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1.
Medicine (Baltimore) ; 99(22): e20397, 2020 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-32481429

RESUMO

RATIONALE: Diffuse idiopathic skeletal hyperostosis (DISH) is characterized by ossification along the anterolateral aspect of at least 4 contiguous vertebral bodies. A fracture involving the fused vertebra in patients with DISH often leads to severe instability and spinal cord injury. Spinal metastasis (Mets) and DISH can coexist in elderly patients and increase their risk of pathologic vertebral fractures. However, there are few reports on concomitant spinal Mets and DISH. PATIENT CONCERNS: A 78-year-old man who complained of gradual onset of paraparesis, sensory loss below the umbilicus, and incontinence (case 1) and a 63-year-old woman who complained of severe back pain and urinary incontinence (case 2). DIAGNOSIS: Two patients were diagnosed with spinal Mets and DISH. INTERVENTIONS: Decompression surgery was performed at the metastatic sites in case 1 whereas instrumentation surgery was performed in case 2 despite the fracture having a benign appearance with no associated neurologic symptoms. OUTCOMES: A vertebral fracture developed at the metastatic vertebra after decompression surgery in case 1. Severe instability of the surgical site in this case resulted in persistent paralysis even after subsequent revision surgery with instrumentation. In contrast, the clinical course was benign without any neurologic dysfunction at the 2-year follow-up in case 2. LESSONS: Instrumentation surgery should be performed in patients with DISH who develop spinal Mets even if there is no apparent instability.


Assuntos
Hiperostose Esquelética Difusa Idiopática/complicações , Neoplasias da Coluna Vertebral/secundário , Idoso , Blefaroptose , Neoplasias da Mama/patologia , Anormalidades Congênitas , Descompressão Cirúrgica/métodos , Feminino , Fixação Interna de Fraturas/métodos , Humanos , Hiperostose Esquelética Difusa Idiopática/cirurgia , Região Lombossacral/anormalidades , Masculino , Pessoa de Meia-Idade , Neoplasias da Próstata/patologia , Fraturas da Coluna Vertebral/etiologia , Fraturas da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/lesões , Vértebras Torácicas/cirurgia
2.
Medicine (Baltimore) ; 99(25): e20430, 2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32569166

RESUMO

To compare the efficacy and safety of kyphoplasty (KP) in the treatment of occult metastatic vertebral tumors (OMVT) and non-occult metastatic vertebral tumors (MVT).From January 2013 to December 2017, 65 cases of occult metastatic vertebral tumors and 82 cases of metastatic vertebral tumors were selected and divided into 2 groups. After KP, they were followed up by a year of outpatient visits and telephone calls. The visual analogue scale (VAS) and Oswestry disability index (ODI) scores, the amount of bone cement injected, the change of vertebral height and the incidence of complications were recorded, compared and analyzed by SPSS software. t test was used to compare the differences between the same group of patients at different times and between the 2 groups of patients.In the OMVT group, the operation time was 24.52 ±â€Š4.24 minutes, the fluoroscopy time was 10.18 ±â€Š1.53 minutes and the volume of bone cement was 3.62 ±â€Š0.93 ml. The VAS score decreased from 7.26 ±â€Š01.08 preoperatively to 2.77 ±â€Š0.93 postoperatively (P < .01). The ODI score decreased from 64.89 ±â€Š9.05 preoperatively to 25.82 ±â€Š4.63 postoperatively (P < .01). In the MVT group, the operation time was 26.63 ±â€Š4.61 minutes, the fluoroscopy time was 11.04 ±â€Š2.15 minutes and the volume of bone cement was 4.09 ±â€Š1.10 ml. The VAS score decreased from 7.73 ±â€Š0.94 preoperatively to 3.22 ±â€Š0.80 postoperatively (P < .01). The ODI score decreased from 69.20 ±â€Š7.14 preoperatively to 28.02 ±â€Š4.40 postoperatively (P < .01). The vertebral height of MVT patients was significantly improved after operation (P < .01), but there was no difference in OMVT patients (P > .05).Occult metastatic vertebral tumors can be detected by Magnetic Resonance Imaging (MRI), and KP may be more effective and safer in the treatment of OMVT.


Assuntos
Doenças Assintomáticas/terapia , Cifoplastia/estatística & dados numéricos , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/secundário
4.
J Neurooncol ; 148(2): 211-219, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32372178

RESUMO

The challenges of neurosurgical patient management and surgical decision-making during the 2019-2020 COVID-19 worldwide pandemic are immense and never-before-seen in our generation of neurosurgeons. In this case-based formatted report, we present the Mount Sinai Hospital (New York, NY) Department of Neurosurgery institutional experience in the epicenter of the pandemic and the guiding principles for our current management of intracranial, skull base, and spine tumors. The detailed explanations of our surgical reasoning for each tumor case is tailored to assist neurosurgeons across the United States as they face these complex operative decisions put forth by the realities of the pandemic.


Assuntos
Betacoronavirus/isolamento & purificação , Neoplasias Encefálicas/cirurgia , Infecções por Coronavirus/complicações , Neurocirurgia/normas , Procedimentos Neurocirúrgicos/métodos , Pneumonia Viral/complicações , Neoplasias da Coluna Vertebral/cirurgia , Triagem/normas , Neoplasias Encefálicas/virologia , Infecções por Coronavirus/virologia , Gerenciamento Clínico , Humanos , Pandemias , Pneumonia Viral/virologia , Neoplasias da Coluna Vertebral/virologia
5.
Rev Med Liege ; 75(4): 201-202, 2020 04.
Artigo em Francês | MEDLINE | ID: mdl-32267105

RESUMO

We presented a case of a 73-year-old woman presenting to the emergency department with a spinal cord compression secondary to a T2 mass lesion and needing emergency surgery. The lesion was consistent with a papillary thyroid carcinoma. The patient had a previous history of thyroidectomy in a setting of a multinodular goiter 6 years before. A rereading of the previous anatomopathological thyroid tissue confirmed the presence of a papillary thyroid carcinoma that was initially misdiagnosed.


Assuntos
Compressão da Medula Espinal , Neoplasias da Coluna Vertebral , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Idoso , Feminino , Humanos , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/secundário , Câncer Papilífero da Tireoide/secundário , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia
6.
Medicine (Baltimore) ; 99(16): e19838, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32312006

RESUMO

Renal cell carcinoma (RCC) has been traditionally thought to be radioresistant. This retrospective cohort study aims to assess the outcomes of patients with spinal metastases from RCC treated with conventionally-fractionated external beam radiation therapy (cEBRT) in our institution.Patients diagnosed with histologically or radiologically-proven RCC who received palliative cEBRT to spinal metastases, using 3-dimensional conformal technique between 2009 and 2018 were reviewed. Local progression-free survival (PFS), overall survival (OS) and common terminology criteria for adverse events version 4.0-graded toxicity were assessed. Univariable and multivariable Cox proportional hazards regression analyses were performed to evaluate for predictors associated with survivals.Thirty-five eligible patients with forty spinal segments were identified, with a median follow-up of 7 months (range, 0-47). The median equivalent dose in 2 Gy fractions (EQD2) was 32.5 Gy 10 (range, 12-39). Thirty-seven percent of patients underwent surgical intervention. At the time of last follow-up, all but 1 patient had died. Seven patients developed local progression, with the median time to local progression of 10.2 months. The median local PFS and OS were 3.3 and 4.8 months. There was no grade 3 or higher toxicity. A higher radiation dose (equivalent dose to 2 Gy fraction <32.5 Gy 10 vs ≥32.5Gy 10) (hazard ratio [HR], 0.47; 95% confidence interval [CI], 0.17-3.18; P-value (P) = .68) and spinal surgery (HR, 2.35; 95% CI, 0.53-10.29; P = .26) were not significantly associated with local PFS on univariable analysis. Multivariable analysis showed that higher Tokuhashi score (HR, 0.41; 95% CI, 0.19-0.88; P = .02), lower number of spinal segments irradiated (HR, 1.18; 95% CI, 1.01-1.37; P = .04) and use of targeted therapy (HR, 0.41; 95% CI, 0.18-0.96; P = .04) were independent predictors for improved OS.For an unselected group of patients with RCC, there is no significant association between higher radiation dose and improved local control following cEBRT. This may be due to their short survivals. With the use of more effective systemic therapy, including targeted therapy and immunotherapy, survival will likely be prolonged. A tailored-approach is needed to identify patients with good prognosis who may still benefit from aggressive local treatments.


Assuntos
Carcinoma de Células Renais/complicações , Radiocirurgia/métodos , Neoplasias da Coluna Vertebral/radioterapia , Neoplasias da Coluna Vertebral/secundário , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imunoterapia/métodos , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Terapia de Alvo Molecular/métodos , Intervalo Livre de Progressão , Radiocirurgia/efeitos adversos , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/cirurgia , Coluna Vertebral/patologia , Coluna Vertebral/efeitos da radiação , Resultado do Tratamento
7.
Anticancer Res ; 40(3): 1475-1479, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32132046

RESUMO

BACKGROUND/AIM: An increasing number of patients undergo surgical treatment for metastatic spinal cord compression (MSCC). However, the possible role of sex as an independent predictor of long-term survival has not been studied. This study aimed to examine whether sex is associated with long-term survival after surgical treatment in patients with MSCC. PATIENTS AND METHODS: A total of 110 patients were operated on for MSCC from 2005 through 2006. The relation between sex and overall survival was investigated. The follow-up period was 10 years. RESULTS: Survival time was significantly longer for women compared to men (mean±SD: 29±5.2 vs. 14±3.6 month (p=0.01). With adjusted analysis, this difference remained statistically significant. After adjusting for specific primary tumor type and time since surgery, the hazard-ratio of 10-year survival for men compared to women was 1.47 (95% confidence intervaI=1.01-2.18, p=0.048). CONCLUSION: These findings indicate that sex is associated with long-term survival in patients treated for MSCC.


Assuntos
Compressão da Medula Espinal/cirurgia , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/cirurgia , Sobreviventes de Câncer , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Fatores Sexuais , Compressão da Medula Espinal/patologia
8.
Medicine (Baltimore) ; 99(10): e19448, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32150099

RESUMO

To investigate the accuracy of computed tomography (CT) in evaluating spinal epidural adipose tissue compared to magnetic resonance imaging (MRI).CT scan images and matched magnetic resonance images of total 368 patients between July 2014 and July 2016 were evaluated. Hounsfield units (HU) of epidural fat (EF), dural sac (DuS), ligamentum flavum, bone of facet joints, and paraspinal muscles were measured for comparison. Anteroposterior diameter of the EF, anteroposterior diameter of the DuS, transverse diameter of the DuS, cross-sectional area of the EF, and cross-sectional area of the DuS were measured at each disc level from L1-2 to L5-S1.Fat tissue showed exclusive negative HU significantly different from all other periphery tissues. Pearson correlation coefficient analyses showed significant positive correlations between CT and MRI measurements; Bland-Altman plots also depicted satisfied agreement. Overgrowth of spinal EF was more commonly found at L2-3 and L3-4 levels in present study, and body weight, age, and gender were significantly associated with amounts of EF both on CT and MRI.The CT scan is a satisfied alternative of MRI for the evaluation of spinal epidural adipose tissue.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Lipoma/diagnóstico por imagem , Vértebras Lombares , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
9.
Zhonghua Yi Xue Za Zhi ; 100(4): 265-269, 2020 Feb 04.
Artigo em Chinês | MEDLINE | ID: mdl-32075353

RESUMO

Objective: To compare and analyze the effect of minimally invasive surgery and traditional open surgery in patients with spinal canal tumors, including intraspinal and extraspinal communication tumors. Methods: From 2017 to 2019, 31 patients (minimally invasive channel group) were included in the neurosurgery department of Huashan Hospital Affiliated to Fudan University, and 38 patients (open operation group) were selected as the control group. From the aspects of intraoperative condition, operative effect, postoperative muscle injury, postoperative complications, postoperative spinal stability, the minimally invasive access group and the open operation group were compared and analyzed. Results: The bleeding volume (70.2 ml±4.9 ml), operation time (164.7 min±16.0 min) and hospitalization days (9.5±2.5) in the minimally invasive access group were significantly lower than those in the open operation group (P<0.001). The creatine kinase CK (363.9 U/L±51.6 U/L) in the minimally invasive group was significantly lower than that in the open group (514.2 U/L±68.3 U/L) (P<0.001). According to Panjabi standard, the effect of spinal cord stability in minimally invasive group was significantly lower than that in open operation group (P<0.001), and the symptom improvement rate in minimally invasive group was significantly higher than that in open hand group (P<0.05). Conclusions: Compared with the open surgery, the amount of bleeding, the length of incision, the time of operation and the days of hospitalization were significantly shorter, the degree of muscle damage was also significantly reduced, the incidence of complications was lower, the impact of spinal stability was smaller, and the overall advantage was obvious.


Assuntos
Vértebras Lombares , Neoplasias da Coluna Vertebral , Humanos , Procedimentos Cirúrgicos Minimamente Invasivos , Estudos Retrospectivos , Resultado do Tratamento
10.
J Surg Oncol ; 121(6): 1036-1041, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32034772

RESUMO

BACKGROUND AND OBJECTIVES: The ACS-NSQIP surgical risk calculator is an online tool that estimates the risk of postoperative complications. Sacrectomies for chordoma are associated with a high rate of complications. This study was to determine if the ACS-NSQIP calculator can predict postoperative complications following sacrectomy. METHODS: Sixty-five (42 male, 23 female) patients who underwent sacrectomy were analyzed using the Current Procedural Terminology (CPT) codes: 49215 (excision of presacral/sacral tumor), 63001 (laminectomy of sacral vertebrae), 63728 (laminectomy for biopsy/excision of sacral neoplasm) and 63307 (sacral vertebral corpectomy for intraspinal lesion). The predicted rates of complications were compared to the observed rates. RESULTS: Complications were noted in 44 (68%) patients. Of the risk factors available to input to the ACS-NSQIP calculator, tobacco use (OR, 20.4; P < .001) was predictive of complications. The predicted risk of complications based off the CPT codes were: 49215 (16%); 63011 (6%); 63278 (11%) and 63307 (15%). Based on ROC curves, the use of the ACS-NSQIP score were poor predictors of complications (49215, AUC 0.65); (63011, AUC 0.66); (63307, AUC 0.67); (63278, AUC 0.64). CONCLUSION: The ACS-NSQIP calculator was a poor predictor of complications and was marginally better than a coin flip in its ability to predict complications following sacrectomy for chordoma.


Assuntos
Cordoma/cirurgia , Sacro/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Curva ROC , Risco , Sacro/patologia , Neoplasias da Coluna Vertebral/patologia
11.
Medicine (Baltimore) ; 99(5): e18643, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32000368

RESUMO

INTRODUCTION: Metastatic mesenchymal chondrosarcoma of the spine is a highly unusual disease without standard curative managements yet. The objective of this case report is to present a very rare case of metastatic chondrosarcoma to the spine successfully operated by surgical treatment. The management of these unique cases has yet to be well-documented. PATIENT CONCERNS: A 34-year-old woman presented with a 4-month history of continuous and progressive back pain and a 1-month history of radiating pain of bilateral lower extremities. The patient, who had been diagnosed of mesenchymal chondrosarcoma of maxillary sinus for 3 years, received surgical treatment of palliative endoscopic-assisted total left maxillary resection via mini Caldwell-Luc approach, and palliative enlarged resection due to the progress of residual lesions, followed by no adjuvant therapy. Multiple lytic, expanding lesions of the spine and paraspinal region with severe epidural spinal cord compression was identified. DIAGNOSIS: CT, MRI and bone scan of spine showed spinal cord compression secondary to the epidural component of the metastatic lesions. Post-operative pathology confirmed the diagnosis of metastatic spinal mesenchymal chondrosarcomas. INTERVENTIONS: The patient underwent posterior spinal canal decompression, resection of T12 and L3 lesions, internal fixation of T11-L5 pedicles, and cement augmentation of T12 and L3. OUTCOMES: The patient's neurological deficits improved significantly after the surgery, and the postoperative period was uneventful at the 1-year follow-up visit. There were no complications associated with the spinal surgery during the follow-up period. CONCLUSION: Metastatic spinal mesenchymal chondrosarcoma, although rare, should be part of the differential diagnosis when the patient presents with back pain and radiculopathy. We recommend the posterior approach for spinal decompression and total resection of the metastatic chondrosarcoma when the tumor has caused neurological deficits or other severe symptoms. Osteoplasty by cement augmentation is also a good choice for surgical treatment in some patients.


Assuntos
Condrossarcoma Mesenquimal/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/secundário , Feminino , Humanos , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/patologia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/secundário
12.
Medicine (Baltimore) ; 99(5): e18939, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32000411

RESUMO

RATIONALE: Diagnosing and treating refractory cancer pain have become standardized and effective procedures with guidance from the Expert Consensus on Refractory Cancer Pain released in 2017 by the Committee of Rehabilitation and Palliative Care of China. Doxorubicin has been used for perineural injection in the treatment of chronic non-cancer pain owing to its retrograde sensory ganglion resection effect. Our study reports a new fourth-ladder treatment for cancer pain: CT-guided paravertebral doxorubicin injection for patients with refractory cancer pain caused by paraspinal metastasis. PATIENT CONCERNS: A 48-year-old female and a 47-year-old male patients suffered from refractory cancer pain over the past months. They had both undergone surgical tumor resection, chemotherapy, and precision radiotherapy but result in limited analgesic effect. The daily oral morphine dosage was around 60 to 100 mg and rescue analgesic methods had been used at the time. DIAGNOSES: Refractory cancer pain in 2 patients with renal cancer and hepatobiliary adenocarcinoma. INTERVENTIONS: The patients both received computed tomography (CT)-guided 1 mL of 0.5% doxorubicin paravertebral injection at each affected nerve root segments. OUTCOMES: The Visual Analog Scale and Douleur Neuropathique four Questions were used for 6-month follow-up, and the analgesic requirement was also recorded. The patients enjoyed satisfactory analgesia for up to 6 months without adverse reaction. In addition, the oral opioid analgesic doses were significantly reduced after the neurolytic block. LESSONS: The CT-guided paravertebral doxorubicin injection was an effective fourth-step analgesic interventional technology that allowed our 2 patients with refractory cancer pain to maintain satisfactory analgesia. This analgesia method taken at an appropriate stage, according to the latest analgesic concept, results in good analgesia and opioid use reduction. Also, with the imaging guidance, only a small amount of neurolytic agent is needed to achieve analgesia in a precise and safe way.


Assuntos
Analgésicos/administração & dosagem , Dor do Câncer/tratamento farmacológico , Doxorrubicina/administração & dosagem , Dor Intratável/tratamento farmacológico , Neoplasias da Coluna Vertebral/secundário , Tomografia Computadorizada por Raios X , Dor do Câncer/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Manejo da Dor/métodos , Dor Intratável/diagnóstico por imagem , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/tratamento farmacológico
13.
Phys Ther ; 100(3): 554-563, 2020 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-32043130

RESUMO

Bones are the third most common site for cancer metastases, and the axial skeleton is the most frequent skeletal location. In a postmortem study, bone metastases were reported in 70% of breast and prostate cancer patients. Bone metastases from breast, lung, prostate, thyroid, and kidney cancers account for 80% of all bone metastases. Bone lesions exist in 60% of newly diagnosed multiple myeloma patients. With increasing numbers of people who have survived cancer, many patients with cancer and axial skeletal bony metastases will be seen by physical and occupational therapists. Guidelines are lacking on how to perform physical examinations and provide exercise programs for these patients without compromising the diseased spine. In this article, we discuss the available evidence for similar spinal conditions, the biomechanics of spinal load, and changes associated with posture and weight load. We provide recommendations on how to assess a patient's strength, how to strengthen without compromising the diseased spine, and how to teach patients to use correct body mechanics during mobility and activities of daily living.


Assuntos
Sobreviventes de Câncer , Compressão da Medula Espinal/terapia , Neoplasias da Coluna Vertebral/secundário , Fraturas Espontâneas/etiologia , Fraturas Espontâneas/prevenção & controle , Humanos , Instabilidade Articular/diagnóstico , Movimento/fisiologia , Postura/fisiologia , Fatores de Risco , Sensibilidade e Especificidade , Compressão da Medula Espinal/complicações , Compressão da Medula Espinal/diagnóstico , Fraturas da Coluna Vertebral/prevenção & controle , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Suporte de Carga
14.
BMC Med Genet ; 21(1): 42, 2020 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-32106822

RESUMO

BACKGROUND: von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expected to be phenotypically silent and their role in VHL disease remains poorly understood. CASE PRESENTATION: We report a Caucasian male with a family history of pheochromocytoma and the synonymous VHL mutation c.414A > G (p.Pro138Pro). At 47-years, MRI revealed pheochromocytoma in the left adrenal gland and hemangioblastomas in the spine and brain. Pheochromocytoma was treated by adrenalectomy. Radiotherapy, followed by craniotomy and resection were needed to reduce hemangioblastomas to residual lesions. Two of three of the proband's children inherited the mutation and both presented with retinal hemangioblastomas without pheochromocytoma at age 7: one twin needed four laser treatments. Primary skin fibroblasts carrying the heterozygous mutation or wild type VHL were established from the family. Mutant fibroblasts downregulated full-length VHL mRNA and protein, and upregulated the short VHL mRNA isoform (a result of exon 2 skipping in splicing) at the mRNA level but not at the protein level. CONCLUSIONS: Our study shows that the synonymous VHL mutation c.414A > G can within 7 years induce pediatric retinal hemangioblastoma in absence of pheochromocytoma. This highlights the need to include splicing-altering synonymous mutations into the screening for VHL disease. This is also the first report on detecting and validating a synonymous VHL mutation using patient-derived fibroblasts. The mutation c.414A > G translates to p.Pro138Pro, yet it is not functionally silent, because it causes aberrant splicing by skipping exon 2. The reduced but not completely abolished pVHL protein in a loss-of-heterozygosity genetic backdrop may underlie the etiology of VHL disease.


Assuntos
Neoplasias Cerebelares/genética , Hemangioblastoma/genética , Processamento de RNA/genética , Mutação Silenciosa , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Criança , Pré-Escolar , Família , Feminino , Mutação da Fase de Leitura/genética , Mutação em Linhagem Germinativa , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/genética , Linhagem , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Prolina/genética , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/genética , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
15.
Ann Otol Rhinol Laryngol ; 129(7): 657-661, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32037846

RESUMO

BACKGROUND: Medullary thyroid carcinoma (MTC) accounts for 1% to 2% of thyroid cancers in the United States. When identified early, total thyroidectomy is most often curative. However, in advanced disease, more aggressive treatment such as laryngectomy and esophagectomy may be indicated. Postsurgical fistula formation and leak is a potential complication in such cases. These fistulas are most likely to occur at the anastomotic site in cases of laryngectomy or esophagectomy. Concomitant chemotherapy and radiation increase this risk. Tyrosine kinase inhibitors (TKI) such as Cabozantinib are used as therapy for metastatic MTC. These drugs have previously been associated with dehiscence of anastomotic sites in the gastrointestinal tract. While previously identified in the bowel, this report represents the first documented case of gastropharyngeal anastomosis leak described in the context of TKI use for head and neck cancer. CASE PRESENTATION: We present the case of a 72-year-old male previously diagnosed with MTC. His gastropharyngeal anastomosis status-post laryngopharyngectomy and gastric pull up had been stable for 23 years. Over the past year, he developed back pain and was found to have spinal metastases of MTC. He was subsequently started on Cabozantinib to slow the progression of the disease. Within months of starting this TKI, a bleeding pharyngocutaneous fistula developed at the anastomosis site of the gastric pull up and pharynx. Upon discontinuation of Cabozantinib, the fistula healed with no further complications. CONCLUSIONS: To our knowledge, this is the first documented case of gastropharyngeal anastomotic leak related to TKI use. A causal relationship is highly plausible given the previously stable anastomosis and the suspicious advent of complications within months of initiation of this new drug. While previously limited to cases of intraabdominal bowel dehiscence, this report now suggests that wound dehiscence must be considered a known side effect of TKIs throughout the gastrointestinal tract, including the gastropharynx. As such, the risk of anastomotic dehiscence should be discussed with the patient prior to starting a TKI.


Assuntos
Fístula Anastomótica/induzido quimicamente , Anilidas/efeitos adversos , Carcinoma Neuroendócrino/tratamento farmacológico , Faringe/cirurgia , Inibidores de Proteínas Quinases/efeitos adversos , Piridinas/efeitos adversos , Neoplasias da Coluna Vertebral/tratamento farmacológico , Estômago/cirurgia , Neoplasias da Glândula Tireoide/tratamento farmacológico , Idoso , Anastomose Cirúrgica , Carcinoma Neuroendócrino/secundário , Carcinoma Neuroendócrino/cirurgia , Esofagectomia , Humanos , Laringectomia , Masculino , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Glândula Tireoide/secundário , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia
16.
World Neurosurg ; 136: 208-212, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31917317

RESUMO

BACKGROUND: En-bloc sacrectomy is the treatment of choice for patients affected by sacral chordoma. It is a radical surgical procedure, which has to face the problem of handling fragile anatomic structures, such as the internal iliac vessels and the sacral nerve roots, with the risk of causing bowel, bladder, and sexual dysfunction. The combined anterior-posterior approach allows for a safer dissection of the tumor from the mesorectal fascia than the mere posterior approach, especially for tumors extending proximally to S3. Robotic surgery can improve the safety of the procedure. Sacral nerve stimulation is an accepted therapeutic option for fecal incontinence and may be used to treat postoperative incontinence. CASE PRESENTATION: We report on a patient affected by sacral chordoma with en-bloc sacrectomy preceded by a robotic-assisted dissection of the mesorectal fascia and on managing the postoperative fecal incontinence by implanting a sacral nerve stimulator on the first postoperative day. To our knowledge this is the first such procedure in the literature. CONCLUSIONS: From our experience, a robotic anterior approach increases safety for the organs in the pelvis when performing a sacrectomy. Moreover, a sacral nerve stimulator should be considered to manage neurologic complications following transection of nerve roots after sacrectomy.


Assuntos
Cordoma/cirurgia , Terapia por Estimulação Elétrica , Incontinência Fecal/etiologia , Incontinência Fecal/terapia , Complicações Pós-Operatórias/terapia , Neoplasias da Coluna Vertebral/cirurgia , Humanos , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Robóticos/métodos , Sacro/inervação
17.
World Neurosurg ; 136: e542-e552, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31954884

RESUMO

OBJECTIVE: To evaluate the safety and efficacy of an enhanced recovery after surgery (ERAS) program for intraspinal tumors in a single-institutional prospective randomized controlled trial. METHODS: A multimodal and multidisciplinary ERAS protocol for intraspinal tumor surgery was developed. A total of 94 enrolled patients were randomized into 2 groups: 48 were managed following the ERAS protocol (ERAS group), and 46 received conventional perioperative care (control group). The primary end point was postoperative length of stay (LOS). The secondary outcomes included postoperative pain score and pain medication use, urinary catheterization, ambulation, mortality, reoperation/readmission rates, complication rates, patient satisfaction, and overall cost. RESULTS: A significant reduction in LOS was achieved in patients undergoing ERAS protocol compared with the controls (5 vs. 8 days; P < 0.0001). Moreover, patients in the ERAS group had better postoperative pain scores (1.0 ± 1.3 vs. 1.9 ± 1.3; P = 0.007), decreased use of patient-controlled analgesia (4.2% vs. 19.6%; P = 0.020) and oral opioid (37.5% vs. 58.7%; P = 0.040), early urinary catheter removal (58.3% vs. 6.5%; P < 0.0001), greater ambulation (68.8% vs. 17.4%; P < 0.0001), and higher satisfaction scores (91.8 ± 4.4 vs. 88.2 ± 6.8; P = 0.022) than did the control group. There were no deaths or 30-day readmission/reoperation in both groups, nor did the postoperative complication rates differ between groups. CONCLUSIONS: The ERAS protocol for intraspinal tumor surgery seems to be feasible, effective, and safe in shortening postoperative LOS, improving postoperative pain control with reduced opioid use, and accelerating functional recovery without increasing rates of complications or reoperation/readmission. Adoption of spine ERAS programs could be encouraged in practice, although validation with larger-scale multicenter trials is warranted.


Assuntos
Recuperação Pós-Cirúrgica Melhorada , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Idoso , Antineoplásicos/uso terapêutico , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Dor Pós-Operatória/etiologia , Satisfação do Paciente , Assistência Perioperatória/métodos , Estudos Prospectivos , Resultado do Tratamento
18.
Orthopade ; 49(2): 157-168, 2020 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-31996948

RESUMO

BACKGROUND: Spinal tumors are a continuously growing pathology group among the spinal diseases. The often-difficult circumstances increase vulnerability to a wide range of intervention-related complications, which can occur at different times in the course of the disease and must be included in the consideration of the indication. OBJECTIVES: The aim of the work is to present the wide spectrum of complications in the surgical treatment of spinal tumors, as well as their treatment and prophylaxis through optimal therapy management. MATERIALS AND METHODS: The article summarizes the current literature. RESULTS: The literature describes complication rates of 10-67% after metastatic surgery of the spinal column. The most common complications are infections and internal, especially pulmonary, complications. Other relevant complications include surgical positioning/surgical access/instrumentation/mechanical failure, and anesthesiological, neurological, vascular and oncological complications. The socio-economic costs for patients with complications compared to those for patients without complications are twice as high. A special risk situation exists with radical spinal tumor resections. Negative predictors are previous operations, previous irradiation and local recurrences. CONCLUSIONS: An early, interdisciplinary concept can reduce complications significantly. Due to the planning intensity, surgical expertise and comprehensive structural requirements, treatment in an interdisciplinary tumour centre is necessary.


Assuntos
Neoplasias da Coluna Vertebral , Humanos , Recidiva Local de Neoplasia , Procedimentos Neurocirúrgicos , Estudos Retrospectivos , Coluna Vertebral , Resultado do Tratamento
19.
Medicine (Baltimore) ; 99(4): e18603, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977851

RESUMO

RATIONALE: Tumor-induced osteomalacia (TIO) is a highly unusual disease with enormous difficulties in clinical diagnosis and curative managements. The objective of this study is to report a very rare case who underwent surgical treatment of recurrent spinal phosphaturic mesenchymal tumor. The management of these unique cases has yet to be further elucidated. PATIENT CONCERNS: A 52-year-old man presented with a 3-year history of back pain and 1-year history of continuous and progressive systemic bone pain. The patient, who had been diagnosed of TIO for 3 years, received surgical treatment of extended resection of spinal phosphaturic mesenchymal tumor at L5. Somatostatin receptor tomography revealed the expression of somatostatin in the spine increased significantly, with high suspicion of recurrent phosphaturic mesenchymal tumor. DIAGNOSIS: Magnetic resonance imaging of spine and positron emission tomography-computed tomography showed the mass in L5, which was highly indicative of the recurrent pathogenic tumor. Postoperative pathology confirmed the diagnosis of phosphaturic mesenchymal tumor in the spinal region. INTERVENTIONS: The patient underwent posterior L5 tumor resection, bone cement reconstruction, L4-S1 spinal canal decompression, and L3-S2 internal fixation. OUTCOMES: The patient's symptoms improved significantly after the surgery, and we noticed that his hypophosphatemia was successfully corrected after the 2nd operation. Follow-up at 1 month after surgery revealed no recurrence, and the serum phosphorus level of the patient turned to be normal postoperatively. There were no complications associated with the operation during the follow-up period. LESSONS: Taken together, the lesion's clinical features, imaging results, and pathologic characteristics are unique. Combined efforts of specialists from orthopedics, endocrinology, nuclear medicine, radiology, pathology, and medical oncology led to the successful diagnosis and management of this patient. TIO, although rare, should be part of the differential diagnosis when the patient has a history of hypophosphatemia and systemic multiple bone pain. We recommend surgical treatment of the phosphaturic mesenchymal tumor in the spinal region. Osteoplasty by bone cement may be a treatment option for patients with TIO who cannot undergo appropriate surgery or decline open surgery.


Assuntos
Neoplasias de Tecido Conjuntivo/etiologia , Neoplasias da Coluna Vertebral/complicações , Descompressão Cirúrgica/métodos , Humanos , Hipofosfatemia/etiologia , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/cirurgia
20.
Int J Radiat Oncol Biol Phys ; 106(2): 269-278, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-31654785

RESUMO

PURPOSE: The aim of this study was to determine the practice patterns and outcomes of intracranial germ cell tumors (IGCT) in adolescents and young adults according to different therapeutic approaches. METHODS AND MATERIALS: One-hundred twelve patients with IGCT aged 15 to 39 years were managed at either XX or the XY center from 1975 to 2015. The charts were retrospectively reviewed and data collected. RESULTS: Median duration of follow-up was 8.3 years. Ninety-four patients had germinomas, and 18 had nongerminomatous germ cell tumors (NGGCT). The primary disease sites were pineal gland (37 of 94 germinoma, 14 of 18 NGGCT) and suprasellar region (23 of 94 germinoma, 2 of 18 NGGCT). Eleven patients with germinoma (12%) and 2 patients with NGGCT (11%) had radiographic spinal metastases or positive lumbar cerebrospinal fluid cytology. Event-free survival (EFS) was 84% and overall survival (OS) was 90% at 10 years for germinoma; EFS was 71% and OS was 86% at 10 years for NGGCT. For patients with germinoma, 10-year EFS was 100% after craniospinal radiation therapy (CSRT) with chemotherapy (N = 10); 100% after whole-ventricular radiation therapy (WVRT), whole-brain radiation therapy (WBRT), or focal radiation therapy (FRT) with chemotherapy (N = 22); 90% after CSRT alone (N = 46); and 41% after WVRT, WBRT, or FRT alone (N = 16) (P < .0005). Ten-year OS was 100%, 100%, 90%, and 72%, respectively (P = .032). For patients with NGGCT, 10-year EFS was 80% after CSRT, WBRT, or WVRT plus chemotherapy (N = 10) versus 58% after FRT plus chemotherapy (N = 8) (P = .31); 10-year OS was 90% versus 58%, respectively (P = .16). CONCLUSIONS: We report excellent overall outcomes according to treatment approach in the largest study of IGCT in adolescents and young adults to our knowledge. EFS and OS were inferior after non-CSRT without chemotherapy in germinoma.


Assuntos
Neoplasias Encefálicas/terapia , Neoplasias Embrionárias de Células Germinativas/terapia , Adolescente , Adulto , Antineoplásicos/uso terapêutico , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/líquido cefalorraquidiano , Biópsia/estatística & dados numéricos , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/mortalidade , Institutos de Câncer , Gonadotropina Coriônica Humana Subunidade beta/sangue , Gonadotropina Coriônica Humana Subunidade beta/líquido cefalorraquidiano , Radiação Cranioespinal , Intervalo Livre de Doença , Feminino , Germinoma/diagnóstico , Germinoma/mortalidade , Germinoma/secundário , Germinoma/terapia , Humanos , Estimativa de Kaplan-Meier , Masculino , Recidiva Local de Neoplasia , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Embrionárias de Células Germinativas/secundário , Glândula Pineal , Pinealoma/diagnóstico , Pinealoma/mortalidade , Pinealoma/terapia , Padrões de Prática Médica , Dosagem Radioterapêutica , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/mortalidade , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/terapia , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/mortalidade , Neoplasias Testiculares/secundário , Neoplasias Testiculares/terapia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem , alfa-Fetoproteínas/análise , alfa-Fetoproteínas/líquido cefalorraquidiano
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