scholarly journals Primary Hemangioblastoma of Kidney with Molecular Analyses by Next Generation Sequencing: A Case Report and Review of the Literature

2021 ◽  
Author(s):  
Xintong Wang ◽  
George K Haines ◽  
Jane Houldsworth ◽  
Qiusheng Si
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Renal Cell ◽  
Pathological Examination ◽  
Molecular Evidence ◽  
Pathologic Features ◽  
Eosinophilic Cytoplasm ◽  
The Central Nervous System ◽  
Positive Immunostaining ◽  
Vhl Disease

Abstract Background: Hemangioblastoma is an indolent mesenchymal tumor most frequently occurring in the central nervous system (CNS), but can also arise extraneuraxially, as part of von Hippel-Lindau (VHL) disease or in sporadic cases. Extraneuraxial hemangioblastomas (EH) occur outside the central nervous system. It includes tumors arising from the nervous paraneuraxial structures and visceral organs. Sporadic hemangioblastoma of the kidney, a rare subset of EH, is an under-recognized renal neoplasm. There have been only 25 cases described to date in the English language literature. We report herein one additional case in a patient without VHL disease.Case presentation: A 61 year old male presenting with gross hematuria was found to have a 3.5 cm renal mass at the lateral mid to lower pole of the left kidney on computed tomography urogram. Patient underwent a partial nephrectomy for the mass. The pathological examination showed a well-circumscribed non-encapsulated tumor composed of sheets of large polygonal cells traversed by a rich vascular network. The tumor cells showed clear to eosinophilic cytoplasm and overall bland nuclei. The diagnosis of hemangioblastoma was confirmed by positive immunostaining for alpha-inhibin, S100, neuron-specific enolase, PAX8, and negative staining for epithelial membrane antigen, HMB-45, and Melan-A. VHL gene mutation was not detected in this tumor. The diagnosis of sporadic renal hemangioblastoma was made.Conclusion: Sporadic renal hemangioblastoma (RH) is a rare subset of EH. We report herein one such case in a patient without clinical or molecular evidence of VHL disease. We reviewed the literature to better understand the clinical, radiological and pathologic features of this neoplasm. From our review cases and the present case, we have found that the majority of RHs showed a positive immunostaining for PAX8, which supports the idea that the immunoprofiles of EH can vary depending on sites of origin. Diagnosis of renal hemangioblastoma is challenging because of its rarity and overlapping microscopic and immunophenotypic features with renal cell tumor, especially with clear cell renal cell carcinoma. However, accurate diagnosis is necessary, since RH is clinically benign and correct recognition of this pathological entity is important to avoid unnecessary over treatment.

scholarly journals Suppurative infectious diseases of the central nervous system in domestic ruminants

2017 ◽  
Vol 37 (8) ◽  
pp. 820-828 ◽  
Author(s):  
Guilherme Konradt ◽  
Daniele M. Bassuino ◽  
Klaus S. Prates ◽  
Matheus V. Bianchi ◽  
Gustavo G.M. Snel ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Infectious Diseases ◽  
Neurological Disease ◽  
Etiologic Agent ◽  
Domestic Ruminants ◽  
The Central Nervous System ◽  
Positive Immunostaining

ABSTRACT: This study describes suppurative infectious diseases of the central nervous system (CNS) in domestic ruminants of southern Brazil. Reports from 3.274 cattle, 596 sheep and 391 goats were reviewed, of which 219 cattle, 21 sheep and 7 goats were diagnosed with central nervous system inflammatory diseases. Suppurative infectious diseases of the CNS corresponded to 54 cases (28 cattle, 19 sheep and 7 goats). The conditions observed consisted of listerial meningoencephalitis (8 sheep, 5 goats and 4 cattle), suppurative leptomeningitis and meningoencephalitis (14 cattle, 2 goats and 1 sheep), cerebral (6 cattle and 2 sheep), and spinal cord (7 sheep) abscesses, and basilar empyema (4 cattle and 1 sheep). Bacterial culture identified Listeria monocytogenes (9/54 cases), Escherichia coli (7/54 cases), Trueperella pyogenes (6/54 cases) and Proteus mirabilis (1/54 cases). All cases diagnosed as listeriosis through histopathology yielded positive immunostaining on immunohistochemistry, while 12/17 of the cases of suppurative leptomeningitis and meningoencephalitis presented positive immunostaining for Escherichia coli. Meningoencephalitis by L. monocytogenes was the main neurological disease in sheep and goats, followed by spinal cord abscesses in sheep. In cattle, leptomeningitis and suppurative meningoencephalitis was the most frequent neurological disease for the species, and E. coli was the main cause of these lesions. Basilar empyema, mainly diagnosed in cattle, is related to traumatic injuries, mainly in the nasal cavity, and the main etiologic agent was T. pyogenes.

Isolated Central Nervous System Hemophagocytic Lymphohistiocytosis: Case Report

Neurosurgery ◽  
2005 ◽  
Vol 56 (1) ◽  
pp. E187-E190 ◽  
Author(s):  
Jun Shinoda ◽  
Satoru Murase ◽  
Katsunobu Takenaka ◽  
Noboru Sakai
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Complete Resolution ◽  
Pathological Examination ◽  
Magnetic Resonance Imaging Scan ◽  
Corticosteroid Administration ◽  
Surgical Specimen ◽  
First Case ◽  
The Central Nervous System

Abstract OBJECTIVE AND IMPORTANCE: The first case of histologically proven hemophagocytic lymphohistiocytosis (HLH) isolated to the central nervous system (CNS) is reported. HLH affecting the CNS mimics several neurological disorders and may be misdiagnosed. The diagnostic and therapeutic problems of this disease are discussed. CLINICAL PRESENTATION: We report a case of a 5-year-old girl with a 2-month history of right hemiparesis. The initial magnetic resonance imaging scan mimicked the appearance of malignant glioma or cerebral infarction. By use of neuroimaging alone, it was extremely difficult to reach an appropriate diagnosis. INTERVENTION: Pathological examination of a surgical specimen of the lesion revealed histological characteristics typical of HLH. Because of the absence of both physical and blood chemical findings of systemic HLH, the patient was diagnosed as having HLH isolated in the CNS without systemic HLH. Radiotherapy with corticosteroid administration led to complete resolution of the CNS lesions, but the duration of remission was only 3 months. The patient died secondary to refractory progression of the CNS lesion. CONCLUSION: Radiotherapy with corticosteroid administration led to a complete resolution of the lesions, although for only a transitory remission. Although HLH is extremely rare, the existence of this disease isolated in the CNS should be documented, and further case accumulation and therapeutic investigations are needed to clarify the pathophysiological characteristics of this disease.

A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel–Lindau (VHL) disease

2011 ◽  
Vol 18 (7) ◽  
pp. 939-944 ◽  
Author(s):  
Somanath Padhi ◽  
RajLaxmi Sarangi ◽  
Sundaram Challa ◽  
Priyatamjee Bussary ◽  
Manas K. Panigrahi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Retrospective Study ◽  
Von Hippel Lindau ◽  
The Central Nervous System ◽  
Vhl Disease

scholarly journals Pathology of the Nervous System in Von Hippel-Lindau Disease

2015 ◽  
Vol 2 (3) ◽  
pp. 114-129 ◽  
Author(s):  
Alexander O. Vortmeyer ◽  
Ahmed K. Alomari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hypoxia Inducible Factors ◽  
Metastatic Renal Cancer ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Vhl Disease ◽  
Common Manifestation

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactivation and tumorigenesis remains poorly understood. Hemangioblastomas are the most common manifestation in the CNS; however, CNS invasion by VHL disease-associated endolymphatic sac tumors or metastatic renal cancer also occur, and their differentiation from primary hemangioblastoma may be challenging. Finally, in this review, we present recent morphologic insights on the developmental concept of VHL tumorigenesis which is best explained by pathologic persistence of temporary embryonic progenitor cells. 

Hemangioblastomas of the Central Nervous System in von Hippel-Lindau Syndrome and Sporadic Disease

Neurosurgery ◽  
2001 ◽  
Vol 48 (1) ◽  
pp. 55-63 ◽  
Author(s):  
James E. Conway ◽  
Dean Chou ◽  
Richard E. Clatterbuck ◽  
Henry Brem ◽  
Donlin M. Long ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Von Hippel Lindau ◽  
Multiple Lesions ◽  
Younger Age ◽  
The Central Nervous System ◽  
Sporadic Disease ◽  
Vhl Disease

Abstract OBJECTIVE The presentation, screening, management, and clinical outcomes of patients who presented to our institution from 1973 to 1999 with central nervous system (CNS) hemangioblastomas in von Hippel-Lindau (VHL) syndrome and sporadic disease were analyzed. METHODS The surgical pathology database of our institution was searched to identify all patients with histologically verified CNS hemangioblastomas occurring from 1973 to 1999. The medical, radiological, surgical, pathological, and autopsy records from these patients were reviewed retrospectively and statistically analyzed. RESULTS Forty patients (21 males and 19 females) presented with CNS hemangioblastomas. Twenty-five patients (62%) harbored sporadic hemangioblastomas. Fifteen patients (38%) had VHL syndrome. These 40 patients presented with 61 hemangioblastomas (8 patients had multiple lesions). Ten patients (25%) harbored spinal cord hemangioblastomas (5 patients had multiple lesions). Patients with VHL disease tended to present with neurological symptoms and signs at a younger age than patients with sporadic disease (P = 0.09), to present with multiple lesions (53%), and to develop new lesions (rate, 1 lesion/2.1 yr). Hemangioblastomas of the spinal cord were more prevalent in patients with VHL syndrome (P = 0.024). Neuroradiological screening of patients with VHL syndrome allowed identification of more than 75% of new lesions before they became symptomatic. Sixty-six surgical procedures were performed (12 patients required multiple operations). Six patients with VHL syndrome required surgery for new lesions. Surgical complications occurred in six patients (15%). Symptom resolution or arrest of progression at 1 year was documented in 88% of patients. Recurrence of symptoms from partially resected lesions occurred in eight patients (20%). No deaths associated with surgery occurred. One patient with sporadic disease and one patient with VHL syndrome (5%) died as a result of late medical complications from CNS hemangioblastomas. CONCLUSION Surgical outcomes for patients with CNS hemangioblastomas are favorable. However, management of hemangioblastomas is a more difficult and prolonged endeavor for patients with VHL syndrome. In patients with VHL syndrome, neuroradiological screening allows identification of lesions before they become symptomatic. Because patients with VHL syndrome are at risk for development of new lesions, they require lifelong follow-up.

scholarly journals Anatomopathological and Immunohistochemical Apects of Distemper Virus in Crab-Eating-Foxes and Pampa-Foxes

2019 ◽  
Vol 47 (1) ◽  
Author(s):  
Mônica Slaviero ◽  
Luiza Presser Ehlers ◽  
Cíntia De Lorenzo ◽  
Bruna Zafalon-Silva ◽  
David Driemeier ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Immune Response ◽  
Nervous System ◽  
Virus Infection ◽  
Inclusion Bodies ◽  
Viral Antigen ◽  
Clinical Signs ◽  
Wild Canids ◽  
The Central Nervous System ◽  
Positive Immunostaining

Background: Distemper is a contagious disease with worldwide distribution, which is caused by a single-stranded RNA virus of the genus Morbillivirus. The Crab-eating fox (Cerdocyon thous) and the Pampas fox (Lycalopex gymnocercus), wild canids commonly found in the state of Rio Grande do Sul, are highly susceptible to the disease. Distemper virus infection often shows a multisystemic presentation. Central nervous system lesions are frequently reported, and may lead to death of wild canids. Distemper virus infection affecting these species has been cited by several studies; nonetheless, case descriptions involving the Crab-eating fox and the Pampas fox are infrequent. Therefore, the objective of the present study is to describe the anatomopathological and immunohistochemical aspects of distemper in the referred species, aiming to assist with the diagnosis of the disease.Materials, Methods & Results: A retrospective study was performed, and the necropsy reports of Crab-eating foxes and Pampas foxes admitted to SPV-UFRGS from 2010 to 2016 were reviewed. Necropsy reports were revised in order to obtain information related to the clinical history and anatomopathological findings, and cases compatible with distemper were selected.  Data regarding the affected species, sex, approximate age, origin and clinical signs were compiled and analyzed. Selected histological sections of brain and cerebellum were submitted for immunohistochemistry (IHC) for monoclonal antibody canine distemper virus. In the studied period, 20 animals of the referred species were subjected to necropsy, of which four were diagnosed with distemper as a cause of death. Of the affected animals, two were female and two were male. Three were juvenile and one was an adult animal. Clinical signs reported included myoclonia, opisthotonos, forelimb paresis and nystagmus. No significant gross changes were noted. Histopathological findings were restricted to the central nervous system, especially in the cerebellum, and the main lesion was demyelination, as well as gemistocytic astrocytes, malacia with Gitter cells, gliosis and perivascular cuffing. Inclusion bodies were observed in only one case. Diffuse and marked viral antigen positive immunostaining was detected, mainly in the cytoplasm of astrocytes, predominantly in the cerebellum.  Discussion: The diagnosis of distemper affecting the Crab-eating fox and Pampas fox was based on the clinical and histopathological findings, along with viral antigen identification through immunohistochemistry. Clinical signs were restricted to the central nervous system and were associated with the affected area. Significant gross changes in the central nervous system were not observed, similarly to what has been described by other authors. The main histological lesion was demyelination in the cerebellum, which is in agreement with previous reports in wild canids. Similarly to the findings reported in dogs and mustelids, positive immunostaining was observed mainly in the cytoplasm of astrocytes in the cerebellum; however, in our cases diffuse marked staining was noted. Although some authors have reported that viral antigens disappear in demyelinating lesions, due to the inflammation associated with the host immune response, the opposite was observed in the present study, suggesting viral persistency linked to a weak immune response in these species. The clinical and pathological changes observed were compatible with the neurologic phase of distemper; therefore, it is important to include this agent among the differential diagnosis in the referred wild canids, mainly in animals presenting neurological signs. Immunohistochemichal evaluation was important to the establishment of postmortem diagnosis of distemper, since characteristic viral inclusion bodies were rarely observed through histopathology. 

Inflammatory pseudotumor of the choroid plexus

1993 ◽  
Vol 79 (6) ◽  
pp. 939-942 ◽  
Author(s):  
José Pimentel ◽  
Adília Costa ◽  
Luís Távora
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Choroid Plexus ◽  
Inflammatory Pseudotumor ◽  
Pathological Examination ◽  
Intraventricular Tumor ◽  
Content Type ◽  
Left Lateral Ventricle ◽  
The Central Nervous System ◽  
Fine Print

✓ The case of an 18-year-old man with a tumor of the left lateral ventricle is reported. The mass was observed to be contiguous with the choroid plexus but could be totally removed. Pathological examination disclosed an inflammatory pseudotumor. The authors review the literature on this lesion and related disorders involving the central nervous system and stress the need for a morphological differential diagnosis. Inflammatory pseudotumor should be considered in any case of intraventricular tumor.

scholarly journals Central nervous system ALK-negative anaplastic large cell lymphoma with IRF4/DUSP22 rearrangement

2021 ◽  
Author(s):  
Shino Magaki ◽  
Radha Satyadev ◽  
Zesheng Chen ◽  
Kathryn S. Yung ◽  
Harry V. Vinters ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Significant Proportion ◽  
Large Cell ◽  
Good Prognosis ◽  
First Case ◽  
Pathologic Features ◽  
The Central Nervous System ◽  
The Brain

AbstractAnaplastic large cell lymphomas (ALCL) are mature T-cell neoplasms, approximately half of which harbor rearrangements of the ALK gene that confer a good prognosis. Recent studies have demonstrated that a significant proportion of ALK-negative ALCLs demonstrate rearrangements of the IRF4/DUSP22 locus that also are typically associated with a favorable prognosis. ALCL with primary involvement of the central nervous system (CNS) is extremely rare. We report what may be the first case of ALK-negative ALCL with IRF4/DUSP22 rearrangement involving the brain in a 55-year-old man. Magnetic resonance imaging demonstrated signal abnormalities in the periventricular region, corpus callosum and cingulate gyrus. Biopsy revealed a diffuse parenchymal and angiocentric infiltrate of CD30-positive cells that showed IRF4/DUSP22 rearrangement by fluorescence in situ hybridization. We also review the clinical and pathologic features of primary CNS ALK-negative ALCLs in the literature and highlight the need for awareness of this entity to optimize appropriate management.

Molecular evidence and clinical significance of multiple organism co-infection in the central nervous system

2000 ◽  
Vol 40 (2) ◽  
pp. A33
Author(s):  
A. Bonington ◽  
J.I.G. Strang ◽  
P.E. Klapper ◽  
S.V. Hood ◽  
A. Bailey ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Significance ◽  
Molecular Evidence ◽  
The Central Nervous System

Cavernous angiomas of the central nervous system in children

1992 ◽  
Vol 76 (1) ◽  
pp. 38-46 ◽  
Author(s):  
R. Michael Scott ◽  
Patrick Barnes ◽  
William Kupsky ◽  
Lester S. Adelman
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Vascular Malformations ◽  
Cavernous Angioma ◽  
Neurological Status ◽  
Pathological Examination ◽  
Incomplete Resection ◽  
Content Type ◽  
Cavernous Angiomas ◽  
The Central Nervous System

✓ A surgical series of 19 patients under the age of 18 years with pathologically verified cavernous angioma is presented. Most lesions were located in the cerebral hemispheres, but four were in the pons or midbrain, two in the diencephalon, and one in the spinal cord. Fourteen patients presented with an acute or progressing neurological deficit, three with seizures, one infant with irritability, and one with headache alone. Five patients had family histories of vascular malformations of the central nervous system, and five had multiple lesions. Surgery for small or deep lesions was aided considerably by intraoperative ultrasonographic or stereotactic localization techniques. Pathological examination of the resected malformations revealed a complex histology containing not only typical closely approximated cavernous vessels, but also areas of marked proliferation of granulation tissue and partially re-endothelialized hemorrhage, suggesting a mechanism for the apparent growth of certain cavernous angiomas. The postoperative results were good, with only one patient suffering a permanent worsening of neurological status after surgery. Incomplete resection was initially carried out in five patients, two of whom rebled within 1 year after operation. Long-term follow-up findings in these patients have emphasized the unusual history of certain of these malformations.

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