Search

Molecular analysis of the growing teratoma syndrome has not been extensively studied. Here, we report a 14-year-old boy with a growing mass during treatment for a mixed germ cell tumor of the pineal region. Tumor markers were negative; thus, growing teratoma syndrome was suspected. A radical resection via the occipital transtentorial approach was performed, and histopathological examination revealed a teratoma with malignant features. Methylation classifier analysis confirmed the diagnosis of teratoma, and DMRT1 loss and 12p gain were identified by copy number variation analysis, potentially elucidating the cause of growth and malignant transformation of the teratoma. The patient remains in remission after intense chemoradiation treatment as a high-risk germ cell tumor.

Abstract Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal proliferation of leptomeningeal melanocytes. Early acquisition of post-zygotic somatic mutations has been postulated to underlie the pathogenesis of NCM. The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus. The patient expired six months after the onset due to respiratory failure caused by abdominal dissemination via VP shunt. We performed multiregional exome sequencing to identify genomic differences among brain and abdominal tumors, nevus, and normal tissues. A total of 87 somatic mutations were found in 71 genes, with a significantly large number of gene mutations found in the tumor site. The genetic alterations detected in the nevus were only few and not shared with other sites. Three mutations, namely GNAQ R183Q, S1PR3 G89S and NRAS G12V, considered pathogenic, were found, although S1PR3 mutations have not been previously reported in melanocytic tumors. GNAQ and S1PR3 mutations were shared in both tumor and normal sites. Moreover, the mutant allele frequencies of the two mutations were markedly higher in tumor sites than in normal sites, with copy-neutral loss-of-heterozygosity (CN-LOH) occurring in tumor. NRAS mutation was found only in the abdominal tumor and was thought to be responsible for malignant progression in the present case. Multiregional comprehensive genetic analysis may lead to discovering novel driver mutations associated with tumorigenesis and targeted therapy.

In Japan, which has a super-aging society, there are increasing opportunities to perform mechanical thrombectomy for the elderly; however, there is no recorded evidence of thrombectomy for the elderly. This study examined the usefulness of thrombectomy in the elderly. We retrospectively analyzed patient data using a multicenter acute ischemic stroke registry (NGT-FAST). We examined outcomes in patients 75 years and older who underwent thrombectomies between January 1, 2021, and December 31, 2021. The patients were divided into two groups: the 75-84-year-old group and the 85+-year-old group. There was no difference in the pretreatment National Institutes of Health Stroke Scale score or Alberta Stroke Program Early Computed Tomography Score between the two groups, but the 85+-year-old group had a significantly lower rate of pre-stroke modified Rankin Scale (mRS) score of 0-2. There were no differences in time from onset to treatment or effective recanalization rate, but complications tended to be more common in the 85+-year-old group. The number of patients with a good outcome at discharge (an mRS score of 0-3) was significantly lower in the 85+-year-old group than in the 75-84-year-old group. In addition, 90.9% of patients in the 85+-year-old group with a pre-stroke mRS score of 3 deteriorated after treatment. The pre-stroke mRS score is very important in determining the indication for thrombectomy in the elderly because their preoperative condition is more likely to influence the outcome than that of younger patients.

Background/Aims The objective of this study was to elucidate the histological structure of the absent microsurface patterns (MSPs) that were visualized by magnifying endoscopy with narrow-band imaging (M-NBI). Methods The study included consecutive gastric epithelial neoplasias for which M-NBI findings and histological findings could be compared on a one-to-one basis. The lesions were classified as absent MSPs and present MSPs based on the findings obtained using M-NBI. Of the histopathological findings for each lesion that corresponded to M-NBI findings, crypt opening densities, crypt lengths, crypt opening diameters, intercrypt distances, and crypt angles were measured and compared. Results Thirty-six lesions were included in the analysis; of these, 17 lesions exhibited absent MSP and 19 lesions exhibited present MSP. Comparing the histological measurements for absent MSPs vs. present MSPs, median crypt opening density was 0.9 crypt openings/mm vs. 4.8 crypt openings/mm (p

Abstract Objectives Distinguishing undifferentiated‐type from differentiated‐type early gastric cancers (EGC) is crucial for determining the indication of endoscopic resection. We aimed to investigate the diagnostic performance of white‐light endoscopy (WLE) and magnifying narrow‐band imaging (M‐NBI) for the histological type of EGC. Methods In this multicenter prospective study, patients with histologically proven cT1 EGC, macroscopically depressed or flat type, size ≥5 mm, and without erosion/ulcer, were recruited. The diagnostic criterion of WLE for undifferentiated‐type EGC was pale color. The M‐NBI algorithm was created based on microsurface and microvascular patterns, and lesions with absent microsurface pattern and opened‐loop microvascular patterns were diagnosed as undifferentiated‐type. The center of the lesion was defined as the evaluation point and was initially evaluated by WLE, then by M‐NBI, and a biopsy specimen was taken as a reference standard. The primary and key secondary endpoints were overall diagnostic accuracy and specificity, respectively. Results In total, 167 lesions (122 differentiated‐type and 45 undifferentiated‐type EGCs) in 167 patients were analyzed. The overall accuracy, sensitivity, specificity, and positive likelihood ratio of WLE for undifferentiated‐type cancer were 80%, 69%, 84%, and 4.4, respectively, and those of M‐NBI were 82%, 53%, 93%, and 7.2, respectively. There was no significant difference in overall accuracy (p = 0.755), but specificity was significantly higher in M‐NBI (p = 0.041). Conclusions The use of M‐NBI did not improve the accuracy of WLE for the diagnosis of depressed/flat undifferentiated‐type EGCs but improved the specificity. It may reduce surgical overtreatment by preventing misdiagnosis of differentiated‐type EGC as undifferentiated‐type.

We introduce our new image analysis method, 4-dimensional (4D)-multifusion imaging (four-phase 4D-multifusion image and dynamic 4D-multifusion image), and its clinical value in four illustrative cases of surgically treated meningiomas. In 4D-multifusion imaging, hemodynamic information from 4D-CTA was incorporated into advanced 3D images. Bone subtracted 4D-CTA volume data were divided into four phases: early arterial, late arterial, early venous, and late venous. Four-phase 4D-multifusion image was created by combining integrated vascular phase images with advanced 3D image. By subdividing the integrated vascular phase image into 10 dynamic images with gradation colors, a series of dynamic 4D-multifusion images from the initial early arterial to the last late venous phase image were displayed sequentially to simulate blood flow through the cerebral vessels. With this method, it was possible to identify the arterial feeders and their entry points into a meningioma, the pattern and distribution of tumor stain, and the drainage routes. Complicated anatomical and hemodynamic information was obtained simultaneously on freely rotated images, and pre-surgical simulation with 4D-multifusion imaging was useful for intracranial meningiomas in planning the surgical strategy and procedures including indication of a presurgical feeding artery embolization, selecting an appropriated approach route. In addition, 4D-multifusion imaging could be applicable to other hypervascular tumors and vascular lesions with arteriovenous shunts or collaterals.

Background: Morphological changes of a stented artery can cause a flow diversion effect to reduce intra-aneurysmal flow; however, there is a potential for the negative effect of increased intra-aneurysmal flow. We present cases with multiple overlapping stents for a partially thrombosed vertebral artery aneurysm and characterize the hemodynamic properties of a recurrent case by focusing on the morphological changes of the stented artery.Methods: Between October 2017 and April 2019, four consecutive cases of symptomatic unruptured large and giant partially thrombosed vertebral artery aneurysms were treated with multiple overlapping low-profile visualized intraluminal support stents and no coils. Both angiographic and clinical outcomes were assessed. Computational fluid dynamics analysis was performed to clarify hemodynamic features. The degree of pressure elevation was calculated as the pressure difference (Pd). Wall shear stress (WSS) was also calculated.Results: In three of the four cases, successful flow reduction was achieved with no morphological change of the stented arteries. The patients' symptoms were gradually improved. The remaining case required additional stents after the initial treatment. In the recurrent case, Pd was noticeably elevated at the aneurysm neck after treatment, and WSS was generally increased in the area due to altered blood flow into the aneurysm dome caused by morphological changes of the stented artery.Conclusion: Overlapping stents can be used for the treatment of large and giant thrombosed vertebral artery aneurysms with flow diversion effect; however, morphological changes of the stented artery requires careful attention as it may lead to an increase in the intra-aneurysmal flow, causing negative outcomes.

We have previously published a study on the reliable detection of 2-hydroxyglutarate (2HG) in lower-grade gliomas by magnetic resonance spectroscopy (MRS). In this short article, we re-evaluated five glioma cases originally assessed as isocitrate dehydrogenase (IDH) wildtype, which showed a high accumulation of 2HG, and were thought to be false-positives. A new primer was used for the detection of IDH2 mutation by Sanger sequencing. Adequate tissue for DNA analysis was available in 4 out of 5 cases. We found rare IDH2 mutations in two cases, with IDH2 R172W mutation in one case and IDH2 R172K mutation in another case. Both cases had very small mutant peaks, suggesting that the tumor volume was low in the tumor samples. Thus, the specificity of MRS for detecting IDH1/2 mutations was higher (81.3%) than that originally reported (72.2%). The detection of 2HG by MRS can aid in the diagnosis of rare, non-IDH1-R132H IDH1 and IDH2 mutations in gliomas.

Background and study aims White opaque substance (WOS) in gastric epithelial neoplasia is helpful for qualitative diagnosis of neoplasia. We hypothesized that WOS of neoplasia is strongly influenced by acid recovery after Helicobacter pylori eradication, similar to that of gastric intestinal metaplasia. The aim of this study was to investigate whether antacids increase the appearance of the WOS in H. pylori-eradicated neoplasia. Patients and methods A total of 38 gastric epithelial neoplasias (12 adenomas and 26 adenocarcinomas) detected after H. pylori eradication were retrospectively evaluated. Presence or absence of WOS was evaluated by magnifying endoscopy with narrow band imaging before and after antacid administration. The pH of collected gastric juice was also measured. Study endpoints were (1) prevalence of WOS in the neoplasia before and after antacid administration, and the histological difference (adenoma and adenocarcinoma); and (2) relationship between the prevalence of WOS and gastric juice pH. Results WOS prevalence increased from 0 % (0/38) to 44.8% (17/38) after antacid administration. WOS prevalence in adenomas was more significantly increased compared to that in adenocarcinomas (83.3 % vs 26.9 %, P = 0.0077). Prevalence of WOS in gastric neoplasias was only observed at neutral levels of gastric juice pH, and WOS was not observed at strong acidic levels. Conclusions Antacid administration may increase the appearance of WOS in gastric epithelial neoplasia (especially adenomas) detected after H. pylori eradication with acid recovery.

Background Hematin is a state in which hemoglobin, as petechiae, is discolored to a brown coffee color by gastric hydrochloric acid. Given the nature of hematin, a close relationship between hematin and acidity has been suggested, but has not been confirmed. We investigated the clinical significance of endoscopic finding of hematin with respect to gastric acidity. Methods A total of 501 patients were assessed for both hematin and fasting gastric juice pH by endoscopy. Endpoints were as follows: 1) the relationship between the presence of hematin and the fasting gastric juice pH; and 2) the diagnostic performance of endoscopic hematin. In addition, we performed a supplementary in vitro study to clarify the relationship between hematin formation and various acid pH levels. Results The prevalence of hematin was 31.1% (142/206), 4.6% (5/109) and 45.2% (84/186) in the H. pylori-uninfected, -infected and -eradicated groups, respectively. The mean pH of fasting gastric juice in the hematin-positive cases was significantly lower than the hematin-negative cases (mean pH 1.2, 95% confidence interval [CI] 1.1-1.3 vs. 2.7 95%CI 2.5-3.0; P<0.001). The sensitivity, specificity, positive predictive value and negative predictive value of hematin for predicting strong acidic condition (pH 1 or 2 for fasting gastric juice) were 36.0%, 98.1%, 98.7% and 29.3%, respectively. Interobserver agreement was categorized as "excellent" (k=0.88). Supplementary in vitro results showed that hematin formation was only observed at a pH=1. Conclusion Endoscopic finding of hematin represent strong gastric acidity. [ABSTRACT FROM AUTHOR]

Background: Perianeurysmal edema (PAE) has been suggested as an indicator of potential aneurysm rupture; however, the hemodynamic features of these aneurysms are still unknown. A computational fluid dynamic (CFD) analysis was performed to evaluate the hemodynamic features of a very rare case of a ruptured middle cerebral artery (MCA) aneurysm with PAE. Case Description: A 65-year-old woman presented with disturbed consciousness. A subarachnoid hemorrhage due to an azygos anterior cerebral artery (ACA) aneurysm rupture was suspected. An unruptured MCA aneurysm with PAE was identified in the left temporal lobe. Although the ACA aneurysm was clipped to prevent rebleeding, the MCA aneurysm subsequently ruptured 6 days later. Clipping of the MCA aneurysm was performed, and hemosiderin deposits suggestive of sentinel bleeding were found on the surface of the aneurysm dome. CFD analysis revealed unstable hemodynamic stress at the expanded bleb area after rupture, localized to the rupture site. Moreover, this analysis revealed flow impingement with pressure elevation and low wall shear stress, which indicated increased inflammation and aneurysm wall thinning that likely led to rupture. Conclusion: Hemosiderin deposits at the aneurysm wall and PAE indicates leakage from a cerebral aneurysm. Hemodynamic stress at the aneurysm may promote an inflammatory response and lead to wall weakening accompanied by PAE. Based on our findings, we recommend that surgical intervention should be considered as the first line of treatment for such aneurysms to prevent rupture. [ABSTRACT FROM AUTHOR]

Various phenacenes possessing chrysene, picene, and fulminene frameworks were prepared by using a continuous-flow synthetic protocol in which Wittig reaction affording diarylethenes and their Mallory photocyclization producing phenacene skeletons were sequentially performed. The Wittig reaction solution, containing the diarylethene obtained from an arylaldehyde and an arylmethyltriphenylphosphonium salt, was mixed with an iodine solution in the flow system and, subsequently, the solution was subjected to the photoreaction. Desired phenacenes were obtained with high to moderate chemical yield. For the present protocol, isolation of the intermediary diarylethene, which is the key precursor of the phenacene, is unnecessary. The approach provides a convenient method to supply a variety of phenacene samples, which are needed for initial systematic surveys in material science. [ABSTRACT FROM AUTHOR]