Database : MEDLINE
Search on : Cerebellar and Neoplasms [Words]
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[PMID]: 29400039
[Au] Autor:Plantier D; Gusmão de Araújo J; Portmann D; Guindi S
[Ti] Title:Cholesteatoma and osteoradionecrosis after radio­therapy of the temporal bone: Surgical aspects.
[So] Source:Rev Laryngol Otol Rhinol (Bord);136(4):163-5, 2015.
[Is] ISSN:0035-1334
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Introduction: The treatment for head and neck cancer with radiotherapy can cause different alterations of the auditory system. We report two cases of chronic otitis of the external and middle ear secondary to osteoradionecrosis of the temporal bone. This article aims to report the experience of the surgical approach in such condition. Cases report: The first patient was treated with radiotherapy in his childhood for a cerebellar tumor. He developed years later a cholesteatoma which invaded the mastoid cavities through a destruction of the external auditory canal. The second was treated for a malignant parotid tumour 15 years before by surgery and radiotherapy. She developed a chronic otorrhea with a partial destruction of the bony external auditory canal. Both patients were treated by surgery with reconstruction including bone, cartilage, fascia and skin grafts. The outcome was good in both cases. Osteo­radio­necrosis of the temporal bone is a rare but serious complication of radiotherapy for head and neck cancer. This complication can occur even many years after the treatment. Our two cases demonstrate a way to solve this pathology. A long term supervision with regular cares is essential in order to get a good healing. Due to the improvement of the radiation therapy we could expect less complications of this type in the future.
[Mh] MeSH terms primary: Cholesteatoma, Middle Ear/etiology
Osteoradionecrosis/etiology
Radiotherapy/adverse effects
Temporal Bone/pathology
[Mh] MeSH terms secundary: Adult
Cerebellar Neoplasms/radiotherapy
Cholesteatoma, Middle Ear/surgery
Female
Humans
Male
Middle Aged
Osteoradionecrosis/surgery
Parotid Neoplasms/radiotherapy
Temporal Bone/surgery
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:180206
[St] Status:MEDLINE

  2 / 13549 MEDLINE  
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[PMID]: 28460824
[Au] Autor:Connor M; Karunamuni R; McDonald C; Seibert T; White N; Moiseenko V; Bartsch H; Farid N; Kuperman J; Krishnan A; Dale A; Hattangadi-Gluth JA
[Ad] Address:Department of Radiation Medicine and Applied Sciences, University of California San Diego, La Jolla, California, United States.
[Ti] Title:Regional susceptibility to dose-dependent white matter damage after brain radiotherapy.
[So] Source:Radiother Oncol;123(2):209-217, 2017 05.
[Is] ISSN:1879-0887
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Regional differences in sensitivity to white matter damage after brain radiotherapy (RT) are not well-described. We characterized the spatial heterogeneity of dose-response across white matter tracts using diffusion tensor imaging (DTI). MATERIALS AND METHODS: Forty-nine patients with primary brain tumors underwent MRI with DTI before and 9-12months after partial-brain RT. Maps of fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were generated. Atlas-based white matter tracts were identified. A secondary analysis using skeletonized tracts was also performed. Linear mixed-model analysis of the relationship between mean and max dose and percent change in DTI metrics was performed. RESULTS: Tracts with the strongest correlation of FA change with mean dose were the fornix (-0.46 percent/Gy), cingulum bundle (-0.44 percent/Gy), and body of corpus callosum (-0.23 percent/Gy), p<.001. These tracts also showed dose-sensitive changes in MD and RD. In the skeletonized analysis, the fornix and cingulum bundle remained highly dose-sensitive. Maximum and mean dose were similarly predictive of DTI change. CONCLUSIONS: The corpus callosum, cingulum bundle, and fornix show the most prominent dose-dependent changes following RT. Future studies examining correlation with cognitive functioning and potential avoidance of critical white matter regions are warranted.
[Mh] MeSH terms primary: Brain Neoplasms/radiotherapy
White Matter/radiation effects
[Mh] MeSH terms secundary: Adult
Brain Neoplasms/diagnostic imaging
Diffusion Tensor Imaging
Dose-Response Relationship, Radiation
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
White Matter/pathology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[Js] Journal subset:IM
[Da] Date of entry for processing:170503
[St] Status:MEDLINE

  3 / 13549 MEDLINE  
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[PMID]: 27776747
[Au] Autor:Connor M; Karunamuni R; McDonald C; White N; Pettersson N; Moiseenko V; Seibert T; Marshall D; Cervino L; Bartsch H; Kuperman J; Murzin V; Krishnan A; Farid N; Dale A; Hattangadi-Gluth J
[Ad] Address:Department of Radiation Medicine and Applied Sciences, University of California San Diego, United States.
[Ti] Title:Dose-dependent white matter damage after brain radiotherapy.
[So] Source:Radiother Oncol;121(2):209-216, 2016 11.
[Is] ISSN:1879-0887
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Brain radiotherapy is limited in part by damage to white matter, contributing to neurocognitive decline. We utilized diffusion tensor imaging (DTI) with multiple b-values (diffusion weightings) to model the dose-dependency and time course of radiation effects on white matter. MATERIALS AND METHODS: Fifteen patients with high-grade gliomas treated with radiotherapy and chemotherapy underwent MRI with DTI prior to radiotherapy, and after months 1, 4-6, and 9-11. Diffusion tensors were calculated using three weightings (high, standard, and low b-values) and maps of fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (λ ), and radial diffusivity (λ ) were generated. The region of interest was all white matter. RESULTS: MD, λ , and λ increased significantly with time and dose, with corresponding decrease in FA. Greater changes were seen at lower b-values, except for FA. Time-dose interactions were highly significant at 4-6months and beyond (p<.001), and the difference in dose response between high and low b-values reached statistical significance at 9-11months for MD, λ , and λ (p<.001, p<.001, p=.005 respectively) as well as at 4-6months for λ (p=.04). CONCLUSIONS: We detected dose-dependent changes across all doses, even <10Gy. Greater changes were observed at low b-values, suggesting prominent extracellular changes possibly due to vascular permeability and neuroinflammation.
[Mh] MeSH terms primary: Brain Neoplasms/radiotherapy
Cranial Irradiation/adverse effects
Glioma/radiotherapy
White Matter/radiation effects
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Brain Neoplasms/diagnostic imaging
Diffusion Tensor Imaging
Dose-Response Relationship, Radiation
Female
Glioma/diagnostic imaging
Humans
Magnetic Resonance Imaging
Male
Middle Aged
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1709
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[Js] Journal subset:IM
[Da] Date of entry for processing:161026
[St] Status:MEDLINE

  4 / 13549 MEDLINE  
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[PMID]: 29480846
[Au] Autor:Cai J; Li W; Du J; Xu N; Gao P; Zhou J; Li X
[Ad] Address:Department of Radiology, Beijing Tiantan Hospital affiliated to Capital Medical University.
[Ti] Title:Supratentorial intracerebral cerebellar liponeurocytoma: A case report and literature review.
[So] Source:Medicine (Baltimore);97(2):e9556, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Cerebellar liponeurocytoma is a rare tumor of the central nervous system (CNS) characterized by low proliferation but high likelihood of recurrence. Because of its rarity and the paucity of systematic follow-up, the biological behaviors and clinical features of this tumor are still poorly understood. We herein reported a case of cerebellar liponeurocytoma originating in the cerebral hemisphere. PATIENT CONCERNS: A 11-year-old male with intermittent headache, nausea, and vomiting. The first computed tomography revealed a large mass in the right cerebral hemisphere. He was transferred to our institution for neurosurgical treatment. DIAGNOSIS: Magnetic resonance imaging showed a large cystic-solid mass in the right frontal lobe with obvious contrast enhancement. Histopathological examinations showed sheets of isomorphic small neoplastic cells with clear cytoplasm and focal lipomatous differentiation. On immunohistochemistry, tumor cells were positive for synaptophysin, microtubule-associated protein 2, and neuronal nuclei antigen. INTERVENTIONS: The patient was performed a right fronto-parietal craniotomy, and gross total resection of the tumor was achieved without adjuvant therapy. OUTCOMES: No clinical or neuroradiological evidence of recurrence or residual of the tumor was found 6 years and 2 months after initial surgery. LESSONS: Cerebellar liponeurocytoma developing in supratentorial cerebral hemisphere was first reported in the present study. The radiological and histopathological features may be useful in differentiating this rare tumor from other tumors at similar locations. A change in the nomenclature of cerebellar liponeurocytomas should be considered in future World Health Organization (WHO) classifications.
[Mh] MeSH terms primary: Cerebellar Neoplasms/diagnostic imaging
Cerebellar Neoplasms/surgery
Neurocytoma/diagnostic imaging
Neurocytoma/surgery
Supratentorial Neoplasms/diagnostic imaging
Supratentorial Neoplasms/surgery
[Mh] MeSH terms secundary: Cerebellar Neoplasms/pathology
Child
Diagnosis, Differential
Humans
Male
Neurocytoma/pathology
Supratentorial Neoplasms/pathology
Terminology as Topic
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180227
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009556

  5 / 13549 MEDLINE  
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[PMID]: 28463155
[Au] Autor:Nanda RH; Ganju RG; Schreibmann E; Chen Z; Zhang C; Jegadeesh N; Cassidy R; Deng C; Eaton BR; Esiashvili N
[Ad] Address:Department of Radiation Oncology, Winship Cancer Institute, Emory University College of Medicine, Atlanta, Georgia. Electronic address: rhazari@emory.edu.
[Ti] Title:Correlation of Acute and Late Brainstem Toxicities With Dose-Volume Data for Pediatric Patients With Posterior Fossa Malignancies.
[So] Source:Int J Radiat Oncol Biol Phys;98(2):360-366, 2017 06 01.
[Is] ISSN:1879-355X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Radiation-induced brainstem toxicity after treatment of pediatric posterior fossa malignancies is incompletely understood, especially in the era of intensity modulated radiation therapy (IMRT). The rates of, and predictive factors for, brainstem toxicity after photon RT for posterior fossa tumors were examined. METHODS AND MATERIALS: After institutional review board approval, 60 pediatric patients treated at our institution for nonmetastatic infratentorial ependymoma and medulloblastoma with IMRT were included in the present analysis. Dosimetric variables, including the mean and maximum dose to the brainstem, the dose to 10% to 90% of the brainstem (in 10% increments), and the volume of the brainstem receiving 40, 45, 50, and 55 Gy were recorded for each patient. Acute (onset within 3 months) and late (>3 months of RT completion) RT-induced brainstem toxicities with clinical and radiographic correlates were scored using Common Terminology Criteria for Adverse Events, version 4.0. RESULTS: Patients aged 1.4 to 21.8 years underwent IMRT or volumetric arc therapy postoperatively to the posterior fossa or tumor bed. At a median clinical follow-up period of 2.8 years, 14 patients had developed symptomatic brainstem toxicity (crude incidence 23.3%). No correlation was found between the dosimetric variables examined and brainstem toxicity. Vascular injury or ischemia showed a strong trend toward predicting brainstem toxicity (P=.054). Patients with grade 3 to 5 brainstem toxicity had undergone treatment to significant volumes of the posterior fossa. CONCLUSION: The results of the present series demonstrate a low, but not negligible, risk of brainstem radiation necrosis for pediatric patients with posterior fossa malignancies treated with IMRT. No specific dose-volume correlations were identified; however, modern treatment volumes might help limit the incidence of severe toxicity. Additional work investigating inherent biologic sensitivity might also provide further insight into this clinical problem.
[Mh] MeSH terms primary: Brain Stem/radiation effects
Cerebellar Neoplasms/radiotherapy
Ependymoma/radiotherapy
Infratentorial Neoplasms/radiotherapy
Medulloblastoma/radiotherapy
Radiation Injuries/pathology
Radiotherapy, Intensity-Modulated/adverse effects
[Mh] MeSH terms secundary: Acute Disease
Adolescent
Brain Stem/pathology
Cerebellar Neoplasms/pathology
Cerebellar Neoplasms/surgery
Child
Child, Preschool
Ependymoma/pathology
Ependymoma/surgery
Female
Follow-Up Studies
Humans
Infant
Infratentorial Neoplasms/pathology
Infratentorial Neoplasms/surgery
Male
Medulloblastoma/pathology
Medulloblastoma/surgery
Necrosis/etiology
Radiotherapy Dosage
Radiotherapy, Intensity-Modulated/methods
Time Factors
Tumor Burden
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[Js] Journal subset:IM
[Da] Date of entry for processing:170503
[St] Status:MEDLINE

  6 / 13549 MEDLINE  
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[PMID]: 29443778
[Au] Autor:He X; Chen Z; Dong Y; Tong D
[Ad] Address:Department of Radiology.
[Ti] Title:A primitive neuroectodermal tumor in an adult: Case report of a unique location and MRI characteristics.
[So] Source:Medicine (Baltimore);97(7):e9933, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Central nervous system primitive neuroectodermal tumors (CNS PNETs) mostly occur in children and present as cerebellar medulloblastoma. A few cases of PNETs occur in the cerebral hemisphere. The presence of a PNET in ventricles is extremely rare. The prognosis of CNS PNET is extremely poor, and the 5-year survival rate does not exceed 35%. In the present study, we describe the first case of a PNET in the ventricles with good prognosis. PATIENT CONCERNS: The case of a 36-year-old man is reported, who presented with a progressively worsening headache for 2 months. DIAGNOSES: Magnetic resonance imaging (MRI) revealed multiple tubercula on the walls of the lateral and third ventricles. Histopathologic analysis revealed a hypercellular tumor with small round cells containing hyperchromatic nuclei and a high nucleus:cytoplasm ratio. The analysis was consistent with PNET. INTERVENTIONS: Radiation therapy covering the entire craniospinal axis was administered, with Temozolomide for synchronous auxiliary treatment. OUTCOMES: The patient was follow-up for a year and showed no signs of recurrence. LESSONS: We present the first CNS PNET located in the ventricles with good prognosis. In this case, radiotherapy with Temozolomide auxiliary treatment presented good efficacy and safety to treat PNET. Additional studies on biomarkers may be useful in predicting personalized therapeutic response.
[Mh] MeSH terms primary: Brain Neoplasms/diagnostic imaging
Cerebral Ventricles/diagnostic imaging
Magnetic Resonance Imaging
Neuroectodermal Tumors, Primitive/diagnostic imaging
[Mh] MeSH terms secundary: Adult
Antineoplastic Agents, Alkylating/therapeutic use
Brain Neoplasms/drug therapy
Brain Neoplasms/radiotherapy
Chemotherapy, Adjuvant
Dacarbazine/analogs & derivatives
Dacarbazine/therapeutic use
Humans
Male
Neuroectodermal Tumors, Primitive/drug therapy
Neuroectodermal Tumors, Primitive/radiotherapy
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antineoplastic Agents, Alkylating); 7GR28W0FJI (Dacarbazine); YF1K15M17Y (temozolomide)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180215
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009933

  7 / 13549 MEDLINE  
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[PMID]: 29390569
[Au] Autor:Roh TH; Park YS; Park YG; Kim SH; Chang JH
[Ad] Address:Yonsei University Graduate School.
[Ti] Title:Intracranial squamous cell carcinoma arising in a cerebellopontine angle epidermoid cyst: A case report and literature review.
[So] Source:Medicine (Baltimore);96(51):e9423, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Most of the intracranial epidermoid cysts are benign, but malignant lesions are occasionally reported. These lesions appear as squamous cell carcinoma and carry a dismal prognosis. Here, we report a case of a primary intracranial squamous cell carcinoma arising in a cerebellopontine epidermoid cyst. The relevant literatures were also reviewed. PATIENT CONCERNS: A 53-year-old woman presented with dizziness and diplopia 9 months in duration. Magnetic resonance imaging revealed an epidermoid cyst in the left cerebellopontine angle and prepontine region with a focal enhancing lesion on T1-weighted gadolinium-enhanced images. DIAGNOSES: Histopathologic diagnosis revealed squamous cell carcinoma on a background of epidermoid cyst. Imaging studies excluded metastases. INTERVENTIONS: The tumor was removed subtotally through a lateral suboccipital approach. The patient received intensity modulated radiation therapy (6720 cGy total) postoperatively. OUTCOMES: The patient was free from recurrence of the tumor until 3 years after surgery, at which point she was lost to follow-up. The patient died 4 years after the surgery. LESSONS: The epidermoid cyst may occasionally become malignant. Finding an area of enhancement through preoperative magnetic resonance imaging can help to make a correct diagnosis. Based on the review of previous reports, surgical removal followed by radiotherapy shows the best result to treat malignant epidermoid cysts.
[Mh] MeSH terms primary: Carcinoma, Squamous Cell/etiology
Cerebellar Neoplasms/etiology
Cerebellopontine Angle
Epidermal Cyst/complications
[Mh] MeSH terms secundary: Carcinoma, Squamous Cell/diagnosis
Carcinoma, Squamous Cell/pathology
Carcinoma, Squamous Cell/therapy
Cerebellar Neoplasms/diagnosis
Cerebellar Neoplasms/pathology
Cerebellar Neoplasms/therapy
Cerebellopontine Angle/pathology
Combined Modality Therapy
Female
Humans
Middle Aged
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009423

  8 / 13549 MEDLINE  
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[PMID]: 29381948
[Au] Autor:Qin Y; Zhang HB; Ke CS; Huang J; Wu B; Wan C; Yang CS; Yang KY
[Ad] Address:Cancer Center, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei.
[Ti] Title:Primary extraskeletal myxoid chondrosarcoma in cerebellum: A case report with literature review.
[So] Source:Medicine (Baltimore);96(47):e8684, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant neoplasm of which intracranial EMC is the rarest. PATIENT CONCERNS: We present an unusual case report of a 41-year-old woman who was sent to the emergency department for a sudden headache and other symptoms related to increased intracranial pressure. INTERVENTIONS: Emergent CT revealed an occupying lesion in the left cerebellum with surrounding edema. A complete surgical excision of the lesion through a transcortical approach was performed. After the operation, this patient received adjuvant radiotherapy and temozolomide treatment. DIAGNOSES: Pathology diagnosis was an intracranial EMC. OUTCOMES: The patient survives with no tumor recurrence as of the last follow-up. Progression-free survival exceeded 20 months. LESSONS: We have reviewed the literature and here summarize the diagnosis and treatment options for intracranial EMC. Diagnosis and treatment options of this rare disease are discussed.
[Mh] MeSH terms primary: Cerebellar Neoplasms
Cerebellum
Chondrosarcoma
Dacarbazine/analogs & derivatives
Neoplasms, Connective and Soft Tissue
Neurosurgical Procedures/methods
[Mh] MeSH terms secundary: Adult
Antineoplastic Agents, Alkylating/administration & dosage
Cerebellar Neoplasms/complications
Cerebellar Neoplasms/pathology
Cerebellar Neoplasms/physiopathology
Cerebellar Neoplasms/surgery
Cerebellum/diagnostic imaging
Cerebellum/surgery
Chemoradiotherapy, Adjuvant/methods
Chondrosarcoma/complications
Chondrosarcoma/pathology
Chondrosarcoma/physiopathology
Chondrosarcoma/surgery
Dacarbazine/administration & dosage
Female
Humans
Intracranial Hypertension/diagnosis
Intracranial Hypertension/etiology
Neoplasms, Connective and Soft Tissue/complications
Neoplasms, Connective and Soft Tissue/pathology
Neoplasms, Connective and Soft Tissue/physiopathology
Neoplasms, Connective and Soft Tissue/surgery
Tomography, X-Ray Computed/methods
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antineoplastic Agents, Alkylating); 7GR28W0FJI (Dacarbazine); YF1K15M17Y (temozolomide)
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008684

  9 / 13549 MEDLINE  
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[PMID]: 28742274
[Au] Autor:Ma D; Yang J; Wang Y; Huang X; Du G; Zhou L
[Ad] Address:Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
[Ti] Title:Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.
[So] Source:Am J Med Genet A;173(10):2605-2613, 2017 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetics of HBs. A total of 270 somatic variations in 219 genes, of which there were 86 mutations in 67 genes, were found in sporadic HBs, and 184 mutations were found in 154 genes in familial HBs. C: G>T: A and T: A>C: G mutations are relatively common in most HB patients. Genes harboring the most significant mutations include PCDH9, KLHL12, DCAF4L1, and VHL in sporadic HBs, and ZNF814, DLG2, RIMS1, PNN, and MUC7 in familial HBs. The frequency of CNV varied considerably within sporadic HBs but was relatively similar within familial HBs. Five genes, including OTOGL, PLCB4, SCEL, THSD4, and WWOX, have CNVs in the six patients with sporadic HBs, and three genes, including ABCA6, CWC27, and LAMA2, have CNVs in the five patients with familial HBs. We found new genetic mutations and CNVs that might be involved in HBs; these findings highlight the complexity of the tumorigenesis of HBs and pinpoint potential therapeutic targets for the treatment of HBs.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
Biomarkers, Tumor/genetics
Cerebellar Neoplasms/genetics
Exome/genetics
Hemangioblastoma/genetics
Mutation
Whole Exome Sequencing/methods
[Mh] MeSH terms secundary: Adult
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Prognosis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor)
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[Js] Journal subset:IM
[Da] Date of entry for processing:170726
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38350

  10 / 13549 MEDLINE  
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[PMID]: 27778210
[Au] Autor:Winkler EA; Birk H; Safaee M; Yue JK; Burke JF; Viner JA; Pekmezci M; Perry A; Aghi MK; Berger MS; McDermott MW
[Ad] Address:Department of Neurological Surgery, University of California San Francisco, 505 Parnassus Avenue, M-779, San Francisco, CA, 94143-0112, USA.
[Ti] Title:Surgical resection of fourth ventricular ependymomas: case series and technical nuances.
[So] Source:J Neurooncol;130(2):341-349, 2016 11.
[Is] ISSN:1573-7373
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Ependymomas are rare neuroepithelial tumors which may arise anywhere along the ventricular system. Tumors arising in the fourth ventricle present unique challenges. Complete tumor resection favors prolonged survival, but may result in inadvertent injury of surrounding neural structures-such as cranial nerve (CN) nuclei. Here, our institutional experience with surgical resection of fourth ventricular ependymomas is described. A single institution, retrospective analysis of consecutive case series of adult surgically resected fourth ventricular ependymomas with the bilateral telovelar approach. Extent of resection, outcomes and postoperative complications are statistically analyzed. From January 2000 to April 2016, 22 fourth ventricular ependymomas underwent surgical resection. Gross total resection was achieved in 18 of 22 cases (82 %). There were six postoperative CN palsies-3 lower CN palsies (IX, X, or XI), 1 CN VII palsy, 1 CN IV palsy, and 1 CN VI palsy. No deaths or cerebellar mutism occurred. Two of 6 CN deficits resolved and the rate of permanent neurologic deficit was 18 %. A CN deficit was not statistically associated with prolonged hospital stay or functional outcome. With exception of one patient, all patients functionally improved or remained unchanged following surgery. Postoperative complications included one wound infection (4.5 %) and four pseudomeningoceles (18 %). The rate of shunt-dependent hydrocephalus was 18 %. Tumors adherence to the fourth ventricular floor is not an absolute contraindication for complete resection. Intraoperative neuro-monitoring is essential, and the development of sustained, but not transient CN activity, and/or hemodynamically significant bradycardia should limit the extent of resection.
[Mh] MeSH terms primary: Cerebral Ventricle Neoplasms/surgery
Ependymoma/surgery
Fourth Ventricle/surgery
Neurosurgical Procedures
[Mh] MeSH terms secundary: Humans
Length of Stay
Neurosurgical Procedures/adverse effects
Postoperative Complications
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[Js] Journal subset:IM
[Da] Date of entry for processing:161103
[St] Status:MEDLINE


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