Abstract:
:Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical, radiological, and biochemical assessments were performed. Genotypic studies used standard Sanger sequencing in conjunction with a target-specific peptide nucleic acid to detect IDH1 mutations in tumor tissues. DNA sequencing demonstrated identical IDH1 mutations (c.394C > T) in both tumors. To the authors' knowledge, this report provides the first genetic evidence for the inclusion of pituitary adenomas among tumors characterizing Maffucci syndrome. In patients who are newly diagnosed with Maffucci syndrome, it is appropriate to monitor for development of pituitary pathology and neuroendocrine dysfunction.
journal_name
J Neurosurgjournal_title
Journal of neurosurgeryauthors
Hao S,Hong CS,Feng J,Yang C,Chittiboina P,Zhang J,Zhuang Zdoi
10.3171/2015.4.JNS15191subject
Has Abstractpub_date
2016-06-01 00:00:00pages
1562-7issue
6eissn
0022-3085issn
1933-0693journal_volume
124pub_type
杂志文章abstract:OBJECTIVE:The optimal surgical treatment for acute subdural hemorrhage (ASDH) remains controversial. The purpose of this study was to compare outcomes in patients who underwent craniotomy with those in patients who underwent decompressive craniectomy for the treatment of ASDH. METHODS:Using the Japan Trauma Data Bank,...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2019.4.JNS182660
更新日期:2019-06-21 00:00:00
abstract:OBJECT:Descriptions of visual dysfunction in pineal gland tumors tend to focus on upward gaze palsy alone. The authors aimed to characterize the nature, incidence, and functional significance of ophthalmological dysfunction after resection of tumors based on the pineal gland. METHODS:Review of a retrospective case ser...
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doi:10.3171/2013.3.JNS122137
更新日期:2013-08-01 00:00:00
abstract::The use of a serum-free culture system for assessing the growth factor responsiveness of malignant glial cells is described. The mitogenic properties of epidermal growth factor (EGF) and platelet-derived growth factor (PDGF) were examined in three human malignant glioma cell lines (T98G, U87, and U138). Each of the th...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1990.73.1.0106
更新日期:1990-07-01 00:00:00
abstract:OBJECT:Knowing the rate of rupture associated with unruptured cerebral aneurysms (UCAs) can help surgeons determine a case management strategy in patients harboring these lesions. According to large-scale cohort studies involving populations in North America and Europe, small unruptured aneurysms carry a very low risk ...
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pub_type: 杂志文章,评审
doi:10.3171/jns.2005.102.4.0601
更新日期:2005-04-01 00:00:00
abstract::The management of ventriculoperitoneal (VP) shunt failure is a common problem in neurosurgical practice. On occasion, extraperitoneal sites for CSF diversion are required when shunting to the peritoneal cavity has failed after multiple attempts. The authors report a novel minimally invasive procedure allowing cannulat...
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pub_type: 杂志文章
doi:10.3171/2016.8.JNS16342.test
更新日期:2017-03-17 00:00:00
abstract::Intracranial occurrence of follicular dendritic cell (FDC) sarcoma, a rare tumor derived from dendritic cells of the lymphoid follicle, has not yet been described. Therefore, the case of a 53-year-old man presenting with an intracranial mass invading the clivus is reported. The diagnosis of FDC sarcoma was confirmed b...
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doi:10.3171/jns.2003.99.6.1089
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doi:10.3171/ped.2007.106.2.75
更新日期:2007-02-01 00:00:00
abstract::A rare case of leiomyosarcoma arising from the dura mater is presented. A definite histological diagnosis was based on the electron microscopic features. Extensive removal of the tumor and postoperative radiation therapy resulted in complete remission. The etiology and the origin of this tumor are discussed. ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1988.68.2.0308
更新日期:1988-02-01 00:00:00
abstract::Secondary operations for the removal of retained bone fragments have been performed in 116 of the 1133 casualties with craniocerebral missile wounds incurred in the war in Vietnam, 1967 to 1970. Various complications developed in 19 of these 116 casualties. Dehiscence of the wound occurred in eight patients, five of w...
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pub_type: 杂志文章
doi:10.3171/jns.1982.57.5.0617
更新日期:1982-11-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/jns.1998.88.1.0106
更新日期:1998-01-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/jns.1986.64.1.0045
更新日期:1986-01-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/2017.4.JNS163113
更新日期:2018-07-01 00:00:00
abstract:OBJECT:The deep frontal pathway connecting the superior frontal gyrus to Broca's area, recently named the frontal aslant tract (FAT), is assumed to be associated with language functions, especially speech initiation and spontaneity. Injury to the deep frontal lobe is known to cause aphasia that mimics the aphasia cause...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2014.10.JNS14945
更新日期:2015-06-01 00:00:00
abstract:OBJECT:Subthalamotomy is a stereotactic surgery performed in patients with disabling dyskinesias due to Parkinson disease. The authors set out to model this human condition in MPTP monkeys and determine if subthalamotomy allowed a reduction of levodopa for similar benefit. METHODS:The authors performed unilateral subt...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2012.9.JNS12295
更新日期:2013-01-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/2014.10.JNS14780
更新日期:2015-03-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/2019.12.JNS193196
更新日期:2020-03-13 00:00:00
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journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1980.53.1.0012
更新日期:1980-07-01 00:00:00
abstract::The authors present a rare case of pituicytoma. A dynamic magnetic resonance study performed after Gd injection revealed a markedly, homogeneously enhanced, early-phase pituitary lesion in a 32-year-old woman with a 1-year history of amenorrhea. The tumor bled easily during transsphenoidal resection. The lesion consis...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2003.98.2.0404
更新日期:2003-02-01 00:00:00
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journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2014.9.JNS14405
更新日期:2015-07-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/jns.2002.96.3.0464
更新日期:2002-03-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/JNS/2008/108/6/1215
更新日期:2008-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2000-02-01 00:00:00
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pub_type: 评论,杂志文章
doi:10.3171/2016.3.JNS151289
更新日期:2017-04-01 00:00:00
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journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1985.63.3.0349
更新日期:1985-09-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/2016.1.JNS152077
更新日期:2017-05-01 00:00:00
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journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1980.52.2.0266
更新日期:1980-02-01 00:00:00
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journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1995.83.4.0621
更新日期:1995-10-01 00:00:00
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pub_type: 杂志文章
doi:10.3171/jns.1993.78.3.0463
更新日期:1993-03-01 00:00:00
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更新日期:2004-03-01 00:00:00
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pub_type: 历史文章,杂志文章
doi:10.3171/jns.1998.88.4.0782
更新日期:1998-04-01 00:00:00