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1.
Acta Neurochir (Wien) ; 165(5): 1379-1387, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36823478

RESUMEN

BACKGROUND: Laser interstitial thermal therapy (LITT) has been used to treat brain metastases (BMs) in several countries, and its safety and effectiveness have been confirmed. In most cases, magnetic resonance imaging (MRI) reveals an increase in tumor volume with an enhanced margin after LITT. However, little is known about the relationship between this MRI change and tumor recurrence. OBJECTIVE: We report the first case series of BMs treated by LITT in China to evaluate the clinical characteristics and predictive factors of tumor recurrence. MATERIAL AND METHODS: Patients with less than four brain metastatic lesions and a Karnofsky performance status (KPS) > 70 were eligible for study inclusion. Standard LITT procedures were performed, and a follow-up MRI was performed to analyze the radiographic changes, especially the volume ratio of the enhanced margin and the whole lesion on MRI at 30 days postoperatively. All the volume-related data were delineated and calculated using 3D Slicer software. Related predictors were also collected to evaluate the correlation with local tumor control. RESULTS: Eighteen patients with nineteen lesions were enrolled for treatment and follow-up. Primary tumor histology included pulmonary carcinoma (n = 11) and breast cancer (n = 4). On average, the tumor size measured 3.01 cm3 (range, 0.40-7.40 cm3), the total ablation time was 13.58 min (range, 2.88-37.15 min), and the complete ablation rate was 92.4% (range, 29.2-100%). Comparing 3s0-day follow-up MRI results with preoperative MRI findings, 18 lesions showed a 2.28-fold (range, 1.21-4.88) volume increase; all the lesions displayed an enhanced component with a volume ratio of 42.35% (range, 10.14-100%). Five patients experienced tumor recurrence, and the local tumor control rates at 90 days and 180 days of follow-up were 68.4% and 66.7%, respectively. Univariate analysis indicated that the primary tumor, ablation rate, and enhanced volume ratio (EVR) > 40% in the 30-day MRI were associated with tumor recurrence, whereas multivariate analysis showed that only EVR > 40% was a predictive factor of local control. CONCLUSION: LITT is a minimally invasive method used to ablate brain metastases which can be used as the first-line treatment for BM patients under certain indications. After LITT, most tumors showed volume enlargement on the 30-day MRI scan, and EVR > 40% on the 30-day MRI may indicate late tumor recurrence.


Asunto(s)
Neoplasias Encefálicas , Terapia por Láser , Humanos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Recurrencia Local de Neoplasia/cirugía , Recurrencia Local de Neoplasia/etiología , Terapia por Láser/métodos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Imagen por Resonancia Magnética/métodos , Rayos Láser , Resultado del Tratamiento
2.
J Cell Mol Med ; 24(7): 3931-3947, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32126150

RESUMEN

Glioblastoma (GBM) is one of the most common aggressive cancers of the central nervous system in adults with a high mortality rate. Bortezomib is a boronic acid-based potent proteasome inhibitor that has been actively studied for its anti-tumour effects through inhibition of the proteasome. The proteasome is a key component of the ubiquitin-proteasome pathway that is critical for protein homeostasis, regulation of cellular growth, and apoptosis. Overexpression of polo-like kinase 4 (PLK4) is commonly reported in tumour cells and increases their invasive and metastatic abilities. In this study, we established a cell model of PLK4 knockdown and overexpression in LN-18, A172 and LN-229 cells and found that knockdown of PLK4 expression enhanced the anti-tumour effect of bortezomib. We further found that this effect may be mediated by the PTEN/PI3K/AKT/mTOR signalling pathway and that the apoptotic and oxidative stress processes were activated, while the expression of matrix metalloproteinases (MMPs) was down-regulated. Similar phenomenon was observed using in vitro experiments. Thus, we speculate that PLK4 inhibition may be a new therapeutic strategy for GBM.


Asunto(s)
Bortezomib/farmacología , Proliferación Celular/efectos de los fármacos , Glioblastoma/tratamiento farmacológico , Proteínas Serina-Treonina Quinasas/genética , Animales , Apoptosis/efectos de los fármacos , Ácidos Borónicos/farmacología , Línea Celular Tumoral , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Glioblastoma/genética , Glioblastoma/patología , Xenoinjertos , Humanos , Ratones , Fosfohidrolasa PTEN/genética , Fosfatidilinositol 3-Quinasas/genética , Inhibidores de Proteasoma/farmacología , Proteínas Proto-Oncogénicas c-akt/genética , Transducción de Señal/efectos de los fármacos , Serina-Treonina Quinasas TOR/genética
3.
J Neurooncol ; 149(3): 473-487, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33034841

RESUMEN

PURPOSES: Immunotherapies for solid tumor are gaining traction in the clinic, however, the immunological landscape of pituitary adenomas (PAs) is not well defined. In the present study, we used the RNA-seq data of PAs to investigate the impact of immunological landscape on clinical features of pituitary adenomas and aim to evaluate the potential immunotherapy for PAs. METHODS: We analyzed tumor-infiltrating immune cells in 115 PA samples using RNA-seq. Main immune cell types (B cells, CD8+ T cells, CD4+ T cells, macrophages and NK cells) were detected from the expression of genes. The association between immune cells abundance and immune checkpoint, as well as inflammatory factors were analyzed. 10 additional patients were enrolled for validation. RESULTS: In RNA sequencing data, landscape of PAs were identified. Our computationally inferred immune infiltrates significantly associate with patient clinical features. Growth hormone-secreting adenomas (GHomas) were found with higher B cells and CD8+ T cells infiltration. Moreover, GHomas showed relative different genetic background, significant invasive behavior and independently correlated with reduced progress-free time. Tumor progression was related to increased expression of PD-1/PD-L1 and was associated with higher immune infiltration. Analysis of cancer-testis antigen expression and CD8+ T-cell abundance suggested CTAG2 and TSPYL6 were potential immunotherapeutic targets in GHomas and non-functioning adenomas, respectively. CONCLUSIONS: Tumor-infiltrating immune cells confer important clinical and biological implications. Our results of immune-infiltrate levels in PAs may inform effective cancer vaccine and checkpoint blockade therapies and make it possible to take immunotherapy into invasive PAs.


Asunto(s)
Adenoma/inmunología , Biomarcadores de Tumor/genética , Linfocitos T CD8-positivos/inmunología , Regulación Neoplásica de la Expresión Génica , Linfocitos Infiltrantes de Tumor/inmunología , Neoplasias Hipofisarias/inmunología , Adenoma/genética , Adenoma/patología , Adulto , Biomarcadores de Tumor/inmunología , Femenino , Estudios de Seguimiento , Humanos , Inmunoterapia , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/patología , Pronóstico , Estudios Retrospectivos , Análisis de Secuencia de ARN
4.
Acta Neurochir (Wien) ; 162(6): 1249-1257, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32100111

RESUMEN

BACKGROUND: Ocular motor dysfunction is one of the most common postoperative complications of petroclival meningioma. However, its incidence, recovery rate, and independent risk factors remain poorly explored. METHODS: A prospective analysis of 31 petroclival meningiomas was performed. Operative approaches were selected by utilizing a new 6-region classification of petroclival meningiomas we proposed. Two scores were used to evaluate the functions of the oculomotor and abducens nerves. Pearson correlation analysis and binary logistic regression analysis were used to identify independent risk factors for intraoperative oculomotor and abducens nerve injury. RESULTS: Postoperative new-onset dysfunctions in the pupillary light reflex and eye/eyelid movements as well as abducens paralysis were detected in eight (25.8%), ten (32.3%) and twelve (38.7%) cases, respectively. Their corresponding recovery rates after 6 months of follow-up were 75% (6/8), 80% (8/10), and 83.3% (10/12), respectively, and their mean times to start recovery were 4.03, 2.43, and 2.5 months, respectively. Tumor invasion into the suprasellar region/sphenoid sinus was the only risk factor for dysfunctions in both the pupillary light reflex (p = 0.001) and eye/eyelid movements (p = 0.002). Intraoperative utilization of the infratrigeminal interspace was the only risk factor for dysfunction in eyeball abduction movement (p = 0.004). CONCLUSIONS: Dysfunctions of the oculomotor and abducens nerves recovered within 6 months postoperatively. Tumor extension into the suprasellar region/sphenoid sinus was the only risk factor for oculomotor nerve paralysis. Eye/eyelid movements were more sensitive than the pupillary light reflex in reflecting nerve dysfunctions. Intraoperative utilization of the infratrigeminal interspace was the only risk factor for abducens nerve paralysis.


Asunto(s)
Neoplasias Meníngeas/cirugía , Meningioma/cirugía , Procedimientos Neuroquirúrgicos/efectos adversos , Traumatismos del Nervio Oculomotor/fisiopatología , Complicaciones Posoperatorias/fisiopatología , Neoplasias de la Base del Cráneo/cirugía , Nervio Abducens/patología , Traumatismo del Nervio Abducente/etiología , Traumatismo del Nervio Abducente/fisiopatología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos/métodos , Nervio Oculomotor/patología , Traumatismos del Nervio Oculomotor/etiología , Complicaciones Posoperatorias/etiología , Reflejo Pupilar
5.
J Craniofac Surg ; 31(3): 825-828, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32049915

RESUMEN

BACKGROUND: Intracranial fibrosarcoma is an extremely rare neoplasm in the central nervous system. Insofar there were only sporadic case reports describing its features. The purpose of this study is to review the clinical and surgical features of cases who were treated in our department. METHOD: The authors retrospectively reviewed and detailed the clinical and surgical data obtained from 5 patients with fibrosarcoma who underwent treatment at our institute between January 2009 and January 2019. RESULTS: There were 3 males and 2 females including 2 juvenile and 3 senior patients. The most frequent sign was intermittent pain and vomiting. The location of the tumor included middle fossa, thalamus and midbrain, sellar and suprasellar region and right parietal-occipital lobe. Surgical observation demonstrated the consistency of the tumor was tenacious with abundant blood supply. Gross total resection was achieved in 2 cases. Pathological analysis showed spindle cells in a herringbone form with positive Vimentin staining in all 5 cases, with the absence of GFAP or S-100. All 5 patients were deceased eventually after a varied period of time after the first surgery. CONCLUSION: Intracranial fibrosarcoma was a highly malignant entity presented in the central nervous system. Surgery still remains the first-line treatment followed by radiotherapy, however, the prognostic outcome was very poor. Future studies should be more focused on accumulation of the relevant information on this disease thus hopefully in assisting to developing more optimized treatment.


Asunto(s)
Fibrosarcoma/diagnóstico por imagen , Neoplasias Craneales/diagnóstico por imagen , Adolescente , Adulto , Anciano , Niño , Femenino , Fibrosarcoma/metabolismo , Fibrosarcoma/cirugía , Humanos , Masculino , Persona de Mediana Edad , Lóbulo Occipital/diagnóstico por imagen , Lóbulo Occipital/metabolismo , Lóbulo Occipital/cirugía , Pronóstico , Estudios Retrospectivos , Neoplasias Craneales/metabolismo , Neoplasias Craneales/cirugía , Vimentina/metabolismo , Adulto Joven
6.
Clin Neuropathol ; 38(1): 28-32, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30526818

RESUMEN

Primary intradiploic epidermoid cyst of the central nervous system (CNS) is a rare disease. More than 200 cases have been reported so far. The lesion can affect every flat bone of the cranium. The pre-operative diagnosis is always misleading. We reported a 61-year-old female with giant primary intradiploic epidermoid cyst in the parietal bone. Surgical resection was performed. The patient recovered well with no complication nor neurologic dysfunction. A literature review of the disease will also be presented here.
.


Asunto(s)
Enfermedades Óseas/patología , Quiste Epidérmico/patología , Hueso Parietal/patología , Femenino , Humanos , Persona de Mediana Edad
7.
Can J Neurol Sci ; 45(1): 68-75, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29103386

RESUMEN

OBJECTIVE: The concomitant presence of pituitary adenoma (PA) with Rathke's cleft cyst (RCC) is rare, and most of the literature published is case reports. RCC's clinicopathological features have not been well described. METHODS: We retrospectively reviewed the data of 15 patients with PA associated with RCC. We also provide a systematic review of the literature. RESULTS: The patients included males and seven females. The transsphenoidal approach was adopted for all patients except one, who underwent right frontal craniotomy. Complete resection was achieved in nine cases, with grossly complete resection in five and partial removal in one. Of the PA subtypes available, five patients had nonfunctional pituitary adenomas, three had multiple-hormone secreting PAs, three had prolactin-producing adenomas, and one had a growth hormone-secreting adenoma. All of the patients' symptoms and abnormal endocrine test results resolved or were relieved after surgery. The mean follow-up time was 27.6±16.6 months. All of the patients recovered well and had no signs of recurrence during their follow-up, except for one patient. CONCLUSIONS: A cyst-like signal indicated on images or cystic materials encountered during operation in a patient with PA suggest the possibility of PA associated with RCC. Transsphenoidal surgery is the preferred approach and can resolve or relieve patients' symptoms to a great extent. Histologically, nonfunctional PA and prolactinoma are the most common types of PA coexisting with RCC; the mechanisms of PA associated with RCC need to be investigated further.


Asunto(s)
Adenoma/complicaciones , Quistes del Sistema Nervioso Central/complicaciones , Neoplasias Hipofisarias/complicaciones , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Adulto , Anciano , Quistes del Sistema Nervioso Central/diagnóstico por imagen , Quistes del Sistema Nervioso Central/cirugía , Femenino , Estudios de Seguimiento , Hormona del Crecimiento/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos/métodos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Estudios Retrospectivos
8.
Acta Neurochir (Wien) ; 160(10): 1989-1999, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30109498

RESUMEN

BACKGROUND: Mixed gangliocytoma-pituitary adenoma is an extremely rare tumor occurring in the sellar region, histologically composed of both gangliocytic and pituitary adenomatous architectures. The histogenesis of these tumors remains unknown, and the diagnosis, treatment, and prognosis are yet to be fully understood. METHODS: We retrospectively reviewed the clinical, radiological, and histopathological profiles from a series of 20 patients with sellar mixed gangliocytoma-pituitary adenomas. All patients underwent surgical tumorectomy via an endoscopic or microscopic transsphenoidal approach. Perioperative magnetic resonance imaging (MRI) and computed tomography (CT) data were reviewed. Immunohistochemical stains and electron microscopy examination were performed. Follow-up outcomes were presented. RESULTS: This case series consisted of 13 females and seven males (age range, 20-59 years; mean age, 42.3 ± 11.2 years). Preoperative endocrine examination showed elevated growth hormone (GH) in nine patients and hyperprolactinemia in eight patients. The tumors were positive for GH in 15 cases, prolactin in 13 cases, adrenocorticotropic hormone in three cases, and thyroid-stimulating hormone in one case. Gross total resection was achieved in 15 patients, and subtotal resection in five patients. During an average follow-up period of 42.5 ± 29.0 months, no recurrence was noted. CONCLUSIONS: The clinical and neuroimaging features of sellar mixed gangliocytoma-pituitary adenomas are non-specific, and invasion into the cavernous sinus is common. Surgical resection via a transsphenoidal approach is the preferred treatment, and the surgical outcomes are favorable. Moreover, our histopathological findings are more likely to support the theory that mixed gangliocytoma-pituitary adenoma originates from the neuronal transdifferentiation of adenomatous cells.


Asunto(s)
Adenoma/patología , Ganglioneuroma/patología , Neoplasias Hipofisarias/patología , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Adulto , Femenino , Ganglioneuroma/diagnóstico por imagen , Ganglioneuroma/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Tomografía de Emisión de Positrones
9.
Pituitary ; 20(6): 661-667, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28823099

RESUMEN

PURPOSE: This study aimed to explore different aspects of executive function in patients with acromegaly and investigate the cause of dysexecutive syndrome in these patients. METHODS: We conducted five typical executive function tests (Stroop test, verbal fluency [VF] test, Hayling Sentence Completion Test [HSCT], N-back test, and Sustained Attention to Response Task [SART]) on 42 acromegalic patients and 42 strictly matched healthy controls. Comparative analyses were conducted for five major executive function domains. The Dysexecutive Questionnaire (DEX) was used to assess patients' subjective feelings about their executive function. All patients underwent a magnetic resonance imaging (MRI) examination and a blood test to determine their pituitary hormone levels before the tests were performed. RESULTS: The patients exhibited worse results on the Stroop test, VF test, HSCT and N-back test compared to the healthy control group. Moreover, part B of the HSCT and the N-back test performance were negatively correlated with IGF-1 concentrations, and the duration of the disease was significantly associated with the Stroop color task results. CONCLUSIONS: Acromegalic patients were severely impaired in semantic inhibition, executive processing, working memory and executive inhibition, and they have realized a portion of these deficits. A high level of IGF-1, disease duration may contribute to the impairment of specific aspects of executive function.


Asunto(s)
Acromegalia/complicaciones , Acromegalia/fisiopatología , Función Ejecutiva/fisiología , Acromegalia/metabolismo , Adulto , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/metabolismo , Trastornos del Conocimiento/fisiopatología , Femenino , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas
10.
Acta Neurochir (Wien) ; 159(10): 1803-1813, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28699066

RESUMEN

BACKGROUND: Skull base chordoma (SBC) is a rare and refractory tumor with a high rate of relapse. We aimed to investigate the relationships between different treatment measures and progression-free survival (PFS) outcomes. METHODS: Data from 234 SBC patients from one institution were retrieved from a prospectively maintained database. After grouping, the clinicopathological features and mean estimated PFS times were subject to inter-group and intra-group comparisons, and prognostic factors of PFS were estimated by statistical analyses. Two typical primary patients who suffered from repeated tumor relapses are described. RESULTS: In addition to pathological subtype (p = 0.005), the initial treatment measure for the primary cases (n = 180) was identified as an independent factor of tumor progression (p = 0.002). The patients with gross total resection exhibited the best mean estimated PFS time (109.5 months). Patients with intralesional resection exhibited the shortest PFS time (38.3 months), with an almost significant difference (p = 0.058) compared to those with adjuvant radiotherapy following intralesional resection (56.6 months). For the recurrent group (n = 54), marginal resection (p = 0.007) and adjuvant radiotherapy (p = 0.041) were confirmed as independent protective factors for PFS. The longest mean PFS time (60.3 months) was noted in those patients who received marginal resection followed by adjuvant radiotherapy. CONCLUSIONS: Treatment measures were crucial for post-surgical tumor progression in both primary and recurrent cases. For primary cases, gross total resection and adjuvant radiotherapy offered more PFS benefits to all patients and those who underwent intralesional resection. Marginal resection and adjuvant radiotherapy, which are proposed as a general treatment paradigm for primary tumors, were also equally effective when applied to relapsing tumors.


Asunto(s)
Cordoma/mortalidad , Recurrencia Local de Neoplasia/mortalidad , Neoplasias de la Base del Cráneo/mortalidad , Adolescente , Adulto , Anciano , Niño , Cordoma/patología , Cordoma/cirugía , Terapia Combinada , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Radioterapia Adyuvante , Estudios Retrospectivos , Neoplasias de la Base del Cráneo/patología , Neoplasias de la Base del Cráneo/cirugía , Tasa de Supervivencia , Adulto Joven
11.
Neurosurg Rev ; 39(4): 671-83, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27334626

RESUMEN

This study summarized clinical manifestations, surgical management, histological grading, and long-term outcome of jugular foramen meningiomas (JFMs). Retrospective study was performed in 22 consecutive patients with primary JFMs from January 2004 to October 2010, enrolling 10 men and 12 women with average age of 39.4 (14-57 years). The most common initial symptom is hearing disorder, followed by lower cranial nerve dysfunctions. The tumor was classified into type I (intracranial) in 1, type II (intracranial) in 15, type IV (intracranial-extracranial) in 6, and none type III (extracranial). Surgical approaches mainly included retrosigmoid in 7, far lateral in 10, and juxtacondylar in 5, with some variations. The gross total resection was achieved in 15 cases and subtotal resection in 7. Fourteen patients (63.6 %) developed new or worse neurological deficits immediately after operation, of whom 11 (78.6 %) got alleviation. Postoperatively, keeping airway patency and prevention from aspiration pneumonia is very important. Nasotracheal intubation is much more tolerated than orotracheal intubation for postoperative patient management. WHO grade 2 was found in four cases (18.2 %) and grade 3 in one. During the average time of follow-up in 83.2 months, only one (grade 3) died of tumor regrowth 20 months after surgery and radiosurgery. Five of 17 patients of grade 1 developed tumor regrowth. Radiosurgery provides a good tumor control for tumor regrowth in grade 1, or postoperative grade 2 tumor. In conclusion, JFMs has a favorable long-term overall survival; however, neurological preservation is still challenging, especially low cranial nerves.


Asunto(s)
Nervios Craneales/cirugía , Tumor del Glomo Yugular/cirugía , Neoplasias Meníngeas/cirugía , Meningioma/cirugía , Procedimientos Neuroquirúrgicos , Adolescente , Adulto , Nervios Craneales/patología , Femenino , Tumor del Glomo Yugular/patología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/patología , Meningioma/diagnóstico , Meningioma/patología , Persona de Mediana Edad , Radiocirugia , Estudios Retrospectivos , Adulto Joven
12.
Biochem Biophys Res Commun ; 467(2): 261-7, 2015 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-26435504

RESUMEN

The T gene plays a key role in chordoma pathology. To investigate the role of T gene isoforms in chordoma, 22 skull base chordomas, three chordoma cell lines and 9 infant notochords, which were used as normal controls, were collected. We first conducted droplet digital PCR to quantify the absolute expression levels of the long and short isoforms of the T gene (T-long and T-short, respectively) and revealed that T-long was dominantly expressed in all chordomas and chordoma cell lines, but not in the notochords. The T-long/T-short ratio was significantly different between the chordomas and the notochords. Next, we validated the isoform expression pattern at protein expression level using Western blot in 9 chordomas. Furthermore, the T gene single nucleotide polymorphism site rs2305089, which is the only marker reported to be associated with chordomas, was sequenced in all of the chordoma samples. Association between rs2305089 and T-long/T-short ratio was not significant, indicating it was not involved in T gene alternative splicing. In conclusion, two T gene isoforms were investigated in skull base chordomas and chordoma cell lines, and the longer isoform was dominantly expressed. The distinct expression patterns of these T gene isoforms may contribute to the pathogenesis of skull base chordomas. However, further studies on the function of these isoforms are needed.


Asunto(s)
Cordoma/genética , Proteínas Fetales/genética , Notocorda/metabolismo , Neoplasias de la Base del Cráneo/genética , Proteínas de Dominio T Box/genética , Adolescente , Adulto , Empalme Alternativo , Línea Celular Tumoral , Niño , Cordoma/diagnóstico , Cordoma/metabolismo , Cordoma/patología , Proteínas Fetales/metabolismo , Feto , Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Neoplasias de la Base del Cráneo/diagnóstico , Neoplasias de la Base del Cráneo/metabolismo , Neoplasias de la Base del Cráneo/patología , Proteínas de Dominio T Box/metabolismo
13.
J Neurooncol ; 125(2): 369-75, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26341373

RESUMEN

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic disorder characterized by marked phenotypic variability and age-dependent penetrance. This disease is caused by germline mutations in the VHL tumor suppressor gene. Systematic physical examinations, imaging assessments and molecular genetic tests for the VHL gene were performed in a large Chinese VHL family. The examined Chinese VHL family, which has 25 members from four generations, including 7 diagnosed VHL patients and 2 asymptomatic mutation carriers. The average ages of first onset for generations I, II, and III were 37, 30 and 16, respectively. The male:female ratio among VHL patients was 6:1. Molecular genetic investigations detected the c.433C>T [p.Q145X] nonsense mutation in the VHL gene. Molecular modeling of the VHL-ElonginC- ElonginB-HIF-1α complex predicted that the p.Q145X mutation markedly alters the L7 loop structure of the ß-domain of the VHL protein (pVHL), destabilizes the VHL-HIF-1αcomplex, and induces the truncation of pVHL. We speculate that the p.Q145X nonsense mutation leads to relatively obvious familial aggregation. This mutation causes the type I phenotype of VHL disease and is associated with a high risk of retinal and central nervous system (CNS) hemangioblastomas (HGBs) and visceral cysts, but a low risk of renal cell carcinoma. Moreover, within a VHL family, the average ages of first onset became younger in successive generations, and the CNS HGBs are more likely to occur in male patients.


Asunto(s)
Codón sin Sentido/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Enfermedad de von Hippel-Lindau/genética , Adolescente , Adulto , Animales , Pueblo Asiatico , Encéfalo/patología , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Médula Espinal/patología , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/química , Adulto Joven , Enfermedad de von Hippel-Lindau/patología
14.
Neurosurg Rev ; 38(1): 71-86; discussion 86-7, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25319087

RESUMEN

This study seeks to elucidate the prognostic predictors and outcomes of recurrent/progressive petroclival meningiomas (PCMs). We reviewed our cohort of 39 recurrent/progressive PCMs (27 females, 69.2%) and analyzed the results from the literature. Twenty-three patients underwent reoperations, 2 received radiotherapy alone, and 14 declined any treatment. During a follow-up of 70.4 months, 7 patients experienced a 2nd recurrence/progression (R/P) and 18 patients died. In the 23 patients, gross total resection (GTR), subtotal resection (STR), and partial resection (PR) were achieved in 8, 8, and 7 patients, respectively. The percentage of the 2nd R/P-free survival of GTR, STR, and PR was 88%, 67%, and 40%, respectively. The overall survival following the 1st R/P of GTR, STR, and PR was 88%, 63%, and 33%, respectively. Patients rejecting treatment suffered from significantly poor overall survival (7%; p = 0.001) and short survival duration (42.0 months; p = 0.016) compared with that of the patients receiving treatment (67% and 86.9 months). The GTR was the only independent favorable predictor. In the 21 included studies with 98 recurrent/progressive PCM patients, 17 patients presented with a 2nd R/P and 10 died of a 2nd R/P; patients undergoing observation had a significantly poor tumor regrowth control rate compared with patients undergoing surgery (p = 0.004) or radiotherapy alone (p < 0.001). Proactive treatment should be performed for patients with recurrent/progressive PCMs. Observation can lead to relentless outcome. GTR as a preferential therapeutic strategy should be pursued as far as possible on the condition of minimal functional impairment.


Asunto(s)
Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias de la Base del Cráneo/diagnóstico , Adulto , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Neoplasias Meníngeas/cirugía , Meningioma/cirugía , Persona de Mediana Edad , Recurrencia Local de Neoplasia/cirugía , Procedimientos Neuroquirúrgicos/métodos , Pronóstico , Neoplasias de la Base del Cráneo/patología , Neoplasias de la Base del Cráneo/cirugía , Resultado del Tratamiento
15.
Neurosurg Rev ; 37(1): 147-52, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24030754

RESUMEN

The authors describe a method of using the C7-T3 spinous processes visualized on MRI as landmarks for localizing thoracic spinal lesions in 19 cases. This method included six steps. First, the "spinous process nearest to the lesion that was visible on the MRI image" was identified. Second, a dashed line was drawn on the image through the tip of the identified spinous process perpendicular to the skin surface. Third, two additional dashed lines parallel to the first dashed line were drawn from the upper and lower margins of the lesion. Fourth, the distances between the identified process and the two additional dashed lines were measured. Fifth, the same "spinous process nearest to the lesion" was identified by palpation and marked on the patient's skin. Sixth, the upper and lower margins of the lesion were marked on the skin according to the two distances measured in step 4. After the lesion was exposed, the deviations of the lesion margins were measured. All 19 cases of the thoracic spinal lesions were localized correctly using the C7-T3 spinous processes visualized on the MRI images as landmarks without any other evaluation methods. The deviation value for the localization of the tumor margin was 4.1 ± 1.47 mm. Using the C7-T3 spinous processes as landmarks is an accurate, simple, and economic method for lesion localization during thoracic spinal surgery.


Asunto(s)
Puntos Anatómicos de Referencia , Enfermedades de la Columna Vertebral/patología , Enfermedades de la Columna Vertebral/cirugía , Vértebras Torácicas/anatomía & histología , Vértebras Torácicas/cirugía , Adulto , Femenino , Humanos , Hipoestesia/etiología , Procesamiento de Imagen Asistido por Computador , Dolor de la Región Lumbar/cirugía , Imagen por Resonancia Magnética , Masculino , Meningioma/patología , Meningioma/cirugía , Persona de Mediana Edad , Debilidad Muscular/etiología , Procedimientos Neuroquirúrgicos/métodos , Complicaciones Posoperatorias/epidemiología , Neoplasias de la Columna Vertebral/patología , Neoplasias de la Columna Vertebral/cirugía , Adulto Joven
16.
World J Surg Oncol ; 12: 185, 2014 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-24927751

RESUMEN

BACKGROUND: Malignant gliomas are the most common form of primary malignant brain tumor. It has recently been suggested that genetic changes are involved in the progression of malignant gliomas. In previous studies, a novel gene, p42.3, was characterized as a tumor-specific gene that encodes a mitosis phase-dependent expression protein which is expressed in gastric cancer, but not in matched normal tissues. METHODS: In a series of 200 human brain gliomas and 13 normal tissues, we performed RT-PCR and mRNA in situ hybridization for analysis of p42.3 gene expression in gliomas, including astrocytoma (grade 2), oligoastrocytomas (grade 2), anaplastic oligoastrocytomas (grade 3), glioblastomas (grade 4) and normal tissues. Also, the mRNA expression was detected in gliomas by in situ hybridization. After producing polyclonal antibody to p42.3, we further tested p42.3 protein expression in astrocytomas and glioblastomas by immunohistochemistry and Western blot analysis. RESULTS: Our results demonstrated that overexpression of the p42.3 gene is detected in gliomas, but not in normal brain tissues. Importantly, p42.3 mRNA expression is correlated with the pathological features of gliomas. In addition, p42.3 protein is expressed in both the cytoplasm and the nucleus in astrocytomas, whereas this protein appeared in the cytoplasm in glioblastomas. CONCLUSIONS: These results indicate that p42.3 might be involved in carcinogenesis as a potential molecular marker for malignant gliomas.


Asunto(s)
Biomarcadores de Tumor/metabolismo , Neoplasias Encefálicas/metabolismo , Encéfalo/metabolismo , Proteínas de Ciclo Celular/metabolismo , Glioma/metabolismo , Animales , Formación de Anticuerpos , Biomarcadores de Tumor/genética , Northern Blotting , Western Blotting , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/inmunología , Femenino , Estudios de Seguimiento , Glioma/genética , Glioma/patología , Humanos , Técnicas para Inmunoenzimas , Hibridación in Situ , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Proteínas Nucleares , Pronóstico , ARN Mensajero/genética , Conejos , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
17.
Neurosurgery ; 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38842326

RESUMEN

BACKGROUND AND OBJECTIVES: Cavernous malformations (CMs) occurring in the cranial nerve (CN) are extremely rare, and there is currently no comprehensive review on CN CMs, leading to a lack of sufficient understanding of CN CMs. We aimed to systematically review all published CN CM cases; summarize the epidemiology, clinical manifestations, treatment, and prognosis of CN CMs; and identify factors influencing the prognosis of CN CMs. METHODS: This systematic review identified all cases potentially diagnosed with CN CM through a systematic search of PubMed, SCOPUS, Web of Science, and Cochrane databases. This represents the most comprehensive systematic review to date. We classified CN CMs based on their anatomic origins. Patient characteristics, disease manifestations, treatment approaches, and prognosis were summarized descriptively. Further analysis was conducted to identify factors influencing the prognosis of CN CMs. RESULTS: The final analysis included 108 articles (127 individual patient cases). The optic nerve (49/128, 38.3%) is the most commonly affected nerve. Notably, CN CMs can be categorized into 3 types: Intraneural, Perineural, and Extraneural. Preoperative nerve function status and novel classification were associated with the prognosis of CN CMs (P = .001; P < .001). The postoperative neurological deterioration rate for the Intraneural type was 19/37 (51.4%); for the Extraneural type, it was 13/69 (18.8%); and for the Perineural type, it was 1/22 (4.5%) (P < .001). CONCLUSION: We reviewed all the published CN CMs to date, offering a comprehensive description of CN CMs for the first time and identifying prognostic factors. The classification of CN CMs proposed in this study could serve as guidance for the selection of intraoperative treatment regimens. The findings of this systematic review are expected to provide a foundation for clinical decision-making in this crucial rare disease and lay the groundwork for developing relevant clinical guidelines.

18.
Tumour Biol ; 34(3): 1559-67, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23404407

RESUMEN

The purpose of this study was to elucidate the relationship between pituitary tumor transforming gene (PTTG) and invasiveness in pituitary macroadenomas and to determine the association between PTTG and both the tumor proliferative activity marker proliferation cell nuclear antigen (PCNA) and the angiogenic factor basic fibroblast growth factor. A total of 70 patients with pituitary adenomas who underwent transsphenoidal or craniotomy surgical resection were enrolled. The average age were 42.5 ± 13.7 years (17-64 years) for the invasive group and 46.8 ± 12.1 years (16-71 years) for the non-invasive group, with no significant difference (P=0.179) between the two groups. RT-PCR analysis of a group of pituitary macroadenomas demonstrated that the expression levels of PTTG and PCNA in invasive pituitary adenomas were significantly higher than in non-invasive pituitary adenomas. Both factors are both closely related to the invasive growth of pituitary adenomas and may possibly serve as important markers of this growth. In conclusion, PTTG may promote invasive tumor growth by stimulating pituitary adenomas proliferation. The mechanisms of tumor growth promotion and invasion of the surrounding structures by PTTG need to be further explored.


Asunto(s)
Biomarcadores de Tumor/genética , Proteínas de Neoplasias/genética , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/patología , Adolescente , Adulto , Anciano , Biomarcadores de Tumor/metabolismo , Femenino , Factor 2 de Crecimiento de Fibroblastos/genética , Factor 2 de Crecimiento de Fibroblastos/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Proteínas de Neoplasias/metabolismo , Estadificación de Neoplasias , Neoplasias Hipofisarias/metabolismo , Pronóstico , Antígeno Nuclear de Célula en Proliferación/genética , Antígeno Nuclear de Célula en Proliferación/metabolismo , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Securina , Adulto Joven
19.
Neurosurg Rev ; 36(4): 587-93; discussion 593-4, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23775013

RESUMEN

The authors describe a modified anterior transpetrous approach (ATPA) for the surgical resection of 21 cases of petroclival meningiomas (PCMs). Briefly, a curved periauricular skin incision was used. The cerebellar tentorium and the dura on the petrous apex were coagulated and incised to expose the petrous apex bone fully. The drilling of the petrous apex bone was performed subdurally and began internally from the trigeminal impression, not exceeding 1.5 cm laterally, not exceeding 6 mm from the posterior edge of the petrous ridge, and not exceeding 8 mm in depth from the surface of the petrous bone. The tumors were removed totally in 12 (57.1%) cases, subtotally in 8 (38.1%) cases, and partially in 1 (4.8%) case. The transient neurological deficit includes mild oculomotor nerve palsy in three cases, abducens nerve palsy in six cases, language disorder in three cases, and mild hemiplegia in two cases. Facial numbness became worse postoperatively in six patients, and only two patients improved at 6 months after surgery. No death occurred in this series. The modified ATPA is an efficient treatment alterative for large or giant PCMs located at the medial and superior internal acoustic meatus with relatively low risk of complications.


Asunto(s)
Fosa Craneal Posterior/cirugía , Meningioma/cirugía , Procedimientos Neuroquirúrgicos/métodos , Neoplasias de la Base del Cráneo/cirugía , Adulto , Anciano , Pérdida de Líquido Cefalorraquídeo , Rinorrea de Líquido Cefalorraquídeo/epidemiología , Rinorrea de Líquido Cefalorraquídeo/etiología , Traumatismos del Nervio Craneal/epidemiología , Traumatismos del Nervio Craneal/etiología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Hueso Petroso/cirugía , Complicaciones Posoperatorias/epidemiología , Radiocirugia , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
20.
Acta Neurochir (Wien) ; 155(8): 1367-83, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23801089

RESUMEN

BACKGROUND: Surgical management of petroclival meningiomas is challenging. Various and inconsistent outcome and prognostic factors of the lesions have been evaluated previously. In the present study, the surgical outcome, philosophy, and experience of petroclival meningiomas are detailed based on a large patient series. METHODS: A series of 259 patients with petroclival meningiomas (70 males and 189 females) were surgically treated. Clinical charts and radiographs were reviewed. Follow-up results were evaluated. RESULTS: The preoperative Karnofsky Performance Scale (KPS) score was 74.2 ± 10.5. The mean tumor size was 4.3 ± 1.0 cm. The gross total resection (GTR) rate was 52.5%. During a mean follow-up period of 55.3 months, recurrence/progression (R/P) occurred in 11 patients. The recent KPS score was 78.4 ± 22.7, it improved in 139 (57.2%) patients and stabilized in 53 (21.8%) patients, and 201 (82.7%) patients lived independently. The risk factors affecting the KPS score included (but were not limited to) age ≥ 60, preoperative KPS ≤ 60, and brainstem edema. The adverse factors contributing to R/P-free survival included (but were not limited to) non-total resection and the absence of the subarachnoid space. The R/P-free survival rate was 94.5% at 5 years and 91.2% at 9 years. The overall survival rate was 94.7% at 5 years and 94.7% at 9 years. CONCLUSIONS: Favorable outcomes from petroclival meningiomas could be achieved by microsurgery. Neurological function and quality of life were prioritized, and GTR was attempted. Risk factors should be considered in surgical schemes, and tumor recurrence should be aggressively monitored and treated.


Asunto(s)
Neoplasias Meníngeas/cirugía , Meningioma/cirugía , Microcirugia , Adulto , Anciano , Progresión de la Enfermedad , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Neoplasias Meníngeas/mortalidad , Neoplasias Meníngeas/patología , Neoplasias Meníngeas/radioterapia , Meningioma/mortalidad , Meningioma/patología , Meningioma/radioterapia , Microcirugia/métodos , Persona de Mediana Edad , Recurrencia Local de Neoplasia/prevención & control , Recurrencia Local de Neoplasia/cirugía , Complicaciones Posoperatorias/mortalidad , Complicaciones Posoperatorias/patología , Complicaciones Posoperatorias/radioterapia , Complicaciones Posoperatorias/cirugía , Tasa de Supervivencia , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Adulto Joven
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