Neuropathology : official journal of the Japanese Society of Neuropathology 2021年7月
Primary central nervous system lymphomas (PCNSLs) rarely exhibit intratumoral hemorrhage. The differential diagnosis of hemorrhagic neoplasms of the central nervous system (CNS) currently includes metastatic carcinomas, melanomas, choriocarcinomas...
The CIC-DUX4 translocation is the most common genetic alteration of small round cell sarcomas without EWSR1 rearrangement. These "Ewing-like sarcomas" usually occur in peripheral soft tissues, and rare primary central nervous system (CNS) tumors h...
Pathology international 69(6) 372-377 2019年6月 [査読有り]
Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low-grade...
Vanessa Y Ruiz   Corinne E Praska   Georgina Armstrong   Thomas M Kollmeyer   Seiji Yamada   Paul A Decker   Matthew L Kosel   Jeanette E Eckel-Passow   Daniel H Lachance   Matthew N Bainbridge   Beatrice S Melin   Melissa L Bondy   Robert B Jenkins   
Neuro-oncology 20(6) 810-817 2018年5月 [査読有り]
Background: Single-gene mutation syndromes account for some familial glioma (FG); however, they make up only a small fraction of glioma families. Gliomas can be classified into 3 major molecular subtypes based on isocitrate dehydrogenase (IDH) mut...
Pleomorphic xanthoastrocytoma (PXA) is a rare localized glioma characterized by frequent BRAF V600E mutation and CDKN2A/B deletion. We explored the association of copy-number variants (CNVs) with BRAF mutations, tumor grade, and patient survival i...
Neuropathology : official journal of the Japanese Society of Neuropathology 37(4) 335-340 2017年8月 [査読有り]
Dentatorubral-pallidoluysian atrophy (DRPLA), one of the polyglutamine diseases, has not been reported in combination with ganglioglioma (GG). Herein, we report an autopsy case of a 72-year-old man with DRPLA with a small GG component harboring ne...
Seiji Yamada   Christopher P Wood   Jawad A Shah   Jonathan Vida   Joseph E Parisi   Mark E Jentoft   
Neuropathology : official journal of the Japanese Society of Neuropathology 36(5) 480-484 2016年10月 [査読有り]
Hypothalamic hamartomas are rare tumors that typically present in childhood, often with gelastic seizures, precocious puberty, or as a manifestation of Pallister-Hall syndrome. Neurofibrillary tangles are cytoplasmic aggregates of hyperphosphoryla...
Seiji Yamada   Benjamin R Kipp   Jesse S Voss   Caterina Giannini   Aditya Raghunathan   
The American journal of surgical pathology 40(2) 279-84 2016年2月 [査読有り]
Pleomorphic xanthoastrocytoma (PXA) has rarely been reported in combination with infiltrating glioma, historically interpreted as a "collision tumor." Isocitrate dehydrogenase 1 (IDH1) and BRAF V600E mutations are usually not concurrent. The forme...