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BACKGROUND: Gliomas account for 30% of primary brain tumors in adults, and despite the scientific progress in the field, recurrence is prevalent. Glioma Stem Cells (GSCs) can generate tumor cells in vivo and in vitro and they are associated with treatment resistance, tumor progression, and recurrence. Furthermore, the expression of SOX transcription factors (SOX1, SOX2, SOX9) in these cells is responsible for maintaining an oncogenic genotype and is associated with an aggressive tumor phenotype. The relationship between SOX transcription factors and their prognostic role in recurrent gliomas has not been described in detail. Therefore, we set out to describe the relationship between SOX expression and Progression-free Survival (PFS) and Overall Survival (OS) in patients with recurrent gliomas. METHODS: In this observational study, we have retrospectively analyzed 69 patients, of which 20 met the inclusion criteria. The clinical, radiological, and histopathological findings have been described, and survival analysis has been performed according to SOX expression for PFS and OS. RESULTS: We found SOX1, SOX2, and SOX9 to show a non-statistically significant trend with increasing histopathological grade, co-expressed with Ki67, a cell proliferation factor. CONCLUSION: There has been found an inversely proportional correlation between the degree of immunopositivity of SOX1 and OS. A higher SOX1 immunopositivity could predict a worse clinical prognosis. There has also been found an interaction between a pluripotent genotype (GSC) and cell proliferation.
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Background: Pituitary neuroendocrine tumors (PitNETs) are a diverse group of benign neoplasms that account for a significant proportion of intracranial tumors (13%). The coexistence of PitNET with other intracranial lesions, such as meningiomas and intracranial aneurysms, has been constantly reported in the literature; yet, the pathophysiological mechanisms remain unknown, and the appropriate management is controversial. This study aims to describe the clinical characteristics, surgical treatment, and outcomes of patients with PitNET with coexisting intracranial lesions in a single healthcare center. Methods: A retrospective analysis was conducted on 12 patients who underwent surgical treatment for PitNET and another intracranial lesion at our single tertiary referral center over 15 years from January 2008 to May 2023. Results: Among these coexisting lesions, aneurysms were the most commonly found (41.67%), followed by meningiomas (33.33%). Surgical intervention for both lesions was performed in a single-stage procedure for most cases (75%), employing transcranial, endoscopic endonasal, and combined approaches. We found low preoperative Karnofsky Performance Scale scores in three patients, with significant differences in functional outcomes. Conclusion: These findings contribute to the limited knowledge about PitNET coexisting with other intracranial lesions and emphasize the importance of patient-tailored, multidisciplinary management in these unusual scenarios.
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Cerebral ischemic complications after pituitary surgery are not frequently reported. Multiple mechanisms have been proposed, including vasospasm, and delayed cerebral ischemia resulting from postoperative subarachnoid bleeding. Given the unknown etiology of vasospasm following these situations, little is known about its prevention. Through a case report and bibliographic review, the authors warn about the importance of recognizing key signs postoperatively that could indicate increased risk for cerebral vasospasm and must be recognized in a timely manner, with appropriate treatment strategies implemented once these symptoms present.
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Background: Sinonasal neuroendocrine carcinoma is a rare head and neck tumor that represents only 5% of sinonasal neoplasms. This lesion has a high risk of invasion to adjacent structures such as the orbit, skull base, and soft tissues, with symptoms usually being nonspecific. Most cases are diagnosed in late stages, decreasing overall survival without treatment. To date, there is no consensus on management given its low prevalence; however, it has been shown that multimodal therapy, with the correct surgical approach as the mainstay, offers a better disease-free prognosis. Case Description: A 46-year-old woman presented with a 1 year history of nasal symptoms, characterized by obstruction and epistaxis. Imaging studies showed an extra-axial mass causing skull base erosion and displacement of the right fronto-orbital region, without invasion of brain parenchyma or meninges. A biopsy was performed and an unresectable poorly differentiated sinonasal neuroendocrine carcinoma was diagnosed. Treatment with radio and chemotherapy was initiated and, as the tumoral volume decreased, she was referred for neurosurgical intervention; an endonasal endoscopic approach was performed. Gross total resection was achieved and the patient was discharged without postoperative complications and no residual lesion on imaging. Conclusion: We describe the evolution of a rare advanced-stage neoplasm. It highlights that despite receiving an initial diagnosis of an unresectable mass, multimodal therapy, and an adequate surgical approach deemed the entire lesion to be resected. Despite the favorable clinical evolution, the follow-up of neuroendocrine carcinoma is prioritized as a neoplasm with a high rate of recurrence and metastasis.
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Background: Giant intracranial aneurysms cause symptoms due to mass effect and can mimic other lesions in imaging studies. The coexistence of tumors and aneurysms is relatively rare, with meningiomas being the predominant tumors found in such cases. The relationship between these two entities is complex and represent a neurosurgical challenge. Case Description: A 61-year-old woman presented with intermittent headache, vertigo, right peripheral facial palsy, hearing loss, and left hemiparesis. Magnetic resonance imaging revealed two lesions: a supratentorial paraclinoid lesion in the left frontotemporal region and a right infratentorial extra-axial mass, suggestive of a meningioma. The patient underwent a two-staged surgical intervention to address both lesions. Conclusion: In this particular case, the lesions were located on different sides and in different cranial compartments, making it even rarer.
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INTRODUCTION: Clinoidal meningiomas are currently among the intracranial meningiomas with the greatest neurosurgical complexity, morbidity, and mortality associated with their resection. The worldwide literature has described tumor size (>4 cm3), patient age (>60 years), and invasion of the cavernous sinus as factors associated with a worse clinical outcome following surgery. METHODS: We describe the series of cases of patients with clinoidal meningiomas who underwent microsurgical resection at our institution between January 2014 and March 2019. The intention was to analyze the multiple preoperative variables, such as the patient's demographic, tumor, and surgical characteristics, such as the Al-Mefty Classification to find a relationship with the patient's clinical outcome during their postoperative follow-up. Results: Death occurred in 4.8% of the cases. Postoperative morbidity was documented in 42.9%, the most frequent being ophthalmoparesis, followed by worsening of visual acuity, and new onset motor deficits. Radiological characteristics were assessed based on preoperative MRI. The maximum diameter, midline shift, invasion of the cavernous sinus, arterial encasement, and peritumoral edema were evaluated. Average intraoperative bleeding was 1.3 L. The most frequent histological grade was World Health Organization (WHO) grade 1 in 85.6% of the cases. Complete resection was obtained in 52.4% of the cases; 42.8% received fractionated stereotactic radiotherapy after surgery for disease control, and one received radiosurgery. Recurrence occurred in 33.3%. The average follow-up in months was 23.8. Conclusions: Demographic factors and tumor characteristics in clinoidal meningioma surgery are related to the subtype of meningioma according to the Al-Mefty Classification and impact directly the degree of resection, progression of the disease, and degree of postoperative complications. To achieve maximal resection while minimizing morbidity and mortality, these factors must be considered to decide on an appropriate approach and specific plan for each case.
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BACKGROUND: Glioblastoma (GB) represents the most aggressive type of glioma with a poor prognosis despite the therapies used. As of today, data availability for therapeutic and prognosis experiences is limited. The cornerstone for this study is to create a framework overview of Mexico´s experience throughout 17 years of research. METHODS: Retrospective analysis from 2000 to 2017 including patients with a histological diagnosis of GB was performed. Data were collected from the ABC Medical Center and the Neurology and Neurosurgery National Institute. RESULTS: One hundred and thirty-seven patients were included with a mean age of 54 years. Histological diagnosis was made in all patients, of which 58.1% had a total resection, 31.6% had a partial resection, and 10.3% of them underwent biopsy. In all cases, patients received treatment under the following conditions: 10 patients were treated exclusively with stereotactic radiotherapy (RT). In 55 patients, a combination of RT and TMZ was used, the other 40 patients received RT plus CBP. Eighteen patients RT added to nitrosourea medication and lastly, 14 patients received a combination of RT/TMZ and Bevacizumab, a monoclonal antibody that inhibits the formation of blood vessels (BVZ). The progression-free survival (PFS) and overall survival (OS) were higher in the RT/TMZ/BVZ group (16.5 to 22.9 months) and the RT/TMZ group (11 to 17 months), the prognostic parameters included: Isocitrate dehydrogenase 1 mutation (IDH1), usage of BVZ and TMZ in the PLS and OS, considering as well, age range (<70 years) as a favorable prognostic factor. CONCLUSIONS: GB represents the most frequent intracranial neoplasia. Combined fractionated stereotactic RT added to Temozolomide and Bevacizumab received in our population reports favorable and superior results compared to the ones described in the literature. Further studies are necessary to know the biological behavior of our population.
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Collision tumors are rare neoplasms composed of two different types of histological tissues in the same organ. The most frequent association with cerebral cavernous malformations (CCMs) are meningiomas, gliomas, and gangliogliomas, while the most frequent sellar collision is between pituitary adenoma (PA) and craniopharyngiomas, and still very few cases have been reported. We present the case of a 43-year-old woman who started two months ago with a fall from her height followed by severe headache and bilateral hemianopsia. An isointense, enhancing sellar tumor, and a right frontal lesion compatible with CCM were observed on MRI. Surgery was performed through anterior interhemispheric and endoscopic transnasal approaches for the cavernoma and the sellar tumor, respectively, removing both lesions and sending them to pathology. The sellar tumor corresponded to a PA showing positive immunohistochemistry for prolactin and follicle-stimulating hormone (FSH). In the post-op period, the patient developed a seizure and diabetes insipidus, for which she received appropriate treatment. Our findings were conclusive with a collision tumor, since both lesions presented two different histological tissues. Different densities were observed in both lesions using imaging studies, which were later confirmed with histopathology and immunohistochemistry.
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OBJECTIVE: According to DSM-5, catatonia and delirium are mutually exclusive clinical syndromes. The investigators explored the co-occurrence of delirium and catatonia (i.e., catatonic delirium) and the clinical significance of this syndrome with a sample of neurological patients. METHODS: This prospective study with consecutive sampling included patients diagnosed with delirium at the National Institute of Neurology and Neurosurgery of Mexico. DSM-5 criteria for delirium, the Confusion Assessment Method, and the Delirium Rating Scale-Revised-98 were used to select and characterize patients. Catatonia was assessed using the Bush-Francis Catatonia Rating Scale and DSM-5 diagnostic criteria. Logistic regression analysis was performed to identify etiological factors associated with catatonic delirium. RESULTS: A total of 264 patients with delirium were included, 61 (23%) of whom fulfilled the criteria for catatonia and delirium simultaneously. Brain tumors, subarachnoid hemorrhage, acute hydrocephalus, and ischemic stroke were associated with delirium without catatonic signs. Catatonic delirium was observed among patients with encephalitis, epilepsy, brain neoplasms, and brain tuberculosis. After multivariate analysis, the association between catatonic delirium and encephalitis (both viral and anti-N-methyl-d-aspartate receptor [NMDAR]) was confirmed. CONCLUSIONS: Delirium is a common complication of neurological diseases, and it can coexist with catatonia. The recognition of catatonic delirium has clinical significance in terms of etiology, as it was significantly associated with viral and anti-NMDAR encephalitis.
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Encefalite Antirreceptor de N-Metil-D-Aspartato , Catatonia , Delírio , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Catatonia/complicações , Catatonia/etiologia , Delírio/complicações , Delírio/etiologia , Humanos , Estudos ProspectivosRESUMO
Endoscopic endonasal approach (EEA) techniques have evolved significantly in recent years, with better techniques guaranteeing better surgical results in the treatment of sellar and parasellar region pathologies. Although the complications associated with the EEA have been widely described, with cerebrospinal fluid fistulas being the most commonly reported, some rare complications, such as vasospasm after surgery in extended approaches, turn out to be poorly understood. Here, we describe a case of middle cerebral artery delayed vasospasm associated with the resection of a non-functional pituitary adenoma via an EEA.
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The surgical management of lesions within or around the brainstem is usually associated with significant morbidity. Even though several safe entry zones have been described for brainstem lesions, especially cavernous malformations (CMs), their resection remains a challenge due to the convergence of highly functional nerve tracts and nuclei in this rather small structure. Moreover, the ventral location of some of these lesions usually calls for complex surgical approaches involving extensive bone drilling and significant manipulation of neurovascular structures. The expanded endoscopic endonasal approach has been subject to considerable advancements, widening the range of lesions accessible through this route. In this operative video, we describe the surgical nuances of an endoscopic endonasal transclival resection of a ventral pontine CM (Figures 1 and 2). A pedicled nasoseptal flap was harvested for reconstruction, gaining access to the sphenoid rostrum, which was resected. The sellar floor was removed to expose the middle third of the clivus, which was drilled out until posterior fossa dura mater was identified. A centered dural incision was performed to expose the ventral pons and basilar artery. Using image guidance, a limited pial incision over the most superficial aspect of the lesion allowed a prompt drainage of the hematoma and resection of the CM. The surgical cavity was directly inspected through the endoscope, confirming a complete resection. Reconstruction was carried out in a multilayered fashion. The patient presented a postoperative cerebrospinal fluid leak, which resolved with a lumbar drain. Neurologic status remained unchanged after surgery, with the patient displaying a favorable clinical outcome (Video 1).
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Endoscopia , Ponte , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/cirurgia , Endoscopia/métodos , Humanos , Nariz , Ponte/diagnóstico por imagem , Ponte/cirurgia , Base do Crânio/cirurgiaRESUMO
BACKGROUND: Cavernous sinus (CS) invasion is found in 15-20% of pituitary adenomas; it represents a poor prognosis factor and a surgical challenge even in experienced pituitary centers. We present our experience and technical note description for surgical management of pituitary adenomas with CS invasion in acromegaly by the transsellar lateral approach with an endoscopic endonasal transsphenoidal route. METHOD: prospective case series of patients who underwent endoscopic endonasal surgery for Growing Hormone (GH) producing adenomas with CS invasion treated at the Neurosurgery departments of National Institute of Neurology and Neurosurgery in Mexico City, and of Toluca Medical Center of Social Security Institute of the State of Mexico and Provinces between January 2014 and March 2019. RESULTS: Thirty-two of 94 patients with diagnosis of pituitary adenoma treated at our institutions (34%) had acromegaly; thirteen of patients with acromegaly diagnosis met the inclusion criteria for CS invasion. Postoperative images reported gross total resection in 10 patients (76.9%). Mean follow-up time was 28.3 months. Remission criteria were achieved in nine patients (69.2%), with one of these patients (11.1%) having recurrence during follow up. All patients with no biochemical remission had improvement in GH and IGF profiles. Three patients without remission underwent radiosurgery (14Gy), and one patient had remission after the procedure. CONCLUSIONS: We consider this to be a safe and efficient approach for tumors invading CS, when surgical team have good experience in endoscopy of the skull base and reconstruction techniques, appropriate instruments are available, and tumor has soft consistency.
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Adenoma , Seio Cavernoso , Adenoma/cirurgia , Seio Cavernoso/cirurgia , Endoscopia , Hormônio do Crescimento , Humanos , México , Recidiva Local de Neoplasia , Estudos ProspectivosRESUMO
ABSTRACT: Cerebrospinal fluid (CSF) leakage caused by skull base fracture represents high risks of bacterial meningitis, and a rate of mortality of 8.9%. Endoscopic endonasal repair of CSF leaks is quite safe and effective procedure with high rates of success. The aim of this study is to describe our technique for management of skull base CSF leaks secondary to craniofacial trauma based on the anatomic location of the leak. This is a retrospective case series of 17 patients with diagnosis of craniofacial trauma, surgically treated with sole endonasal endoscopic and combined endonasal/transcranial approaches with diagnosis of CSF leak secondary to skull base fractures. Seventeen patients met inclusion criteria for this study. Mean age was 46âyears old. Most common etiology was motor vehicle. Early surgery was performed in 8 patients, and late surgery in 9 patients. The most common site of CSF leak was at ethmoid cells or at the fronto-ethmoid junction in 9 patients. Thirteen patients (76.4%) were treated only with endonasal endoscopic technique, and 4 (23.5%) with hybrid surgery, combining endonasal endoscopic and cranial bicoronal approaches with nasal and pericranial vascularized flaps, and nasal mucosal free flaps. Mean hospital stay was 23.7âdays.The mean follow-up time was 25.6âmonths. When surgical reconstruction is indicated for CSF leaks secondary to skull base fractures, endonasal endoscopic techniques should be part of the surgical management either as a sole procedure, or in combination with classical transcranial approaches with high rates of success and low morbidity.
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Procedimentos de Cirurgia Plástica , Ferimentos não Penetrantes , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/cirurgia , Endoscopia , Humanos , Pessoa de Meia-Idade , Mucosa Nasal , Estudos Retrospectivos , Base do Crânio/cirurgiaRESUMO
BACKGROUND: Subarachnoid neurocysticercosis (NCC) is associated with high morbidity and mortality rates. Conventional transcranial approaches and transventricular endoscopy have been previously reported for extraparenchymal NCC and ventricular NCC, respectively. By October 2019, endonasal endoscopic approaches had not been used for the treatment of NCC. OBSERVATIONS: A 54-year-old-woman with NCC was admitted with acute neurological deterioration due to severe intracranial hypertension caused by massive subarachnoid NCC cysts, as evidenced on magnetic resonance imaging (MRI) with great brainstem compression. The case was discussed, and an endoscopic endonasal resection of the NCC cysts was scheduled. The diagnosis was confirmed by pathological anatomy. There were no complications in the surgery, with marked neurological improvement. Control MRIs demonstrated a significant reduction of NCC cysts. LESSONS: Minimally invasive approaches are an excellent alternative for skull-base tumoral and infectious pathology. Prior knowledge of the pathophysiology and the authors' experience in the management of patients with NCC allowed them to propose this approach, with optimal results.
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Astrocytoma is the most common type of primary brain tumor. The risk factors for astrocytoma are poorly understood; however, germline genetic variants account for 25% of the risk of developing gliomas. In this study, we assessed the risk of astrocytoma associated with variants in AGT, known by its role in angiogenesis, TP53, a well-known tumor suppressor and the DNA repair gene MGMT in a Mexican population. A case-control study was performed in 49 adult Mexican patients with grade II-IV astrocytoma. Sequencing of exons and untranslated regions of AGT, MGMT, and TP53 from was carried in an Ion Torrent platform. Individuals with Mexican Ancestry from the 1000 Genomes Project were used as controls. Variants found in our cohort were then assessed in a The Cancer Genome Atlas astrocytoma pan-ethnic validation cohort. Variants rs1926723 located in AGT (OR 2.74, 1.40-5.36 95% CI), rs7896488 in MGMT (OR 3.43, 1.17-10.10 95% CI), and rs4968187 in TP53 (OR 2.48, 1.26-4.88 95% CI) were significantly associated with the risk of astrocytoma after multiple-testing correction. This is the first study where the AGT rs1926723 variant, TP53 rs4968187, and MGMT rs7896488 were found to be associated with the risk of developing an astrocytoma.
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Angiotensinogênio/genética , Astrocitoma/genética , Neoplasias Encefálicas/genética , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , Variação Genética/genética , Proteína Supressora de Tumor p53/genética , Proteínas Supressoras de Tumor/genética , Adulto , Astrocitoma/epidemiologia , Astrocitoma/patologia , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/patologia , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-IdadeRESUMO
BACKGROUND: The type of sellar barrier observed between a pituitary tumor and cerebrospinal fluid (CSF) on preoperative magnetic resonance imaging (MRI) may predict intraoperative CSF leak during endonasal pituitary surgery. This is the first multicentric prospective cohort trial to study the sellar barrier concept and CSF leak rate during endoscopic pituitary surgery. METHODS: This multi-center, international study enrolled patients operated for pituitary adenomas via fully endoscopic endonasal surgery over a period of 4 months. The independent variable was the subtype of sellar barrier observed on preoperative MRI (strong, mixed or weak); the dependent variable was the presence of an intraoperative CSF leak. The primary goal was to determine the association between a particular type of sellar barrier and the risk of intraoperative CSF leak. Appropriate statistical methods were then applied for data analysis. RESULTS: Over the study period, 310 patients underwent endoscopic endonasal surgery for pituitary tumor. Preoperative imaging revealed a weak sellar barrier in 73 (23.55%), a mixed sellar barrier in 75 (24.19%), and a strong sellar barrier in 162 (52.26%) patients. The overall rate of intraoperative CSF leak among all patients was 69 (22.26%). A strong sellar-type barrier was associated with significantly reduced rate of intraoperative CSF leak (RR = 0.08; 95% CI 0.03-0.19; p < 0.0001), while a weak sellar barrier associated with higher rates of CSF leak (RR = 8.54; 95% CI 5.4-13.5; p < 0.0001). CONCLUSIONS: The preoperative MRI of pituitary patients can suggest intraoperative CSF leak rates, utilizing the concept of the sellar barrier. Patients with a weak sellar barrier carry a higher risk for an intraoperative CSF leak, whereas a strong sellar barrier on MRI seems to mitigate intraoperative CSF leak. We propose that preoperatively assessment of the sellar barrier can prepare surgeons for intraoperative CSF leak repair.
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Vazamento de Líquido Cefalorraquidiano/diagnóstico por imagem , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Multicêntricos como Assunto , Estudos ProspectivosRESUMO
BACKGROUND: Cavernous sinus (CS) invasion is found in 15-20% of pituitary adenomas; it represents a poor prognosis factor and a surgical challenge even in experienced pituitary centers. We present our experience and technical note description for surgical management of pituitary adenomas with CS invasion in acromegaly by the transsellar lateral approach with an endoscopic endonasal transsphenoidal route. METHOD: prospective case series of patients who underwent endoscopic endonasal surgery for Growing Hormone (GH) producing adenomas with CS invasion treated at the Neurosurgery departments of National Institute of Neurology and Neurosurgery in Mexico City, and of Toluca Medical Center of Social Security Institute of the State of Mexico and Provinces between January 2014 and March 2019. RESULTS: Thirty-two of 94 patients with diagnosis of pituitary adenoma treated at our institutions (34%) had acromegaly; thirteen of patients with acromegaly diagnosis met the inclusion criteria for CS invasion. Postoperative images reported gross total resection in 10 patients (76.9%). Mean follow-up time was 28.3 months. Remission criteria were achieved in nine patients (69.2%), with one of these patients (11.1%) having recurrence during follow up. All patients with no biochemical remission had improvement in GH and IGF profiles. Three patients without remission underwent radiosurgery (14Gy), and one patient had remission after the procedure. CONCLUSIONS: We consider this to be a safe and efficient approach for tumors invading CS, when surgical team have good experience in endoscopy of the skull base and reconstruction techniques, appropriate instruments are available, and tumor has soft consistency.
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OBJECTIVE: The authors conducted a pilot study on hybrid fluorescein-guided surgery for pituitary adenoma resection and herein describe the feasibility and safety of this technique. METHODS: In this pilot study, the authors included all consecutive patients presenting with pituitary adenomas, functioning and nonfunctioning. They performed a hybrid fluorescein-guided surgical technique for tumor resection. An endonasal endoscopic approach was used; after exposure of the rostrum of the sphenoid sinus, they administered a bolus of 8 mg/kg of fluorescein sodium (FNa) intravenously, and during resection, they alternated between endoscopic and microscopic techniques to guide the resection under a YELLOW 560 filter. RESULTS: The study included 15 patients, 7 men (47%) and 8 women (53%). Of the pituitary adenomas, 7 (46%) were nonfunctioning, 6 (40%) were GH secreting, 1 (7%) was prolactin secreting, and 1 (7%) was ACTH secreting. There were no FNa-related complications (anaphylactic reactions); yellowish staining of urine, skin, and mucosa was seen in all patients and resolved in a maximum time of 24 hours. After color spectrophotometric analysis, the authors identified a statistical difference in fluorescence among tumor, gland, and scar tissue (p = 0.01). CONCLUSIONS: This is the first study of its kind to describe the feasibility and safety of using FNa to guide the resection of pituitary adenomas. The authors found this technique to be safe and feasible. It may be used to obtain better surgical results, especially for hormone-producing and recurring tumors, as well as for reducing the learning curve in pituitary adenoma surgery.
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INTRODUCTION: Renin-angiotensin system (RAS) in brain cancer represents a scarcely explored field in neuro-oncology. Recently, some pre- and clinical studies have reported that RAS components play a relevant role in the development and behavior of gliomas. The angiotensinogen (AGT) rs5050 genetic variant has been identified as a crucial regulator of the transcription of AGT mRNA, which makes it a logical and promising target of research. The aim of this study was to determine the relationship between the AGT rs5050 genetic variant in blood with prognosis in astrocytoma. METHODS: A prospective pilot study was performed on forty-eight astrocytoma patients, who received the standard-of-care treatment. Blood samples were taken prior to surgery and DNA was sequenced using Ion Torrent next-generation sequencing and analyzed by Ion Reporter software. Descriptive, bivariate, multivariate, and survival analyses were performed using SPSS v21, STATA 12 and GraphPad Prism 7. RESULTS: Median follow-up was 41 months (range 1-48). Survival analysis showed a significant difference between the rs5050 genotypes (p = .05). We found lower survival rates in individuals with the GG-genotype of rs5050 AGT compared to patients with the TT- and TG-genotype (2 months vs. 11.5 months, respectively [p = .01]). In bivariate and multivariate analyses, GG-genotype was negatively associated with survival. CONCLUSIONS: In patients with astrocytoma, AGT rs5050 GG-genotype was associated with poor prognosis. We propose this germline genetic variant as a complementary biomarker, which can be detected practically and safely in blood samples or saliva.
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Angiotensinogênio/genética , Astrocitoma/diagnóstico , Astrocitoma/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Mutação em Linhagem Germinativa , Adulto , Idoso , Angiotensinogênio/sangue , Astrocitoma/mortalidade , Astrocitoma/terapia , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/terapia , Feminino , Seguimentos , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Prognóstico , Estudos Prospectivos , Análise de Sobrevida , Adulto JovemRESUMO
BACKGROUND: McCune-Albright's syndrome (MAS) is a rare disorder that is characterized by café-au-lait macules, fibrous dysplasia of the skull and endocrinopathies like excessive secretion of growth hormone by a hyper-functional pituitary adenoma (PA). CASE: We describe the case of a 43-year-old male with history of Gigantism in 1990 secondary to a GH-secreting pituitary macroadenoma that was treated via microscopic transsphenoidal surgery at that time. He was reported as asymptomatic for 26 years until he developed headache and right temporal hemianopia with left amaurosis. Also ptosis and proptosis was found caused by a re-growth of the tumor on the follow up MRI. A second surgical procedure was performed via a dorsolateral craniotomy. Gross total resection was also achieved with a Neuropathology report of a pituitary adenoma tissue accompanied by extended dystrophic calcification and bone formation. CONCLUSION: This is a rare case of MAS. Gigantism within the context of a pituitary calcification raises special diagnostic and therapeutic challenges. The cause of the excessive secretion of GH in MAS is not well understood concluding that it seems to be a different etiology of patients with Acromegaly and Gigantism in non-MAS patients.