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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/29314300/low-grade-fibromyxoid-sarcoma-arising-within-the-median-nerve
#1
Amy A Swanson, Caterina Giannini, Andrew L Folpe, Daniel L Van Dyke, Kimberly K Amrami, William A Michalak, Rachael A Vaubel
We report a case of low-grade fibromyxoid sarcoma arising within the median nerve. A 31-year-old woman presented with symptoms of carpal tunnel syndrome and an enlarging mass in her right palm over 1 year. MRI demonstrated a mass associated with the right median nerve with solid and cystic components. At surgery, the mass was located within the epineurium, could be bluntly dissected from the nerve fascicles, and was suspected to be a schwannoma. A 3.4 cm, tan-pink, glistening, smooth, homogenous mass was submitted to pathology...
January 3, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29282774/adult-moyamoya-disease-associated-with-abundant-phosphorylated-tau-accumulation-in-the-brainstem-report-of-a-case-with-autopsy-findings
#2
Koichi Okamoto, Isao Naito, Toshio Fukuda, Keiji Suzuki, Masamitsu Takatama
We report the case of a 72-year-old Japanese woman with moyamoya disease (MMD). She experienced her first intracerebral hemorrhage (ICH) at the age of 32 years, and had nine ICHs and/or intraventricular hemorrhages during the following 40 years. Cerebral angiograms and vascular pathologies at autopsy confirmed that the patient suffered from MMD. Macroscopically, there were brown-colored changes in the subarachnoid space, mainly at the base of the brain and around the cerebellar hemispheres. Microscopically, hemosiderin deposits were observed mainly in the old hemorrhagic lesions and on the surface of the brainstem and cerebellum...
December 27, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29271065/atypical-teratoid-rhabdoid-tumor-with-retained-ini1-smarcb1-expression-and-loss-of-brg1-smarca4
#3
Christine Bookhout, Thomas W Bouldin, David W Ellison
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly aggressive malignancy of the central nervous system (CNS) usually diagnosed in infancy or childhood, most often characterized by loss of expression of the SMARCB1 gene product integrase interactor 1 (INI1) protein. We report a case of AT/RT in a 3 month old boy with retained expression of INI1 by immunohistochemistry. Additional testing demonstrated loss of expression of the SMARCA4 gene product Brahma-related gene 1 (BRG1) protein by immunohistochemistry, confirmed by next generation sequencing showing a nonsense mutation in SMARCA4...
December 21, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29271018/sellar-and-suprasellar-granular-cell-tumor-of-the-neurohypophysis-a-rare-case-report-and-review-of-the-literature
#4
Biying Jiang, Xiuying Shi, Chuifeng Fan
Granular cell tumors of the neurohypophysis are rare tumors with a WHO grade of I. Symptomatic tumors are even more rare. In this case, we present a 50-year-old patient with a sellar and suprasellar granular cell tumor of the neurohypophysis, who reported headaches, blurred vision and unsteady gait. CT imaging showed a sellar and suprasellar mass approximately 2.9 cm in diameter with clear boundaries. Histologically, the tumor lacked any obvious atypia and contained densely arranged polygonal tumor cells with abundant granular eosinophilic cytoplasm...
December 21, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29271010/impact-of-a-novel-biomarker-t-lak-cell-originating-protein-kinase-topk-expression-on-outcome-in-malignant-glioma
#5
Tomohide Hayashi, Yumiko Hayakawa, Masaki Koh, Takahiro Tomita, Shoichi Nagai, Daina Kashiwazaki, Michiya Sugimori, Hideki Origasa, Satoshi Kuroda
This study aimed to evaluate the biological features of T-lymphokine-activated killer cell-originating protein kinase (TOPK) in vitro and to assess clinical impact of TOPK on the outcome in patients with malignant glioma. TOPK protein level and TOPK mRNA and protein levels in six glioma cell lines were examined using Western blot and reverse transcription-polymerase chain reaction (RT-PCR), respectively. Immunohistochemistry was performed to examine their subcellular localization of TOPK. Using surgical specimens from 57 patients with gliomas, TOPK and Ki-67 expressions were examined by immunohistochemistry...
December 21, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29266551/postmortem-immunohistochemical-alterations-following-cerebral-lesions-a-possible-pathohistological-importance-of-the-%C3%AE-dystroglycan-immunoreactivity
#6
Dávid Szöllősi, László Tóth, Mihály Kálmán
The frequency of cerebrovascular injuries raises the importance of their immunohistological investigation in postmortem materials. Most injuries involve the impairment of the blood-brain barrier. The barrier is maintained by the glio-vascular connections which break up following injuries. Some immunohistochemical alterations may refer to the impairment of the gliovascular connections. Laminin and the components of the dystroglycan complex show characteristic immunohistochemical alterations following various experimental injuries (stab wound, cryogenic lesion, arterial occlusions): immunoreactivity of β-dystroglycan, α-dystrobrevin and aquaporin 4 disappeared while that of utrophin and laminin appeared along the vessels, whereas α-syntrophin visualized the reactive astrocytes but not the resting ones...
December 20, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29266441/strictly-hypoxic-ischemic-encephalopathy
#7
LETTER
Riki Okeda
No abstract text is available yet for this article.
December 20, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29250844/intractable-epilepsy-due-to-a-rosette-forming-glioneuronal-tumor-with-a-dysembryoplastic-neuroepithelial-background
#8
Noriko Sumitomo, Akihiko Ishiyama, Makoto Shibuya, Eiji Nakagawa, Yu Kaneko, Akio Takahashi, Taisuke Otsuki, Akiyoshi Kakita, Yuko Saito, Noriko Sato, Kenji Sugai, Masayuki Sasaki
A rosette-forming glioneuronal tumor (RGNT) was initially reported as an infratentorial tumor that comprised both small neurocytic rosettes and astrocytic components. However, a few studies have reported supratentorial RGNTs arising in the cerebral hemispheres. Here, we report an unusual case involving a 9-year-old boy with a supratentorial RGNT who presented with intractable epilepsy and behavioral changes. Brain MRI revealed a well-circumscribed space-occupying lesion with septae in the right inferomedial parietal lobe...
December 18, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29250829/low-bilirubin-kernicterus-in-otc-deficiency
#9
LETTER
Jon F Watchko
No abstract text is available yet for this article.
December 18, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29250826/enhanced-neurogenesis-and-possible-synaptic-reorganization-in-the-piriform-cortex-of-adult-rat-following-kainic-acid-induced-status-epilepticus
#10
Masashi Sakurai, Hiroko Suzuki, Nagi Tomita, Yuji Sunden, Akinori Shimada, Hajime Miyata, Takehito Morita
Epileptic seizure has been reported to enhance adult neurogenesis and induce aberrant synaptic reorganization in the human dentate gyrus in the hippocampal formation. However, adult neurogenesis in the extrahippocampal regions has not been well studied. To investigate seizure-enhanced neurogenesis in the extrahippocampal regions, we performed histological and immunohistochemical as well as western blot analyses on the cerebrum of Sprague-Dawley rats (n = 51, male, 7 weeks old, body weight 250-300 g) treated with intraperitoneal injection of kainic acid (KA, 10 mg/kg) to induce status epilepticus (SE) (n = 36) or normal saline solution (n = 15) followed by 5'-bromo-2-deoxyuridine (BrdU) injection to label newborn cells...
December 18, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29226425/intraventricular-melanocytoma-diagnosis-confirmed-by-gene-mutation-profile
#11
Ulrich J Knappe, Iris Tischoff, Andrea Tannapfel, Wolf-Dieter Reinbold, Inga Möller, Antje Sucker, Dirk Schadendorf, Klaus G Griewank, Johannes A P van de Nes
Primary leptomeningeal melanocytic tumors (PLMTs) are rare. They usually arise along the spinal cord and at the skull base. Here we report on a patient with a very rare intraventricular melanocytoma. Histologically, a melanocytic tumor was clearly diagnosed. However, to make the uncommon diagnosis of an intraventricular melanocytoma, metastatic melanoma needed to be excluded. Next generation sequencing covering gene mutations that may occur in PLMTs and cutaneous melanoma was performed. The unique gene mutation profile detected, consisting of an activating CYSLTR2 L129Q mutation and EIF1AX G9R mutation and a lack of mutations in genes known to occur in metastatic melanoma (i...
December 11, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29218765/deregulation-of-autophagy-in-postmortem-brains-of-machado-joseph-disease-patients
#12
Annie Sittler, Marie-Paule Muriel, Martina Marinello, Alexis Brice, Wilfred den Dunnen, Sandro Alves
Autophagy, the major pathway for protein turnover, is critical to maintain cellular homeostasis and has been implicated in neurodegenerative diseases. The aim of this research was to analyze the expression of autophagy markers in postmortem brains from Machado-Joseph disease (MJD) patients. The expression of autophagy markers in the cerebellum and the oculomotor nucleus from MJD patients and age-matched controls with no signs of neuropathology was inspected postmortem by immunohistochemistry (IHC) and Western blot...
December 8, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29139157/seronegative-granulomatosis-with-polyangiitis-presenting-with-multiple-cranial-nerve-palsies
#13
Eunhye Lee, Jynkyun Park, Seung Hong Choi, Sung-Hye Park
Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis (WG), is a rare systemic disease characterized by necrotizing granulomas and vasculitis that usually presents in the respiratory tract and renal system. Here, we report a case of anti-neutrophil cytoplasmic antibody (ANCA)-negative GPA with diagnostic difficulties. Neurologic involvement in GPA is not uncommon, with up to 50% of patients manifesting with neurologic defects; however, it is usually a late event. This patient was a 50-year-old man whose first manifestation was multiple neurologic defects without respiratory or renal symptoms...
November 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29139152/giant-intracranial-arteriovenous-malformation-as-the-focus-of-epileptic-seizures
#14
Mio Takayama, Kenji Hara, Aya Matsusue, Brian Waters, Natsuki Ikematsu, Masayuki Kashiwagi, Shin-Ichi Kubo
A man in his late thirties was found in a supine position in the hallway of his house. He had been diagnosed with epilepsy at approximately 20 years old. Since stopping treatment, epileptic events occurred more frequently and his condition deteriorated in the past 2 years. Autopsy revealed that head injuries were found on the left side of his head. A fracture from the left parietal bone to the anterior cranial fossa was also detected. A subdural hemorrhage (hematoma) spanned a wide range. A subarachnoid hemorrhage was also identified in the left parietal region...
November 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29110334/frontotemporal-dementia-with-trans-activation-response-dna-binding-protein-43-presenting-with-catatonic-syndrome
#15
Ryohei Watanabe, Ito Kawakami, Mitsumoto Onaya, Shinji Higashi, Nobutaka Arai, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
Catatonia is a clinical syndrome characterized by symptoms such as immobility, mutism, stupor, stereotypy, echophenomena, catalepsy, automatic obedience, posturing, negativism, gegenhalten and ambitendency. This syndrome occurs mostly in mood disorder and schizophrenic patients, and is related to neuronal dysfunction involving the frontal lobe. Some cases of frontotemporal dementia (FTD) with catatonia have been reported, but these cases were not examined by autopsy. Here, we report on a FTD case which showed catatonia after the first episode of brief psychotic disorder...
November 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29110337/pituitary-atypical-teratoid-rhabdoid-tumor-in-a-patient-with-prolactinoma-a-unique-description
#16
Valeria Barresi, Simona Lionti, Alessandro Raso, Felice Esposito, Salvatore Cannavò, Filippo F Angileri
Atypical teratoid rhabdoid tumor (ATRT) is an aggressive tumor of the CNS and characteristically occurs in the pediatric age. In adulthood, ATRT is rare and it is mainly localized in the cerebral hemispheres. Only 16 cases of ATRT have been described in the sellar region up to now. Interestingly, all sellar ATRTs occurred in adult female patients. Herein we report a novel case of sellar ATRT in a patient with previous history of lactotroph adenoma. Similar to other sellar ATRTs, this case occurred in a female adult patient...
November 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29105852/frontotemporal-lobar-degeneration-due-to-p301l-tau-mutation-showing-apathy-and-severe-frontal-atrophy-but-lacking-other-behavioral-changes-a-case-report-and-literature-review
#17
Tomoko Miki, Osamu Yokota, Shintaro Takenoshita, Yoko Mori, Kiyohiro Yamazaki, Yuki Ozaki, Shu-Ichi Ueno, Takashi Haraguchi, Hideki Ishizu, Shigetoshi Kuroda, Seishi Terada, Norihito Yamada
The clinical features in cases that have mutations in the microtubule-associated protein tau gene but lack prominent behavioral changes remain unclear. Here, we describe detailed clinical and pathological features of a case carrying the P301L tau mutation that showed only apathy until the middle stage of the course. The mother of this case was suspected to have mild cognitive decline at age 46. However, before she was fully examined, she had a subarachnoid hemorrhage at age 49 and died at age 53. An autopsy was not done...
November 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29067721/the-perivascular-microenvironment-in-epstein-barr-virus-positive-primary-central-nervous-system-lymphoma-the-role-of-programmed-cell-death-1-and-programmed-cell-death-ligand-1
#18
Yasuo Sugita, Takuya Furuta, Koichi Ohshima, Satoru Komaki, Junko Miyoshi, Motohiro Morioka, Hideyuki Abe, Takanori Nozawa, Yukihiko Fujii, Hitoshi Takahashi, Akiyoshi Kakita
It has been shown that high expression of certain immune checkpoint molecules, including those of the programmed death protein 1/programmed death ligand 1 (PD-1/PD-L1) axis, can be utilized to regulate immunosuppression in the microenvironment of malignant neoplasms. For the purpose of clarifying the immune-escape mechanism of primary central nervous system lymphomas (PCNSLs), particularly in Epstein-Barr virus (EBV)-positive cases, markers for PD-1, PD-L1, tumor-associated macrophages (TAMs), and tumor-infiltrating lymphocytes (TILs) in 39 surgical specimens of PCNSLs (17 EBV-positive, 22 EBV-negative) were investigated by immunohistochemistry...
October 24, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29063643/primary-central-nervous-system-extranodal-nasal-type-natural-killer-t-cell-lymphoma-with-cd20-expression
#19
Dujuan Li, Fangfang Fu, Lifei Lian
We report a unique case of primary CNS extranodal natural killer/T-cell lymphoma (PCNS ENKTCL) with CD20 expression and the monoclonal rearrangement of Ig heavey chain (IgH) gene. Resection specimens were evaluated using HE-stained sections, immunohistochemistry, in situ hybridization and PCR. Histopathologic examination, immunohistochemistry and molecular studies showed the intermediate-sized lymphoma cells expressing CD2, CD3ε, granzyme B, TIA-1, CD20 and Epstein-Barr virus-encoded RNA, with germline T-cell receptor gene and the monoclonal rearrangement of IgH gene...
October 24, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29063640/amyotrophic-lateral-sclerosis-and-parkinsonism-dementia-complex-of-the-hohara-focus-of-the-kii-peninsula-a-multiple-proteinopathy
#20
REVIEW
Maya Mimuro, Mari Yoshida, Shigeki Kuzuhara, Yasumasa Kokubo
The high incidence of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia complex (PDC) has been previously known in the Kii Peninsula of Japan and in Guam. Recently, the accumulation of various proteins, such as tau, trans-activation response DNA binding protein 43 kDa (TDP-43), and alpha-synuclein (αSyn), was reported in the brains of patients with ALS/PDC in Guam. To confirm whether similar findings are present in Kii ALS/PDC, we neuropathologically examined the brains and spinal cords of 18 patients with ALS/PDC (clinical diagnoses: eight ALS and 10 PDC) in Hohara Village, which is the eastern focus of Kii ALS...
October 23, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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