Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

横紋筋肉腫におけるゲノム・エピゲノム異常の全体図を解明 -横紋筋肉腫を4群に分類-. 京都大学プレスリリース. 2015-07-03.Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Here we studied 60 RMSs using whole-exome/-transcriptome sequencing, copy number (CN) and DNA methylome analyses to unravel the genetic/epigenetic basis of RMS. On the basis of methylation patterns, RMS is clustered into four distinct subtypes, which exhibits remarkable correlation with mutation/CN profiles, histological phenotypes and clinical behaviours. A1 and A2 subtypes, especially A1, largely correspond to alveolar histology with frequent PAX3/7 fusions and alterations in cell cycle regulators. In contrast, mostly showing embryonal histology, both E1 and E2 subtypes are characterized by high frequency of CN alterations and/or allelic imbalances, FGFR4/RAS/AKT pathway mutations and PTEN mutations/methylation and in E2, also by p53 inactivation. Despite the better prognosis of embryonal RMS, patients in the E2 are likely to have a poor prognosis. Our results highlight the close relationships of the methylation status and gene mutations with the biological behaviour in RMS

Subserosal Inflammatory Pseudotumor Causing Intussusception

We present an adult case of intussusception caused by subserosal inflammatory pseudotumor of the terminal ileum. Enteric intussusception was diagnosed by characteristic Xray finding, so called "beak-like" filling defect in the terminal ileum. An exploratory laparotomy revealed focal subserosal thickening in the terminal ileum, and partial ileocolectomy was performed. Microscopically, we identified a pseudotumor that extended through the muscularis propria into serosa. The pseudotumor was composed of fibrous stroma and chronic inflammatory cells with calcification

Subserosal Inflammatory Pseudotumor Causing Intussusception

We present an adult case of intussusception caused by subserosal inflammatory pseudotumor of the terminal ileum. Enteric intussusception was diagnosed by characteristic Xray finding, so called "beak-like" filling defect in the terminal ileum. An exploratory laparotomy revealed focal subserosal thickening in the terminal ileum, and partial ileocolectomy was performed. Microscopically, we identified a pseudotumor that extended through the muscularis propria into serosa. The pseudotumor was composed of fibrous stroma and chronic inflammatory cells with calcification

J-PARC hadron experimental facility extension project

The J-PARC Hadron Experimental Facility was constructed with an aim to explore the origin and evolution of matter in the universe through experiments with intense particle beams. In the past decade, many results from particle and nuclear physics experiments have been obtained at the present facility. To expand the physics programs to as yet unexplored regions, the extension project of the Hadron Experimental Facility has been extensively discussed. This contribution presents the physics of the extension of the Hadron Experimental Facility to resolve issues related to strangeness nuclear physics, hadron physics, and flavor physics