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BACKGROUND AND OBJECTIVES: Spinal chordomas are primary bone tumors where surgery remains the primary treatment. However, their low incidence, lack of evidence, and late disease presentation make them challenging to manage. Here, we report the postoperative outcomes of a large cohort of patients after surgical resection, investigate predictors for overall survival (OS) and local recurrence-free survival (LRFS) times, and trend functional outcomes over multiple time periods. METHODS: Retrospective review of all patients followed for spinal chordoma at a quaternary spinal oncology center from 2003 to 2023 was included. Data were collected regarding demographics, preoperative and perioperative management, and follow-up since initial definitive surgery. Primary outcomes were OS and LRFS, whereas secondary outcomes were functional deficits. RESULTS: One hundred one patients had an average follow-up of 6.0 ± 4.2 years. At the time of census, 25/101 (24.8%) had experienced a recurrence and 10/101 (9.9%) had died. After surgery, patients experienced a significant decrease in pain over time, but rates of sensory deficits, weakness, and bowel/bladder dysfunction remained static. Tumors ≥100 cm3 (hazard ratio (HR) = 5.89, 95% CI 1.72-20.18, P = .005) and mobile spine chordomas (HR = 7.73, 95% CI 2.09-28.59, P = .002) are related to worse LRFS, whereas having neoadjuvant radiotherapy is associated with improved LRFS (HR = 0.09, 95% CI 0.01-0.88, P = .038). On the other hand, being age ≥65 years was associated with decreased OS (HR = 16.70, 95% CI 1.54-181.28, P = .021). CONCLUSION: Surgeons must often weigh the pros and cons of en bloc resection and sacrificing important but affected native tissues. Our findings can provide a benchmark for counseling patients with spinal chordoma. Tumors ≥100 cm3 appear to have a 5.89-times higher risk of recurrence, mobile spine chordomas have a 7.73 times higher risk, and neoadjuvant radiotherapy confers an 11.1 times lower risk for local recurrence. Patients age ≥65 years at surgery have a 16.70 times higher risk of mortality than those <65 years.
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The craniovertebral junction (CVJ) involves the atlas, axis, and occiput along with the atlanto-occipital and atlantoaxial joints. The anatomy and neural and vascular anatomy of the junction render the CVJ unique. Specialists treating disorders that affect the CVJ must appreciate its intricate anatomy and should be well versed in its biomechanics. This first article in a three-article series provides an overview of the functional anatomy and biomechanics of the CVJ.
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Articulación Atlantoaxoidea , Articulación Atlantooccipital , Humanos , Fenómenos Biomecánicos , Articulación Atlantooccipital/anatomía & histología , Articulación Atlantoaxoidea/anatomía & histologíaRESUMEN
In this third article in a 3-article series on the craniocervical junction, we define the terms "basilar impression," "cranial settling," "basilar invagination," and "platybasia," noting that these terms are often used interchangeably but represent distinct entities. We then provide examples that represent these pathologies and treatment paradigms. Finally, we discuss the challenges and future direction in the craniovertebral junction surgery space.
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Platibasia , Humanos , Platibasia/cirugía , Cráneo/cirugía , Descompresión QuirúrgicaRESUMEN
The craniovertebral junction (CVJ), or the "first junction," can be affected by a variety of pathological states. Some of these conditions could represent a gray area in that they can be treated by general neurosurgeons or such specialists as skull base or spinal surgeons. However, some conditions are best managed with a multidisciplinary approach. The importance of in-depth knowledge of the anatomy and biomechanics of this junction cannot be overemphasized. Identifying what represents clinical stability or instability is key to successful diagnosis and, hence, treatment. In this report, the second in a 3-article series, we describe our approach to managing CVJ pathologies in a case-based fashion to illustrate key concepts.
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Base del Cráneo , Columna Vertebral , Humanos , Base del Cráneo/cirugía , Fenómenos BiomecánicosRESUMEN
Von Hippel-Lindau (VHL) disease is a tumor predisposition syndrome caused by mutations in the VHL gene that presents with visceral neoplasms and growths, including clear cell renal cell carcinoma, and central nervous system manifestations, such as hemangioblastomas of the brain and spine. The pathophysiology involves dysregulation of oxygen sensing caused by the inability to degrade HIFα, leading to the overactivation of hypoxic pathways. Hemangioblastomas are the most common tumors in patients with VHL and cause significant morbidity. Until recently, there were no systemic therapies available for patients that could effectively reduce the size of these lesions. Belzutifan, the first approved HIF-2α inhibitor, has demonstrated benefit in VHL-associated tumors, with a 30% response rate in hemangioblastomas and ~30%-50% reduction in their sizes over the course of treatment. Anemia is the most prominent adverse effect, affecting 76%-90% of participants and sometimes requiring dose reduction or transfusion. Other significant adverse events include hypoxia and fatigue. Overall, belzutifan is well tolerated; however, long-term data on dosing regimens, safety, and fertility are not yet available. Belzutifan holds promise for the treatment of neurological manifestations of VHL and its utility may influence the clinical management paradigms for this patient population.
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Hemangioblastoma , Neoplasias Renales , Enfermedad de von Hippel-Lindau , Humanos , Enfermedad de von Hippel-Lindau/genética , Hemangioblastoma/tratamiento farmacológico , Hemangioblastoma/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genéticaRESUMEN
STUDY DESIGN: Retrospective cohort study. OBJECTIVE: The aim was to investigate the accuracy of pedicle screw placement by freehand technique and to compare revision surgery rates among three different imaging verification pathways. SUMMARY OF BACKGROUND DATA: Studies comparing different imaging modalities in freehand screw placement surgery are limited. MATERIALS AND METHODS: A single-institution retrospective chart review identified adult patients who underwent freehand pedicle screw placement in the thoracic, lumbar or sacral levels. Patients were stratified into three cohorts based on the intraoperative imaging modality used to assess the accuracy of screw position: intraoperative X-rays (cohort 1); intraoperative O-arm (cohort 2); or intraoperative computed tomography (CT)-scan (cohort 3). Postoperative CT scans were performed on all patients in cohorts 1 and 2. Postoperative CT scan was not required in cohort 3. Screw accuracy was assessed using the Gertzbein-Robbins grading system. RESULTS: A total of 9179 pedicle screws were placed in the thoracic or lumbosacral spine in 1311 patients. 210 (2.3%) screws were identified as Gertzbein-Robbins grades C-E on intraoperative/postoperative CT scan, 137 thoracic screws, and 73 lumbar screws ( P <0.001). Four hundred and nine patients underwent placement of 2754 screws followed by intraoperative X-ray (cohort 1); 793 patients underwent placement of 5587 screws followed by intraoperative O-arm (cohort 2); and 109 patients underwent placement of 838 screws followed by intraoperative CT scan (cohort 3). Postoperative CT scans identified 65 (2.4%) and 127 (2.3%) malpositioned screws in cohorts 1 and 2, respectively. Eleven screws (0.12%) were significantly malpositioned and required a second operation for screw revision. Nine patients (0.69%) required revision operations: eight of these patients were from cohort 1 and one patient was from cohort 2. CONCLUSION: When compared to intraoperative X-ray, intraoperative O-arm verification decreased the revision surgery rate for malpositioned screws from 0.37% to 0.02%. In addition, our analysis suggests that the use of intraoperative O-arm can obviate the need for postoperative CT scans.
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Tornillos Pediculares , Fusión Vertebral , Cirugía Asistida por Computador , Adulto , Humanos , Estudios Retrospectivos , Imagenología Tridimensional/métodos , Cirugía Asistida por Computador/métodos , Tomografía Computarizada por Rayos X/métodos , Fusión Vertebral/métodosRESUMEN
OBJECTIVE: Metastatic spinal tumors commonly arise from primary breast cancer. We assessed outcomes and identified associated variables for patients who underwent surgical management for spinal metastases of breast cancer. METHODS: We retrospectively reviewed patients surgically treated for spinal metastases of breast cancer. Neurologic and functional outcomes were analyzed via Frankel scale and Karnofksy Performance Status (KPS) scores, respectively. Variables associated with Frankel and KPS scores after surgery were identified. Multivariable analysis was used to assess predictors for postoperative survival. RESULTS: Forty-nine patients were identified. There was no significant difference in Frankel scores postoperatively and at last follow-up. KPS scores (P = 0.002) significantly improved at last follow-up. Preoperative non-ambulation and postprocedural complications were associated with non-ambulation postoperatively. Postprocedural complications and disease-free interval (DFI) < 24 and < 60 months were associated with functional impairment at last follow-up. Current smoking status at the time of surgery (P = 0.021) and triple negative (negative immunohistochemistry for estrogen receptor, progesterone receptor, and HER2) breast cancer (P = 0.038) were significantly associated with shortened postoperative survival. CONCLUSION: When indicated, surgery for spinal metastases of breast cancer leads to preservation of neurologic status and long-term functional improvement. Preoperative ambulatory status and postprocedural complications were associated with ambulatory status after surgery, while postprocedural complications and shortened DFI were associated with functional status after surgery.Current smoking status at the time of surgery and triple negative breast cancer are negative predictors for postoperative survival after metastatic breast cancer to the spine.
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Neoplasias de la Mama , Neoplasias de la Columna Vertebral , Neoplasias de la Mama/patología , Femenino , Humanos , Periodo Posoperatorio , Estudios Retrospectivos , Neoplasias de la Columna Vertebral/secundario , Columna Vertebral/cirugía , Resultado del TratamientoRESUMEN
PURPOSE: Surgical resection is considered standard of care for primary intramedullary astrocytomas, but the infiltrative nature of these lesions often precludes complete resection without causing new post-operative neurologic deficits. Radiotherapy and chemotherapy serve as potential adjuvants, but high-quality data evaluating their efficacy are limited. Here we analyze the experience at a single comprehensive cancer center to identify independent predictors of postoperative overall and progression-free survival. METHODS: Data was collected on patient demographics, tumor characteristics, pre-operative presentation, resection extent, long-term survival, and tumor progression/recurrence. Kaplan-Meier curves modeled overall and progression-free survival. Univariable and multivariable accelerated failure time regressions were used to compute time ratios (TR) to determine predictors of survival. RESULTS: 94 patients were included, of which 58 (62%) were alive at last follow-up. On multivariable analysis, older age (TR = 0.98; p = 0.03), higher tumor grade (TR = 0.12; p < 0.01), preoperative back pain (TR = 0.45; p < 0.01), biopsy [vs GTR] (TR = 0.18; p = 0.02), and chemotherapy (TR = 0.34; p = 0.02) were significantly associated with poorer survival. Higher tumor grade (TR = 0.34; p = 0.02) and preoperative bowel dysfunction (TR = 0.31; p = 0.02) were significant predictors of shorter time to detection of tumor growth. CONCLUSION: Tumor grade and chemotherapy were associated with poorer survival and progression-free survival. Chemotherapy regimens were highly heterogeneous, and randomized trials are needed to determine if any optimal regimens exist. Additionally, GTR was associated with improved survival, and patients should be counseled about the benefits and risks of resection extent.
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Astrocitoma , Neoplasias de la Médula Espinal , Astrocitoma/patología , Humanos , Procedimientos Neuroquirúrgicos , Supervivencia sin Progresión , Estudios Retrospectivos , Neoplasias de la Médula Espinal/patología , Resultado del TratamientoRESUMEN
BACKGROUND CONTEXT: Intramedullary spinal cord tumors (IMSCTs) are rare tumors associated with significant morbidity and mortality. Surgical resection is often indicated for symptomatic lesions but may result in new neurological deficits and decrease quality of life. Identifying predictors of these adverse outcomes may help target interventions designed to reduce their occurrence. Nonetheless, most prior studies have employed population-level datasets with limited granularity. PURPOSE: To determine independent predictors of nonroutine discharge, prolonged length of stay (LOS), and 30 day readmission and reoperation, and to deploy these results as a web-based calculator. STUDY DESIGN: Retrospective cohort study PATIENT SAMPLE: A total of 235 patients who underwent resection of IMSCTs at a single comprehensive cancer center. OUTCOME MEASURES: Nonroutine discharge, prolonged LOS, 30 day readmission, and 30 day reoperation METHODS: Patients who underwent surgery from June 2002 to May 2020 at a single tertiary center were included. Data was collected on patient demographics, clinical presentation, tumor histology, surgical procedures, and 30 day readmission and reoperation. Functional status was assessed using the Modified McCormick Scale (MMS) and queried preoperative neurological symptoms included weakness, urinary and bowel dysfunction, numbness, and back and radicular pain. Variables significant on univariable analysis at the α≤0.15 level were entered into a stepwise multivariable logistic regression model. RESULTS: Of 235 included cases, 131 (56%) experienced a nonhome discharge and 68 (29%) experienced a prolonged LOS. Of 178 patients with ≥ 30 days of follow-up, 17 (9.6%) were readmitted within 30 days and 13 (7.4%) underwent reoperation. Wound dehiscence (29%) was the most common reason for readmission. Nonhome discharge was independently predicted by older age (OR=1.03/year; p<.01), thoracic location of the tumor (OR=2.36; p=.01), presenting with bowel dysfunction (OR=4.09; p=.03), and longer incision length (OR=1.44 per level; p=.03). Independent predictors of prolonged LOS included presenting with urinary incontinence (OR=2.65; p=.05) or a higher preoperative white blood cell count (OR=1.08 per 103/µL); p=.01), while GTR predicted shorter LOS (OR=0.40; p=.02). Independent predictive factors for 30 day unplanned readmission included experiencing ≥1 complications during the first hospitalization (OR=6.13; p<.01) and having a poor (A-C) versus good (D-E) baseline neurological status on the ASIA impairment scale (OR=0.23; p=.03). The only independent predictor of unplanned 30 day reoperation was experiencing ≥1 inpatient complications during the index hospitalization (OR=6.92; p<.01). Receiver operating curves for the constructed models produced C-statistics of 0.67-0.77 and the models were deployed as freely available web-based calculators (https://jhuspine5.shinyapps.io/Intramedullary30day). CONCLUSIONS: We found that neurological presentation, patient demographics, and incision length were important predictors of adverse perioperative outcomes in patients with IMSCTs. The calculators can be used by clinicians for risk stratification, preoperative counseling, and targeted interventions.
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Alta del Paciente , Neoplasias de la Médula Espinal , Humanos , Tiempo de Internación , Readmisión del Paciente , Complicaciones Posoperatorias/diagnóstico , Calidad de Vida , Reoperación , Estudios Retrospectivos , Factores de Riesgo , Neoplasias de la Médula Espinal/patología , Neoplasias de la Médula Espinal/cirugíaRESUMEN
OBJECTIVE: Treatment of primary spinal infection includes medical management with or without surgical intervention. The objective of this study was to identify risk factors for the eventual need for surgery in patients with primary spinal infection on initial presentation. METHODS: From January 2010 to July 2019, 275 patients presented with primary spinal infection. Demographic, infectious, imaging, laboratory, treatment, and outcome data were retrospectively reviewed and collected. Thirty-three patients were excluded due to insufficient follow-up (≤ 90 days) or death prior to surgery. RESULTS: The mean age of the 242 patients was 58.8 ± 13.6 years. The majority of the patients were male (n = 130, 53.7%), White (n = 150, 62.0%), and never smokers (n = 132, 54.5%). Fifty-four patients (22.3%) were intravenous drug users. One hundred fifty-four patients (63.6%) ultimately required surgery while 88 (36.4%) never needed surgery during the duration of follow-up. There was no significant difference in age, gender, race, BMI, or comorbidities between the surgery and no-surgery groups. On univariate analysis, the presence of an epidural abscess (55.7% in the no-surgery group vs 82.5% in the surgery group, p < 0.0001), the median spinal levels involved (2 [interquartile range (IQR) 2-3] in the no-surgery group vs 3 [IQR 2-5] in the surgery group, p < 0.0001), and active bacteremia (20.5% in the no-surgery vs 35.1% in the surgery group, p = 0.02) were significantly different. The cultured organism and initial laboratory values (erythrocyte sedimentation rate, C-reactive protein, white blood cell count, creatinine, and albumin) were not significantly different between the groups. On multivariable analysis, the final model included epidural abscess, cervical or thoracic spine involvement, and number of involved levels. After adjusting for other variables, epidural abscess (odds ratio [OR] 3.04, 95% confidence interval [CI] 1.64-5.63), cervical or thoracic spine involvement (OR 2.03, 95% CI 1.15-3.61), and increasing number of involved levels (OR 1.16, 95% CI 1.01-1.35) were associated with greater odds of surgery. Fifty-two surgical patients (33.8%) underwent decompression alone while 102 (66.2%) underwent decompression with fusion. Of those who underwent decompression alone, 2 (3.8%) of 52 required subsequent fusion due to kyphosis. No patient required hardware removal due to persistent infection. CONCLUSIONS: At time of initial presentation of primary spinal infection, the presence of epidural abscess, cervical or thoracic spine involvement, as well as an increasing number of involved spinal levels were potential risk factors for the eventual need for surgery in this study. Additional studies are needed to assess for risk factors for surgery and antibiotic treatment failure.
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OBJECTIVE: Intramedullary spinal cord tumors (IMSCTs) are rare neoplasms whose treatment is often technically challenging. Given the low volume seen at most centers, perioperative outcomes have been reported infrequently. Here, the authors present the largest single-institution series of IMSCTs, focusing on the clinical presentation, histological makeup, perioperative outcomes, and long-term survival of surgically treated patients. METHODS: A cohort of patients operated on for primary IMSCTs at a comprehensive cancer center between June 2002 and May 2020 was retrospectively identified. Data on patient demographics, tumor histology, neuraxial location, baseline neurological status, functional deficits, and operative characteristics were collected. Perioperative outcomes of interest included length of stay, postoperative complications, readmission, reoperation, and discharge disposition. Data were compared across tumor histologies using the Kruskal-Wallis H test, chi-square test, and Fisher exact test. Pairwise comparisons were conducted using Tukey's honest significant difference test, chi-square test, and Fisher exact test. Long-term survival was assessed across tumor categories and histological subtype using the log-rank test. RESULTS: Three hundred two patients were included in the study (mean age 34.9 ± 19 years, 77% white, 57% male). The most common tumors were ependymomas (47%), astrocytomas (31%), and hemangioblastomas (11%). Ependymomas and hemangioblastomas disproportionately localized to the cervical cord (54% and 59%, respectively), whereas astrocytomas were distributed almost equally between the cervical cord (36%) and thoracic cord (38%). Clinical presentation, extent of functional dependence, and postoperative 30-day outcomes were largely independent of underlying tumor pathology, although tumors of the thoracic cord had worse American Spinal Injury Association (ASIA) grades than cervical tumors. Rates of gross-total resection were lower for astrocytomas than for ependymomas (54% vs 84%, p < 0.01) and hemangioblastomas (54% vs 100%, p < 0.01). Additionally, 30-day readmission rates were significantly higher for astrocytomas than ependymomas (14% vs 6%, p = 0.02). Overall survival was significantly affected by the underlying pathology, with astrocytomas having poorer associated prognoses (40% at 15 years) than ependymomas (81%) and hemangioblastomas (66%; p < 0.01) and patients with high-grade ependymomas and astrocytomas having poorer long-term survival than those with low-grade lesions (p < 0.01). CONCLUSIONS: The neuraxial location of IMSCTs, extent of resection, and postoperative survival differed significantly across tumor pathologies. However, perioperative outcomes did not vary significantly across tumor cohorts, suggesting that operative details, rather than pathology, may have a stronger influence on the short-term clinical course, whereas pathology appears to have a stronger impact on long-term survival.
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Spinal oncology has had many advancements often necessitating serial imaging for post-surgical treatment planning and close follow up. Traditional spinal instrumentation introduces artifact into MRI and CT imaging, which can reduce the efficacy of follow up imaging and treatment. Newly created carbon-fiber instrumentation can offer many advantages compared to traditional instrumentation while typically maintaining biomechanical stability. The utility of this new instrumentation continues to evolve as more surgeons utilize these materials, which can improve patient outcomes. We illustrate the utility of this new hardware technology through various patient examples.
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BACKGROUND: Chordomas are the most common primary spinal column malignancy in the United States. The aim of this study was to determine whether chordomas may be detected by evaluating mutations in circulating tumor DNA (ctDNA). METHODS: Thirty-two patients with a biopsy-confirmed diagnosis of chordoma had blood drawn pre-operatively and/or at follow-up appointments. Mutations in the primary tumor were identified by whole exome sequencing and liquid biopsy by ddPCR and/or RACE-Seq was used to detect one or more of these mutations in plasma ctDNA at concurrent or later time points. RESULTS: At the time of initial blood draw, 87.1% of patients were ctDNA positive (P <.001). Follow-up blood draws in twenty of the patients suggest that ctDNA levels may reflect the clinical status of the disease. Patients with positive ctDNA levels were more likely to have greater mutant allele frequencies in their primary tumors (P = .004) and undergo radiotherapy (P = .02), and the presence of ctDNA may correlate with response to systemic chemotherapy and/or disease recurrence. CONCLUSIONS: Detection of ctDNA mutations may allow for the detection and monitoring of disease progression for chordomas.
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STUDY DESIGN: This was a cross-sectional study. OBJECTIVE: The objective of this study is to report the impact of COVID-19 on spine surgery fellow education and readiness for practice. SUMMARY OF BACKGROUND DATA: COVID-19 has emerged as one of the most devastating global health crises of our time. To minimize transmission risk and to ensure availability of health resources, many hospitals have cancelled elective surgeries. There may be unintended consequences of this decision on the education and preparedness of current surgical trainees. MATERIALS AND METHODS: A multidimensional survey was created and distributed to all current AO Spine fellows and fellowship directors across the United States and Canada. RESULTS: Forty-five spine surgery fellows and 25 fellowship directors completed the survey. 62.2% of fellows reported >50% decrease in overall case volume since cancellation of elective surgeries. Mean hours worked per week decreased by 56.2%. Fellows reported completing a mean of 188.4±64.8 cases before the COVID-19 crisis and 84.1% expect at least an 11%-25% reduction in case volume compared with previous spine fellows. In all, 95.5% of fellows did not expect COVID-19 to impact their ability to complete fellowship. Only 2 directors were concerned about their fellows successfully completing fellowship; however, 32% of directors reported hearing concerns regarding preparedness from their fellows and 25% of fellows were concerned about job opportunities. CONCLUSIONS: COVID-19 has universally impacted work hours and case volume for spine surgery fellows set to complete fellowship in the middle of 2020. Nevertheless, spine surgery fellows generally feel ready to enter practice and are supported by the confidence of their fellowship directors. The survey highlights a number of opportunities for improvement and innovation in the future training of spine surgeons. LEVEL OF EVIDENCE: Level III.
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COVID-19/epidemiología , Competencia Clínica , Procedimientos Quirúrgicos Electivos/estadística & datos numéricos , Becas , Ortopedia/educación , Pandemias , Canadá/epidemiología , Estudios Transversales , Empleo , Encuestas Epidemiológicas , Humanos , Admisión y Programación de Personal , SARS-CoV-2 , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVE: Myelopathy selectively involving the lower extremities can occur secondary to spondylotic changes, tumor, vascular malformations, or thoracolumbar cord ischemia. Vascular causes of myelopathy are rarely described. An uncommon etiology within this category is diaphragmatic crus syndrome, in which compression of an intersegmental artery supplying the cord leads to myelopathy. The authors present the operative technique for treating this syndrome, describing their experience with 3 patients treated for acute-onset lower-extremity myelopathy secondary to hypoperfusion of the anterior spinal artery. METHODS: All patients had compression of a lumbar intersegmental artery supplying the cord; the compression was caused by the diaphragmatic crus. Compression of the intersegmental artery was probably producing the patients' symptoms by decreasing blood flow through the artery of Adamkiewicz, causing lumbosacral ischemia. RESULTS: All patients underwent surgery to transect the offending diaphragmatic crus. Each patient experienced substantial symptom improvement, and 2 patients made a full neurological recovery before discharge. CONCLUSIONS: Diaphragmatic crus syndrome is a rare or under-recognized cause of ischemic myelopathy. Patients present with episodic acute-on-chronic lower-extremity paraparesis, gait instability, and numbness. Angiography confirms compression of an intersegmental artery that gives rise to a dominant radiculomedullary artery. Transecting the offending diaphragmatic crus can produce complete resolution of neurological symptoms.
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Spine surgery has evolved from the advent of imaging and navigation guidance, particularly with the rise of robotic surgical assistance. Navigation guidance has demonstrated potential for increased accuracy of transpedicular screw placement and resecting primary and metastatic spinal tumors. Robotic surgery is widely accepted in other surgical fields because laparoscopic techniques applied to robots can increase operator dexterity and improve visualization. Robotic assistance with spinal tumors has enjoyed rising interest owing to the potential for safe and minimally traumatic resection. We discuss available robots used for navigation-guided transpedicular screw placement and state-of-the-art robotic techniques for spinal or paraspinal tumor resection.
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Procedimientos Neuroquirúrgicos/métodos , Procedimientos Ortopédicos/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Columna Vertebral/cirugía , Humanos , Cirugía Asistida por ComputadorRESUMEN
Intramedullary spinal cord tumors (IMSCTs) are rare neoplasms that have limited treatment options and are associated with high rates of morbidity and mortality. To better understand the genetic basis of these tumors we performed whole exome sequencing on 45 tumors and matched germline DNA, including twenty-nine spinal cord ependymomas and sixteen astrocytomas. Though recurrent somatic mutations in IMSCTs were rare, we identified NF2 mutations in 15.7% of tumors (ependymoma, N = 7; astrocytoma, N = 1), RP1 mutations in 5.9% of tumors (ependymoma, N = 3), and ESX1 mutations in 5.9% of tumors (ependymoma, N = 3). We further identified copy number amplifications in CTU1 in 25% of myxopapillary ependymomas. Given the paucity of somatic driver mutations, we further performed whole-genome sequencing of 12 tumors (ependymoma, N = 9; astrocytoma, N = 3). Overall, we observed that IMSCTs with intracranial histologic counterparts (e.g. glioblastoma) did not harbor the canonical mutations associated with their intracranial counterparts. Our findings suggest that the origin of IMSCTs may be distinct from tumors arising within other compartments of the central nervous system and provides the framework to begin more biologically based therapeutic strategies.
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Glioma/genética , Neoplasias de la Médula Espinal/genética , Adolescente , Adulto , Anciano , Astrocitoma/patología , Ependimoma/patología , Femenino , Genómica , Glioblastoma/patología , Glioma/patología , Proteínas de Homeodominio/genética , Humanos , Masculino , Proteínas Asociadas a Microtúbulos/genética , Persona de Mediana Edad , Neurofibromina 2/genética , Médula Espinal/patología , Neoplasias de la Médula Espinal/patología , Secuenciación del Exoma/métodosRESUMEN
BACKGROUND: Spinal chordomas, a subtype of primary spinal column malignancies (PSCM), are rare tumors with poor prognosis, and we have limited understanding of the molecular drivers of neoplasia. METHODS: Study design was a retrospective review of prospectively collected data with cross-sectional survival. Archived paraffin embedded pathologic specimens were collected for 133 patients from 6 centers within Europe and North America between 1987 and 2012. Tumor DNA was extracted and the human telomerase reverse transcriptase (hTERT) promoter was sequenced. The hTERT mutational status was correlated with overall survival (OS) and time to first local recurrence. RESULTS: Ninety-two chordomas, 26 chondrosarcomas, 7 osteosarcomas, 3 Ewing's sarcomas, and 5 other malignant spinal tumors were analyzed. Median OS following surgery was 5.8 years (95% CI: 4.6 to 6.9) and median time to first local recurrence was 3.9 years (95% CI: 2.5 to 6.7). Eight chordomas, 2 chondrosarcomas, 1 Ewing's sarcoma, and 1 other malignant spinal tumor harbored either a C228T or C250T mutation in the hTERT promoter. In the overall cohort, all patients with hTERT mutation were alive at 10 years postoperative with a median OS of 5.1 years (95% CI: 4.5 to 6.6) (P = 0.03). hTERT promoter mutation was observed in 8.7% of spinal chordomas, and 100% of chordoma patients harboring the mutation were alive at 10 years postoperative compared with 67% patients without the mutation (P = 0.05). CONCLUSIONS: We report for the first time that hTERT promoter mutations C228T and C250T are present in approximately 8.7% of spinal chordomas. The presence of hTERT mutations conferred a survival benefit and could potentially be a valuable positive prognostic molecular marker in spinal chordomas.