontaneous intracerebral hemorrhage, accurate prediction is crucial for initial assessment on admission. We conducted this study to develop a new clinical prediction score using only noncontrast computed tomography image and simply measurable variables. METHODS: This study was a retrospective cohort analysis. The study took place in a single academic medical center in Japan. Development of the prediction score was conducted based on patients who presented between October 2010 and June 2015, using univariate and multivariate logistic regression. We then validated the results in a second cohort between July 2015 and April 2017. The primary outcome was hematoma expansion and the secondary outcome was neurological deterioration up to 14 days after onset. RESULTS: In total, 622 patients were included in the analysis after excluding unsuitable cases. Of these, 457 patients were included in the development cohort and 165 were included in the validation cohort, with 10.8% meeting the criteria for hematoma expansion and 8.8% showing neurological deterioration. In the multivariate analysis, predictors of expansion or deterioration were as hematoma heterogeneity on computed tomography, niveau formation, peripheral edema, hematoma volume of more than 30 mL, and anticoagulant use. We then created the HEAVN score based on the univariate regression coefficients. The C-statistics for the hematoma expansion scores were .81 and .80 in the development and validation cohorts, respectively. Similar results were obtained for neurological deterioration. CONCLUSIONS: The HEAVN score is simple and useful for predicting hematoma expansion and neurological deterioration based on imaging and background data.

Specific Factors to Predict Large-Vessel Occlusion in Acute Stroke Patients.

BACKGROUND: The effectiveness of thrombectomy for acute ischemic stroke has been established, and earlier treatment produces better outcomes. If possible to identify large-vessel occlusion (LVO) at the prehospital phase, eligible patients can be shipped directly to a hospital that can perform thrombectomy. The purpose of this study was to determine factors that are specific to LVO and can be known before hospital arrival. METHODS: The subjects were stroke patients during the period between July 2014 and June 2016, who had a National Institutes of Health Stroke Scale (NIHSS) score of 8 or higher and came to our hospital within 6 hours of onset. These patients were divided into an LVO group and a non-LVO group, and background factors, mode of onset, individual NIHSS item scores, and blood pressure at the time of the visit were retrospectively investigated. The selected factors were compared with LVO prediction scales reported in the past. RESULTS: There were 196 stroke patients who had NIHSS scores of 8 or higher and arrived at the hospital within 6 hours. Of these 196 patients, 56 had LVO. This LVO group included a significantly higher number of patients with the 2 items of atrial fibrillation (odds ratio [OR], 11.5: 95% confidence interval [CI], 4.04-32.9; P < .0001) and systolic blood pressure of 170 mm Hg or lower (OR, 2.99: 95% CI, 1.33-6.71, P = .008). These 2 items predicted LVO equally to existing LVO prediction scales. CONCLUSIONS: The 2 items of atrial fibrillation and systolic blood pressure of 170 mm Hg or lower were significantly correlated with LVO.

[An Extremely Rare Case of Penetrating Head Injury Caused by a Nasal Implant Made of an Ivory Chip and a Review of the Literature].

Although penetrating head injuries are very rare in Japan, an extremely rare case is reported in which an ivory chip, embedded in the subcutaneous tissue by a cosmetic rhinoplasty, penetrated the cranium. A 69-year-old woman with a psychiatric disorder suddenly jumped down from a window and bruised her face. The ivory chip went into her left frontal lobe via the frontal sinus. At surgery, it was completely removed via the nasion. There were no postoperative complications after adequate frontal sinus repair and closure of dura mater with a piece of pericranium. The literature dealing with Japanese penetrating head injuries was also reviewed. (Received May 27, 2015; Accepted December 1, 2015; Published June 1, 2016).

Glioblastoma with Rhabdoid Features: Report of Two Young Adult Cases and Review of the Literature.

BACKGROUND: There are few previous reports of glioblastoma in young adults, in particular, of the very rare recently proposed rhabdoid or epithelioid types. CASE DESCRIPTION: We report 2 cases of glioblastoma with rhabdoid features involving a 27-year-old woman and a 41-year-old man. In case 1, the patient presented with generalized seizures, and the initial magnetic resonance imaging showed a very small region of contrast in the left parahippocampal area. After 1 year, the mass suddenly increased in size. Treatment with multiple therapies was administered, but 5 months later, the patient died from multiple systemic metastases. In case 2, the patient presented with a chief complaint of headache for a few weeks. Computed tomography and magnetic resonance imaging showed a left parietal mass with calcification and meningeal dissemination. After undergoing surgical removal, his condition rapidly deteriorated until brain death occurred. CONCLUSIONS: Glioblastoma with rhabdoid features may represent a specific pattern of clinical progression that emerges from histologic glioblastoma types.