Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations.
We report a histomolecular analysis of pure cerebellar high grade gliomas. The histomolecular profile appears to be different from that of supratentorial gliomas, with no IDH1/2 gene mutations and only 1 case with a classic profile of de novo glioblastoma. In 2 cases, we identified H3F3A K27M mutation, classically described in pediatric midline gliomas.
. PMID: 29809131 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 29, 2018 Category: Pathology Authors: Tauziède-Espariat A, Saffroy R, Pagès M, Pallud J, Legrand L, Besnard A, Lacombe J, Lot G, Borha A, Tazi S, Adle-Biassette H, Polivka M, Lechapt E, Varlet P Tags: Clin Neuropathol Source Type: research

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.
Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis. Clin Neuropathol. 2018 May 24;: Authors: Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A PMID: 29792396 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 24, 2018 Category: Pathology Authors: Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A Tags: Clin Neuropathol Source Type: research

Joint meeting: 54th Congress of the Italian Association of Neuropathology and Clinical Neurobiology (AINPeNC) 44th Congress of the Italian Association for Cerebral Aging Research (AIRIC).
Abstract Milan, Italy, May 17 - 19, 2018 Presidents: Giorgio Giaccone and Gianluigi Forloni Organizing Committee: T. Cavallaro, G. Cenacchi, F. Fusco, P.L. Poliani, G. Puoti, L. Pradotto, D. Albani, O. Bugiani, A.M. Confaloni, M. Gallucci, A. Guaita, A. Panaccione, and E. Scarpini Scientific Committee: AINPeNC and AIRIC Board. PMID: 29722647 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 3, 2018 Category: Pathology Authors: Giaccone G, Forloni G Tags: Clin Neuropathol Source Type: research

In memoriam Werner Rosenthal (1870 - 1942).
PMID: 29701168 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - April 27, 2018 Category: Pathology Authors: Goebel HH Tags: Clin Neuropathol Source Type: research

A newly diagnosed case of polymorphous low-grade neuroepithelial tumor of the young.
Abstract Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described variant of low-grade neuroepithelial tumors that exhibits infiltrative growth, histopathological variability with frequently prominent oligodendroglioma-like components, intense labeling for CD34, absence of 1P/19Q codeletion, a distinct DNA methylation signature and genetic alterations involving MAP kinase pathway constituents of either the B-Raf proto-oncogene BRAF or fibroblast growth factor receptors 2 or 3 (FGFR2 and FGFR3). We here report a newly diagnosed case of PLNTY involving the temporal lobe in a 31-year-...
Source: Clinical Neuropathology - April 27, 2018 Category: Pathology Authors: Bitar M, Danish SF, Rosenblum MK Tags: Clin Neuropathol Source Type: research

Focal myositis with neurogenic atrophy: Case report and review of the literature.
We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. He had otherwise no weakness complaints. Physical and neurological examinations were otherwise normal. Creatine kinase and aldolase levels were increased (1,009 U/L and 11.9 U/L, respectively); autoimmunity panel was negative. MRI showed diffuse edema and gadolinium enhancement of muscles innervated by the median nerve. EMG revealed repetitive complex discharges and patterns of continuous muscular activity. The mass w...
Source: Clinical Neuropathology - April 9, 2018 Category: Pathology Authors: Fitas D, Monteiro A, Silveira F, Castro L, Carpenter S, Nadais G Tags: Clin Neuropathol Source Type: research

Absence of 1p/19q codeletion in oligodendroglioma-like areas of pilocytic astrocytomas.
This study aims to determine if the oligodendroglioma-like areas present in some pilocytic astrocytomas (PA) possess the signature 1p/19q codeletion that is characteristic of classical oligodendroglioma. Array comparative genomic hybridization was carried out on 12 PA samples, from which oligodendroglioma-like areas were microdissected and used as the template DNA source. 1p/19q codeletions were not found in any of the oligodendroglioma areas in PAs. We conclude that PAs with oligodendroglioma-like areas do not share the same molecular genetics as classic oligodendroglioma.
. PMID: 29595124 [PubMed - as supplied by ...
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Frazer B, Kearney H, Cryan J, Beausang A, Brett F, Farrell MA, Buckley PG Tags: Clin Neuropathol Source Type: research

A 3-year old female with an atypical pineal tumor.
PMID: 29595125 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Kearney H, Beausang A Tags: Clin Neuropathol Source Type: research

The legacy of retinoblastoma: Three unusual tumors in a woman with a history of heritable retinoblastoma - a case report.
PMID: 29595126 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Aizpurua M, Chandler C, Jarosz J, Zerrin O, Thway K, Fisher C, King A Tags: Clin Neuropathol Source Type: research

The Dejerine Foundation.
PMID: 29578395 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 26, 2018 Category: Pathology Authors: Mikol J, Seilhean D Tags: Clin Neuropathol Source Type: research

Calf muscle hypertrophy following S1 radiculopathy: A stress disorder caused by hyperactivity with variable response to treatmen.
ssi A PMID: 29451471 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 16, 2018 Category: Pathology Authors: Volpi N, Ginanneschi F, Cerase A, Carbone SF, Aglianò M, Lorenzoni P, Bellini M, Bartalini S, Di Pietro G, Rossi A Tags: Clin Neuropathol Source Type: research

Teaching Case 2-2018: Sclerosing myxopapillary ependymoma mimicking whorling-sclerosing meningioma.
PMID: 29436365 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 13, 2018 Category: Pathology Authors: Lang J, Czech T, Slavc I, Reisinger D, Bartsch S, Hainfellner JA, Haberler C, Gelpi E Tags: Clin Neuropathol Source Type: research

Reactive gliosis mimicking tumor recurrence - a case series documenting MRI abnormalities and neuropathological correlates.
This study highlights the difficulty in radiologically diagnosing a foreign-body reaction and also identifies that such a gliotic reaction may occur as a consequence of exogenous materials used in a craniotomy or cranioplasty.
. PMID: 29424334 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 9, 2018 Category: Pathology Authors: Kearney H, Cryan J, Beausung A, Looby S, Brett FM Tags: Clin Neuropathol Source Type: research

H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis.
CONCLUSION: H3 K27M-mutant tumors can affect patients at advanced ages, may show leptomeningeal dissemination at time of presentation, and "pure" GG or PA morphology is not rare. Regardless of patient age or tumor morphology, patients fare equally poorly.
. PMID: 29393845 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 2, 2018 Category: Pathology Authors: Kleinschmidt-DeMasters BK, Mulcahy Levy JM Tags: Clin Neuropathol Source Type: research

Atypical lower motor neuron disease with enlargement of Nissl substance: Report of an autopsy case.
Abstract The patient was an 81-year-old woman diagnosed with atypical motor neuron disease who died after a long clinical course (7.5 years without mechanical assistance of ventilation) characterized by lower motor neuron signs and symptoms. Upper motor neuron signs and cognitive impairment were not apparent. Autopsy demonstrated severe neuronal loss in the anterior horn of the spinal cord, and some of the remaining neurons showed enlargement of Nissl substance and apparent thickening of the nuclear envelopes. No Bunina bodies, skein-like inclusions, or structures immunoreactive for phosphorylated transactiva...
Source: Clinical Neuropathology - January 19, 2018 Category: Pathology Authors: Shintaku M, Kaneda D, Oyanagi K Tags: Clin Neuropathol Source Type: research

The DNA copy number landscape of a collision tumor.
Abstract Intracranial collision tumors are composed of two histologically distinct but merging components, and are rare. Their genetic profile has rarely been described. Comparative genome hybridization of a combined meningioma and oligodendroglioma demonstrated deletion of chromosome 22q and of 19q in both tumors. Somatic deletion of chromosome 22q and 19q is associated with development of an intracranial collision tumor.
. PMID: 29350171 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 19, 2018 Category: Pathology Authors: Kearney H, Cryan JB, Looby S, Brett FM, Farrell MA, Buckley PG Tags: Clin Neuropathol Source Type: research

Presence of apoptosis distinguishes primary central nervous system lymphoma from glioblastoma during intraoperative consultation.
CONCLUSION: The presence of apoptosis was effective for the intraoperative diagnosis of PCNSL compared to GM.
. PMID: 29336777 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 16, 2018 Category: Pathology Authors: Cha YJ, Choi J, Kim SH Tags: Clin Neuropathol Source Type: research

Spatiotemporal evolution of a low-grade glioma with divergent oligodendroglial and astrocytic lineages.
PMID: 29319489 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 10, 2018 Category: Pathology Authors: Roetzer T, Kitzwoegerer M, Heinz G, Oberndorfer S, Marhold F, Hainfellner JA, Woehrer A Tags: Clin Neuropathol Source Type: research

Primary intracranial leiomyoma in an immunocompetent patient.
PMID: 29319490 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 10, 2018 Category: Pathology Authors: Alvarez R, Schild M, Cummings TJ Tags: Clin Neuropathol Source Type: research

Cerebral pseudotumor as the first manifestation of POEMS syndrome: A case report.
PMID: 29319491 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 10, 2018 Category: Pathology Authors: Benyamine A, Delteil C, Macagno N, Belenotti P, Dussol B, Girard N, Weiller PJ, Granel B, Daniel L Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology image 1-2018: Golgi silver staining, the black reaction.
PMID: 29249227 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 18, 2017 Category: Pathology Authors: Mariotto S, Bentivoglio M, Cotrufo T, Berzero A, Monaco S, Mazzarello P, Ferrari S Tags: Clin Neuropathol Source Type: research

Intrasellar cavernous hemangioma presenting as pituitary adenoma: A report of two cases and review of the literature.
We report two cases of recurrent sellar lesions, both of which were clinically suspected of being pituitary adenomas but histologically confirmed as cavernous hemangiomas. The first case is of a 67-year-old female whose initial resection was diagnosed as "venous angioma". Neuroimaging performed 27 years later demonstrated significant growth of the lesion involving the right cavernous sinus and encasing the right internal carotid artery. The patient then underwent transsphenoidal endoscopic resection of the mass. At the time of the surgery, the lesion was noted to be quite vascular. The second case is a 48-year-ol...
Source: Clinical Neuropathology - November 30, 2017 Category: Pathology Authors: Das S, Ang LC, Ramsay D Tags: Clin Neuropathol Source Type: research

Letter to the editor.
PMID: 29189200 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - November 30, 2017 Category: Pathology Authors: Prayson BE, Prayson RA Tags: Clin Neuropathol Source Type: research

Mitogen-activated protein kinase in gliosis and pilocytic astrocytoma.
Abstract Pilocytic astrocytoma (PA), featuring activation of the mitogen-activated protein kinase (MAPK) pathway, is the most common tumor of the pediatric central nervous system. However, it remains unknown whether MAPK activation is present in the reactive gliosis of non-neoplastic lesions. Therefore, we investigated the expression of MAPK in reactive gliosis associated with cavernous angiomas. Immunohistochemical expression and the extent of BRAF, ERK, p38, and JNK were investigated in 10 patients with gliosis surrounding cavernous angiomas (GS group) and 10 patients with PA (PA group). Evaluation of these para...
Source: Clinical Neuropathology - November 23, 2017 Category: Pathology Authors: Takeuchi H, Neishi H, Higashino Y, Kitai R, Kikuta KI, Imamura Y Tags: Clin Neuropathol Source Type: research

The etiology of spontaneous intracerebralhemorrhage: Insights from a neuropathological series.
es MM Abstract The etiology of intracerebral hemorrhage (ICH) is frequently undetermined. We aimed to assess the impact of the neuropathological study on the etiologic diagnosis of ICH. Patients with ICH admitted to a tertiary hospital in the last 14 years were identified, and histological samples of surgically-drained ICH were retrieved. Blinded from neuropathological results, a clinical etiology was hypothesized. Pathological samples were reviewed, and immunohistochemistry study for β-amyloid was performed in all the cases where structural abnormalities were not identified. From 2002 - 2016, 113 patien...
Source: Clinical Neuropathology - November 20, 2017 Category: Pathology Authors: Ruano L, Branco M, Samões R, Taipa R, Pires MM Tags: Clin Neuropathol Source Type: research

Idiopathic inflammatory myopathies overlapping with systemic diseases.
Abstract A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly defined, and the aim of the present review is to clarify the contribution of muscle biopsy in a setting of idiopathic inflammatory myopathies overlapping with systemic diseases.
. PMID: 29154752 [PubMed - as s...
Source: Clinical Neuropathology - November 20, 2017 Category: Pathology Authors: Lepreux S, Hainfellner JA, Vital A Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology 6-2017.
PMID: 29065975 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 25, 2017 Category: Pathology Authors: Hainfellner JA Tags: Clin Neuropathol Source Type: research

Brain tumor epidemiology in the era of precision medicine: The 2017 Brain Tumor Epidemiology Consortium meeting report.
Abstract The Brain Tumor Epidemiology Consortium (BTEC) is an international consortium that aims to advance the development of multicenter and interdisciplinary collaborations that focus on research related to the etiology, outcomes, and prevention of brain tumors. The 18th annual BTEC meeting was held in Banff, AB, Canada, on June 27 - 29, 2017. The meeting focused on the intersection between epidemiology and precision medicine, that is, the use of molecular indicators of risk, early disease and prognosis or precision epidemiology. While traditional epidemiologic approaches group large numbers of partic...
Source: Clinical Neuropathology - October 16, 2017 Category: Pathology Authors: Johnson KJ, Schwartzbaum J, Kruchko C, Scheurer ME, Lau CC, Woehrer A, Hainfellner JA, Wiemels J Tags: Clin Neuropathol Source Type: research

IDH-mutant giant cell glioblastoma: A neglected tumor variant?
PMID: 29035191 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 16, 2017 Category: Pathology Authors: Leske H, Brandal P, Rushing EJ, Niehusmann P Tags: Clin Neuropathol Source Type: research

Bacillus cereus bacteremia with central nervous system involvement: A neuropathological study.
This study highlights the clinical challenge to diagnose B. cereus and the importance of the delay between the detection of B. cereus and the initiation of an effective targeted antibiotic therapy. This case presented an aggressive evolution with multiple necrotic and hemorrhagic foci in the brain. Upon histological examination, B. cereus virulence was notably reflected by the dissection of blood vessel walls by the bacilli and luminal occlusion, a pattern that has not been yet reported.
. PMID: 29035192 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 16, 2017 Category: Pathology Authors: Brouland JP, Sala N, Tusgul S, Rebecchini C, Kovari E Tags: Clin Neuropathol Source Type: research

The first report of human primary thoracic spine mast cell sarcoma: a case report.
In this report, we present a 53-year-old woman with primary mast cell sarcoma of the thoracic spine vertebrae. Mast cell sarcoma is an aggressive and rare cancer. To date, no cases of primary mast cell sarcoma have been reported in the spinal vertebrae. The patient initially presented with a 1-month history of pelvic and abdominal pain. Inconclusive gynecological evaluation resulted in a CT of the abdomen and pelvis, demonstrating a destructive lesion centered at the 11th thoracic vertebral body. The patient underwent a two-stage spine operation for T11 corpectomy and T7-L3 posterior spinal fusion. Histopathological, immun...
Source: Clinical Neuropathology - October 10, 2017 Category: Pathology Authors: Ravanpay AC, Fromm JR, Edlefsen KL, Martin P, Chesnut R Tags: Clin Neuropathol Source Type: research

Re-evaluating TTF-1 immunohistochemistry in diffuse gliomas: Expression is clonedependent and associated with tumor location.
Abstract TTF-1 is widely used as a marker in routine surgical pathology in the work-up of malignancy. Aberrant expression of TTF-1 in extrapulmonary and extrathyroidal malignancies is a frequently reported phenomenon. In addition to the recently characterized pituicyte-derived tumors of the sella, immunoreactivity has been reported in diffuse gliomas with the SPT24 clone. Here, we sought to evaluate TTF-1 expression with three commercially available clones in a large series of gliomas. Expression was compared across the newly defined diagnostic entities in the 2016 WHO Classification of CNS Tumors. Using tissue mi...
Source: Clinical Neuropathology - September 21, 2017 Category: Pathology Authors: Pratt D, Afsar N, Allgauer M, Fetsch P, Palisoc M, Pittaluga S, Quezado M Tags: Clin Neuropathol Source Type: research

Clinically-diagnosed Susac syndrome in a 50-year-old.
PMID: 28899478 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - September 7, 2017 Category: Pathology Authors: Brett FM, Looby S, Fearon C, Widdess-Walsh P Tags: Clin Neuropathol Source Type: research

Olfactory ensheathing cell tumor: a case presentation.
PMID: 28899479 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - September 7, 2017 Category: Pathology Authors: Schild MH, Harrison WT, Cummings TJ Tags: Clin Neuropathol Source Type: research

Paradoxical results obtained with Ki67-labeling and PHH3-mitosis index in glial tumors: a literature analysis.
Abstract Precise tiered tumor grading is essential for predicting prognosis, selecting different treatment options and for follow-up of brain tumor patients. Ki67 labeling index (LI) is widely employed in assessing aggressiveness of glial brain tumors. However, Ki67 is subject to interlaboratory variability, and its antigen is expressed on all cell cycle phases except G0, which hinders its usage as a precise criterion for assessing cell proliferation. Indeed, there exist peculiar observations pertinent to increases of Ki67 index in glial tumors following radiotherapy or treatment with tyrosine kinase inhibitors. M...
Source: Clinical Neuropathology - August 30, 2017 Category: Pathology Authors: Elmaci İ, Altinoz MA, Bolukbasi FH, Yapicier O, Sav A Tags: Clin Neuropathol Source Type: research

Amelanotic melanocytoma of the sella mimicking pituitary adenoma.
We describe a 50-year-old man with a well-demarcated intra- and extrasellar lesion and clinical signs of a non-functioning pituitary adenoma. Neuropathological examination revealed tumor composed of non-pigmented spindle cells arranged in tightly packed nests separated by delicate vascular septae. There was no significant cellular atypia or mitotic activity, and Ki67-positive nuclei were present in less than 1% of cells. The neoplastic cells were positive for S-100 and vimentin, and negative for numerous cellular markers including HMB45, anti-melanoma cocktail antibodies, and Masson melanin stain. Electron microscopy revea...
Source: Clinical Neuropathology - August 30, 2017 Category: Pathology Authors: Lach B, Reddy K, Sommer DD, Whitton AC, Baweja R Tags: Clin Neuropathol Source Type: research

Toxoplasmosis of the pituitary gland.
PMID: 28816112 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - August 17, 2017 Category: Pathology Authors: Prayson NF, Prayson RA Tags: Clin Neuropathol Source Type: research

Mixed hemangioblastoma and ependymoma collision tumor of the cerebellum.
PMID: 28766496 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - August 2, 2017 Category: Pathology Authors: Schild MH, Doane EP, Friedman AH, Cummings TJ Tags: Clin Neuropathol Source Type: research

Distribution and expression of brain-derived neurotrophic factor, nerve growth factor, and neurotrophic factor-3 in refractory epilepsy-associated focal cortical dysplasia.
CONCLUSION: Abnormal distribution and expression of BDNF, NGF, and NT-3 may play an important role in the mechanism of FCD I and FCD IIA-induced epilepsy.
. PMID: 28737124 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - July 24, 2017 Category: Pathology Authors: Wang F, Lin Y, Kang D, Chen F, Lin K, Su X Tags: Clin Neuropathol Source Type: research

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
Abstract Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart fro...
Source: Clinical Neuropathology - July 12, 2017 Category: Pathology Authors: Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology image 4-2017: High-resolution 7 Tesla MRI of postmortem brain specimens: improving neuroimaging-neuropathology correlations.
E, Soria G PMID: 28655380 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - June 28, 2017 Category: Pathology Authors: Guasp-Verdaguer M, Grau-Rivera O, Prats-Galino A, Bargalló N, Sánchez-Valle R, Gelpi E, Soria G Tags: Clin Neuropathol Source Type: research

An unusual case of a young patient with Whipple's disease involving the central nervous system.
PMID: 28502319 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 15, 2017 Category: Pathology Authors: Flanagan ME, Andeen N, Lieberman J, Freeburg J, Williams JR, Hoogestraat DR, Bryan A, Sabath DE Tags: Clin Neuropathol Source Type: research

Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity.
We present the case of a 23-year-old female patient, the fourth in the literature, speculated as having AT/RT arising within a PXA, as demonstrated by the presence of INI1 mutation. The patient presented with a short history of headache, which increased over time, and emerging seizures. She had a contrast-enhancing mass in the left temporal area demonstrated by MRI. Pathological examination demonstrated a dimorphic tumor containing a spindle-pleomorphic component reminiscent of PXA and a rhabdoid component with INI1 loss showing features of AT/RT. Both components shared the same BRAF mutation, supporting their common origi...
Source: Clinical Neuropathology - May 15, 2017 Category: Pathology Authors: Uner M, Saglam A, Meydan BC, Aslan K, Soylemezoglu F Tags: Clin Neuropathol Source Type: research

Cytomegalovirus in the human dentate gyrus and its impact on neural progenitor cells: report of two cases.
We present two cases of CMV infection of the DG of immunocompromised allogeneic stem cell transplant recipients. Both cases showed CMV-positive neurons in the DG granular cell layer, as well as contiguous layers. The majority of infected cells contained Nissl substance and expressed nestin, glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE), and neurofilament. These cases demonstrate that CMV infects the DG in humans. Co-expression of nestin and GFAP, indicative of early neurogenesis, is consistent with experimental models showing neural stem cells as the target of CMV, providing further histological evi...
Source: Clinical Neuropathology - May 15, 2017 Category: Pathology Authors: Yoon JY, Danielson B, Mathis D, Karamchandani J, Munoz DG Tags: Clin Neuropathol Source Type: research

Intraneural glomus tumor of "uncertain malignant potential" and with BRAF mutation in the median nerve - an unusual case.
Intraneural glomus tumor of "uncertain malignant potential" and with BRAF mutation in the median nerve - an unusual case. Clin Neuropathol. 2017 Apr 25;: Authors: Dahlin LB, Scherman P, Besjakov J, Lindberg E, Solomon DA, Horvai AE, Perry A Abstract A glomus tumor of uncertain malignant potential is defined as a glomus tumor with some, but not all, criteria for malignancy and without a known metastasis. Here, we present a rare example presenting in the median nerve in a 40-year-old woman with a long history of severely impaired left median nerve function. A large panel of immunohistochemical...
Source: Clinical Neuropathology - April 25, 2017 Category: Pathology Authors: Dahlin LB, Scherman P, Besjakov J, Lindberg E, Solomon DA, Horvai AE, Perry A Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology image 3-2017: CNS involvement in systemic amyloidosis restricted to the choroid plexus.
PMID: 28436370 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - April 24, 2017 Category: Pathology Authors: Gelpi E, Susani M, Wiebringhaus R, Aschauer A, Kammerlander A, Lutz MI, Hainfellner JA Tags: Clin Neuropathol Source Type: research

Coexistent venous angioma and focal cortical dysplasia.
PMID: 28427499 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - April 21, 2017 Category: Pathology Authors: Prayson RA, O'Toole EE Tags: Clin Neuropathol Source Type: research

Intraventricular ganglioglioma with extensive hemorrhage.
Abstract Gangliogliomas represent a rare form of neuroepithelial tumor (up to 1.3% of brain tumors [1]), which even more rarely present with hemorrhage or localize intraventricularly. To date, only two cases of ganglioglioma with both of these features have been reported. Our patient is a 23-year-old woman who presented with signs and symptoms of increased intracranial pressure (ICPI), with a post-subtotal resection diagnosis of WHO Grade I ganglioglioma localizing bilaterally to the lateral ventricles. One year following the operation, the tumor showed radiologic evidence of interval hemorrhage, which was verifie...
Source: Clinical Neuropathology - April 13, 2017 Category: Pathology Authors: Warnica W, Provias JP Tags: Clin Neuropathol Source Type: research

Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.
Abstract Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduce...
Source: Clinical Neuropathology - March 23, 2017 Category: Pathology Authors: Cheng S, Lv H, Zhang W, Wang Z, Shi X, Liang W, Yuan Y Tags: Clin Neuropathol Source Type: research

CJD surveillance in the Republic of Ireland from 2005 to 2015: a suggested algorithm for referrals.
Abstract Definitive diagnosis of Creutzfeldt Jakob disease (CJD) remains tissue-based. Possible and probable CJD are useful clinical terms but may be used indiscriminately. The aim of this study was to assess the effectiveness of the Irish surveillance system and to ascertain how diagnostic accuracy in identifying clinically "definite" cases might be improved. We reviewed the clinical information, relevant investigations, and samples n = 100; (autopsy n = 87; biopsy n = 13) in 96 patients between January 1, 2005 and December 31, 2015. In 4 cases both a biopsy and autopsy wer...
Source: Clinical Neuropathology - March 23, 2017 Category: Pathology Authors: Loftus T, Chen D, Looby S, Chalissery A, Howley R, Heaney C, Heffernan J, Farrell M, Brett F Tags: Clin Neuropathol Source Type: research