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1.
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
2.
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
3.
Medicine (Baltimore) ; 98(50): e18285, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852104

RESUMO

RATIONALE: Compressive myelopathy and compression fracture of aggressive vertebral hemangioma after parturition is a rare condition. Vertebral body compression fracture and high serum progesterone lead to extraosseous hemangioma enlargment cause narrowing the spinal canal which contribute to compressive myelopathy relate to pregnancy. PATIENT CONCERNS: We report a case of compressive myelopathy and compression fracture of aggressive vertebral hemangioma after parturition in a 35-year-old woman. The patient complained unable to walk and experienced intense pain in the back. DIAGNOSIS: Based on the clinical features and imaging studies, the patient underwent a T4-T6 laminectomy. Histopathology consistent with vertebral hemangioma. INTERVENTIONS: The patient underwent laminectomy for decompression. After subperiosteal dissection of the paraspinal muscles and exposure of the laminae, there was no involvement of the lamina by the tumor. The epidural tumor was removed through the spaces lateral to the thecal sac. Vertebroplasty was performed through T5 pedicles bilaterally and 7 ml of polymethylmethacrylate (PMMA) cement was injected. T4-T6 pedicle screw fixation was performed for segmental fixation and fusion. OUTCOMES: Six months after resection of the tumor the patient remained asymptomatic. She reported no low back pain and had returned to her normal daily activities, with no radiographic evidence of recurrence on MRI. Physical examination revealed that superficial and deep sensation was restored to normal levels in the lower extremities. LESSONS: The occurrence of compressive myelopathy of pregnancy related vertebral hemangiomas is quite unusual. It can lead to serious neurologic deficits if not treated immediately. So, prompt diagnosis is important in planning optimal therapy and preventing morbidity for patients.


Assuntos
Fraturas por Compressão/complicações , Hemangioma/complicações , Parto , Compressão da Medula Espinal/etiologia , Fraturas da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/complicações , Vértebras Torácicas , Adulto , Descompressão Cirúrgica/métodos , Feminino , Fraturas por Compressão/diagnóstico , Fraturas por Compressão/cirurgia , Hemangioma/diagnóstico , Hemangioma/cirurgia , Humanos , Imagem por Ressonância Magnética , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Compressão da Medula Espinal/diagnóstico , Compressão da Medula Espinal/cirurgia , Fraturas da Coluna Vertebral/diagnóstico , Fraturas da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/cirurgia , Vertebroplastia/métodos
4.
Medicine (Baltimore) ; 98(50): e18413, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852164

RESUMO

RATIONALE: Chondrosarcoma of the sacrum is a highly unusual disease without standard curative managements yet. The objective of this study is to report a very rare case of chondrosarcoma of the sacrum successfully operated by percutaneous vertebroplasty. The management of these unique cases has yet to be well-documented. PATIENT CONCERNS: A 45-year-old woman presented with a five-month history of continuous and progressive pain and numbness of left extremity. A lytic, expanding lesion of the sacrum and paraspinal region with severe epidural spinal cord compression was identified. DIAGNOSIS: MRI of spine showed spinal cord compression secondary to the epidural componant of the giant mass, with increased marrow infiltration of the left S2 vertebral and paravertebral region, which presented as a solid tumor. Post-operative pathology confirmed the diagnosis of sacral well-differentiated chondrosarcoma (stage I B). INTERVENTIONS: The patient underwent percutaneous vertebroplasty and cement augmentation of sacrum via a posterior approach. OUTCOMES: The patient's neurological deficits improved significantly after the surgery, but the patient died of multiple systemic metastases at the 2-year follow-up visit. There were no complications associated with the operation during the follow-up period. LESSONS: Taken together, the lesion's clinical features, imaging results, and pathological characteristics are unique. Combined efforts of specialists from orthopedics, radiology, neurosurgery, pathology, and medical oncology led to the successful diagnosis and management of this patient. Giant sacral 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 of the sacral chondrosarcoma when the tumor has caused neurological deficits or other severe symptoms. Osteoplasty by cement augmentation is also a good choice for surgical treatment.


Assuntos
Condrossarcoma/cirurgia , Sacro/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Condrossarcoma/diagnóstico , Condrossarcoma/patologia , Evolução Fatal , Feminino , Humanos , Dor Lombar/etiologia , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Sacro/diagnóstico por imagem , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/patologia , Vertebroplastia/métodos
5.
Pan Afr Med J ; 33: 199, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692754

RESUMO

Spinal schwannomas are benign tumors accounting for 30% of all spinal tumors. They originate from the shwann cells of the spinal roots. We report our experience in managing patients with spinal shwannomas, from diagnosis to treatment modalities, in the Department of Neurosurgery at the University Hospital Hassan II in Fez over a period of 13 years. The patients with spinal shwannomas accounted for 19.5% of those with spinal cord compression treated surgically over the same period. The average age of patients was 45 years, with a discreet female predominance. Spinal schwannomas had an insidious onset, then the median of consultation time was 18 months. The main symptoms were spinal and radicular pain. Half of our patients had neurological deficits. Medullary MRI was performed in all of our patients. Spinal schwannomas occurred predominantly in the chest (40%); 62% of shwannomas were intradural lesions, rarely extradural lesions (8%) and mixed lesions(4%). Complete Surgical resection was performed in 96% of cases with osteosynthesis in two cases and arthrodesis in a single case. Histological examination confirmed the diagnosis of benign neurinoma in 23 cases, malignant shwannoma in one case and neurofibroma in one case. Outcome was favorable in the majority of cases, two patients had complications, an infection of the wall and neurological worsening. The interest in the subject of our study is to highlight the features of these lesions and to compare the results of our case series with the data in the literature.


Assuntos
Neurilemoma/diagnóstico , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/diagnóstico , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neurilemoma/patologia , Neurilemoma/cirurgia , Neurofibroma/diagnóstico , Neurofibroma/cirurgia , Estudos Retrospectivos , Compressão da Medula Espinal/cirurgia , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Adulto Jovem
6.
Eur J Radiol ; 120: 108672, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31550637

RESUMO

PURPOSE: To determine the diagnostic potential of Intravoxel Incoherent Motion (IVIM) MRI for differentiating malignant spinal tumours from acute vertebral compression fractures and tuberculous spondylitis, and to compare IVIM with diffusion-weighted imaging (DWI) and chemical shift imaging (CSI). METHODS: The Institutional Review Board approved this prospective study, and informed consent was obtained. IVIM MRI, DWI, and CSI at 1.5 T were performed in 25 patients with 12 acute compression fractures, 14 tuberculous spondylitis, and 18 malignant spinal tumours. The parameters of these techniques were assessed using the Kruskal-Wallis test. The diagnostic performance of the parameters was evaluated using receiver operating characteristic (ROC) analysis. RESULTS: ADC, SIR, Dslow, Dfast, and f values of malignant tumours were significantly different from those of acute compression fracture (for all, p < 0.05). The mean Dslow and Dfast values of malignant spinal tumours had significant differences compared with those of tuberculous spondylitis (for all, p < 0.05). However, no significant differences were observed in any quantitative parameters between the acute compression fracture and the tuberculous spondylitis (p > 0.05). Dslow•f showed the highest AUC value of 0.980 (95%CI: 0.942-1.000) in differentiating acute compression fracture and malignant spinal tumours. Dslow showed the highest AUC value of 0.877 (95%CI: 0.713-0.966) in differentiating tuberculous spondylitis and malignant spinal tumours. CONCLUSIONS: IVIM MR imaging may be helpful for differentiating malignant spinal tumours from acute vertebral compression fractures and tuberculous spondylitis.


Assuntos
Fraturas por Compressão/diagnóstico , Fraturas da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Espondilite Anquilosante/diagnóstico , Tuberculose da Coluna Vertebral/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Movimento (Física) , Projetos Piloto , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade
7.
BMJ Case Rep ; 12(8)2019 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-31471355

RESUMO

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Linfangiectasia Intestinal/diagnóstico , Linfedema/diagnóstico , Fenótipo , Vértebras Cervicais , Quilotórax/diagnóstico , Quilotórax/etiologia , Anormalidades Craniofaciais/complicações , Erros de Diagnóstico , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Linfangiectasia Intestinal/complicações , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/etiologia , Linfedema/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/etiologia
8.
BMJ Case Rep ; 12(8)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31439556

RESUMO

Merkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine tumour of the skin. While localised disease carries an overall favourable prognosis, metastatic disease is associated with poor clincal outcomes. Most cases of metastatic MCC are managed with systemic chemotherapy or immunotherapy, though 5-year survival for these patients remains a dismal 17%. Here, we present the case of a 79-year-old man with MCC of the right ear with metastases to regional lymph nodes, ipsilateral parotid gland and thoracic spine. He was treated with a combination of first-line radiotherapy and concurrent immune checkpoint inhibition (avelumab), which led to complete clinical regression of disease with minimal adverse effects. This observation suggests that combined radio-immunotherapy warrants larger-scale investigation for use in patients with unresectable MCC.


Assuntos
Carcinoma de Célula de Merkel/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Idoso , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/uso terapêutico , Carcinoma de Célula de Merkel/secundário , Carcinoma de Célula de Merkel/terapia , Terapia Combinada , Orelha Externa , Humanos , Imunoterapia , Masculino , Metástase Neoplásica , Estadiamento de Neoplasias , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/terapia , Vértebras Torácicas
9.
BMJ Case Rep ; 12(8)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31439569

RESUMO

Phaeochromocytomas are rare neuroendocrine tumours (NET) with malignant behaviour in about 10% of cases. The median time from the diagnosis of primary tumour and bone metastasis is 3.4 years. We report a case of a 66-year-old woman presenting with a hypertensive crisis and back pain. She has a history of a phaeochromocytoma completely resected 18 years before. MRI showed a neoplastic mass on the 10th thoracic vertebra (T10), with fracture and spinal cord compression. The CT-guided biopsy was consistent with metastasis of a NET. Therefore, she was treated with phenoxybenzamine and external beam radiotherapy. However, clinical (dorsal pain) and biochemical (ie, elevated chromogranin A) signs suggested persistent disease and the patient was treated with iodine-131 metaiodobenzylguanidine and T10 kyphoplasty. After 8 years, she remains clinically stable. This case demonstrates that phaeochromocytomas may reveal malignant behaviour several years after diagnosis, and therefore patients should be maintained under long term surveillance.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Vértebras Torácicas , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Idoso , Dor nas Costas/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Metástase Neoplásica , Feocromocitoma/secundário , Feocromocitoma/cirurgia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/cirurgia , Tomografia Computadorizada por Raios X
10.
World Neurosurg ; 130: 313-316, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31295618

RESUMO

BACKGROUND: Intraosseous locations are extremely rare when it comes to schwannomas and account for 0.2% of primary bone tumors. The most common intraosseous locations include the mandible and sacrum, while cervical, thoracic, and lumbar spine lesions are even more uncommon. CASE DESCRIPTION: We describe a 56-year-old female patient with incidental finding of an intraosseous lytic lesion within the vertebral body of T1. Complete surgical excision was performed with instrumented fusion. Histopathology results confirmed a World Health Organization grade I schwannoma. CONCLUSIONS: Our case is the fourth case of purely intraosseous schwannoma described in the mobile spine in the literature, with good results both clinically and radiologically after complete surgical resection.


Assuntos
Vértebras Lombares/cirurgia , Neurilemoma/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Neurilemoma/diagnóstico , Sacro/patologia , Neoplasias da Coluna Vertebral/diagnóstico , Tomografia Computadorizada por Raios X/métodos
11.
Br J Radiol ; 92(1103): 20190211, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31322920

RESUMO

Spine metastatic disease is an increasingly common occurrence in cancer patients due to improved patient survival. Close proximity of the bony spinal column to the spinal cord limits many conventional treatments for metastatic disease. In the past decade, we have witnessed dramatic advancements in therapies, with improvements in surgical techniques and recent adoption of spine stereotactic radiotherapy techniques leading to improved patient outcomes. Multidisciplinary approaches to patient evaluation, treatment and follow-up are essential. Imaging plays an ever increasing role in disease detection, pre-treatment planning and assessment of patient outcomes. It is important for the radiologist to be familiar with imaging algorithms, best practices for surgery and/or radiotherapy and imaging findings in the post-treatment period that may indicate disease recurrence. In this review, we present a multidisciplinary discussion of spine metastases, with specific focus on pre-treatment imaging, planning, current treatment approaches, and post-treatment assessment.


Assuntos
Neoplasias da Coluna Vertebral/secundário , Idoso , Diagnóstico Diferencial , Seguimentos , Humanos , Imobilização/métodos , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Planejamento de Assistência ao Paciente , Imagem de Perfusão/métodos , Cuidados Pós-Operatórios/métodos , Radiocirurgia/métodos , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/terapia
12.
World Neurosurg ; 130: 479-483, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31295588

RESUMO

BACKGROUND: Vascular tumors of the spine range from benign hemangiomas to malignant angiosarcomas. Hemangioendotheliomas of spine are tumors of intermediate-grade malignancy with rare occurrence in the intradural location. The imaging and histopathologic features may mimic other common lesions occurring at this location. CASE DESCRIPTION: A 70-year-old woman presented with lower limb weakness and sensory impairment along the L5-S1 dermatome. A radiologic diagnosis of neurofibroma at the intradural location of the L4-L5 level was made, and total excision of the space-occupying lesion was done. Histopathologic examination, however, revealed a vascular tumor consistent with hemangioendothelioma, which was confirmed by immunohistochemical analysis. We present this case discussing the dilemmas and difficulties in arriving at the diagnosis, highlighting the role of immunohistochemical aid. CONCLUSION: Histomorphology, aided by ancillar tests like immunohistochemistry, remains the criterion for the definitive diagnosis of such rare lesions, and pathologists need to be aware of these lesions occurring in uncommon locations.


Assuntos
Dura-Máter/patologia , Hemangioendotelioma/diagnóstico , Neoplasias da Coluna Vertebral/irrigação sanguínea , Neoplasias da Coluna Vertebral/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Hemangioendotelioma/patologia , Humanos , Região Lombossacral/patologia , Neoplasias da Coluna Vertebral/patologia
13.
Spine (Phila Pa 1976) ; 44(20): E1188-E1195, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31261273

RESUMO

STUDY DESIGN: A retrospective data review. OBJECTIVE: To evaluate the efficacy of CyberKnife (CK) stereotactic radiosurgery (SRS) for thyroid spinal metastasis (SMs). SUMMARY OF BACKGROUND DATA: Thyroid carcinoma is an infrequent cause of SM. The absolute efficacy of SRS generally and CK in particular remains poorly characterized for thyroid SM. The current study is the first to specifically evaluate the efficacy of CK SRS for thyroid SMs. METHODS: A retrospective review of patients at our institution between 2003 and 2013 was done. Details about tumor location, radiographic findings before and after CK SRS, tumor recurrence, prescription isodose level, total and maximum dose, number of fractions, and gross tumor volume coverage were similarly collected. For comparison with other studies, the biologically effective dose and the equivalent total dose in 2 Gy fractions were calculated. Each patient was assessed for survival and local disease control from the time of the first CK session and survival analysis was carried out using the Kaplan-Meier method. Risk factors for local failure were assessed using multivariate logistic regression. RESULTS: A total of 12 patients with 32 spinal metastases from thyroid carcinoma that were treated with CK SRS were identified. Survival for 1, 2, and 3 years was 55%, 44%, and 33%, and local control was 67%, 56%, and 34% respectively. The study found that the single strongest factor associated with local control was prior radiotherapy (ß-coefficient -27.72, P = 0.01). No complications occurred in the immediate or late follow-up period. CONCLUSION: This was the first study to specifically investigate the efficacy of CK for treatment of thyroid SMs. Our findings suggest that CK can be safely used to treat spinal SMs from thyroid cancer and is associated with a high rate of local control. LEVEL OF EVIDENCE: 4.


Assuntos
Gerenciamento Clínico , Radiocirurgia/métodos , Neoplasias da Coluna Vertebral/radioterapia , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Glândula Tireoide/radioterapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/radioterapia , Recidiva Local de Neoplasia/secundário , Estudos Retrospectivos , Fatores de Risco , Neoplasias da Coluna Vertebral/diagnóstico , Análise de Sobrevida , Neoplasias da Glândula Tireoide/diagnóstico , Resultado do Tratamento
14.
World Neurosurg ; 130: 235-239, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31302271

RESUMO

BACKGROUND: Relatively few cases of total en bloc spondylectomy (TES) for the L5 tumors have been reported. TES in the lower lumbar region is usually performed through a combined anterior and posterior approach. TES for L5 tumors by a posterior-only approach is technically challenging. CASE DESCRIPTION: A 62-year-old woman with persistent pain in her lumbosacral area and lower extremities and numbness of her lateral left lower extremity for 2 months came to our department. She had undergone radical mastectomy 4 years earlier. X-ray and magnetic resonance imaging (MRI) showed that the tumor had destroyed the vertebral body of L5. No other lesions were revealed by emission computed tomography (ECT) or positron emission tomography/computed tomography (PET/CT). With a diagnosis of breast cancer and a solitary metastasis to L5, the patient was treated with posterior-only TES of the L5 tumor and reconstruction. The whole procedure took 10 hours, and her intraoperative blood loss was 9000 mL. The lumbar and leg pain of the patient disappeared postoperatively without serious complications. She started walking 4 weeks after surgery and resumed her daily life. New multiple metastases developed 6 months after surgery, with no sign of local recurrence. Despite active treatment, she died 18 months after surgery. CONCLUSION: TES of the L5 tumor can be achieved by a posterior-only approach, with good results and limited complications.


Assuntos
Neoplasias da Mama/cirurgia , Vértebras Lombares/cirurgia , Região Lombossacral/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Feminino , Humanos , Região Lombossacral/patologia , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/cirurgia , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Neoplasias da Coluna Vertebral/diagnóstico
15.
World Neurosurg ; 130: 459-466, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31349078

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST), which refers to any malignant tumor that originates from peripheral nerve sheath cells, is rarely found in the spine. Primary intraosseous spinal MPNSTs are extremely uncommon; in fact, such an occurrence has been reported in a very limited number of cases hitherto. We report here one case of low-grade intraosseous MPNST in the lumbar vertebrae and review clinical research related to this rare tumor and modus operandi to its treatment. CASE DESCRIPTION: A 51-year-old man suffering from lower back pain was initially diagnosed with lumbar tuberculosis. The intraoperative histopathologic examination, however, revealed that the occupying lesion was synovial sarcoma when surgeons intended to perform a debridement surgery of what was thought to be tuberculosis. The operation was therefore suspended. Two months later, the patient was referred to our institution. The pathologic sections were reexamined. Its results refuted the earlier thought of being synovial sarcoma, and a final diagnosis of MPNST was made. In addition, preoperative examination revealed that the tumor had advanced rapidly to the adjacent inferior vena cava and pedicle, which ruled out the possibility of performing a total en bloc spondylectomy. Therefore, a marginal resection for 2-level consecutive lumbar vertebrae was performed successfully via an anterior-posterior combined approach. No serious complications were detected at 18-month follow-up. CONCLUSIONS: Preoperative biopsy is of great importance for the diagnosis of spinal tumors. Marginal resection of a complicated intraosseous spine MPNST via an anterior-posterior combined approach, despite being technically challenging, resulted in good survival and functional outcomes.


Assuntos
Vértebras Lombares/cirurgia , Neoplasias da Bainha Neural/cirurgia , Neoplasias do Sistema Nervoso Periférico/cirurgia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Bainha Neural/diagnóstico , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/cirurgia , Nervos Espinhais/cirurgia
16.
Spine (Phila Pa 1976) ; 44(13): E782-E787, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31205174

RESUMO

STUDY DESIGN: A retrospective review of prospectively collected data. OBJECTIVE: The purpose of this study is to compare and validate several preoperative scores for predicting outcomes following spine tumor resection. SUMMARY OF BACKGROUND DATA: Preoperative risk assessment for patients undergoing spinal tumor resection remains challenging. At present, few risk assessment tools have been validated in this high-risk population. METHODS: The 2008 to 2014 National Surgical Quality Improvement database was used to identify all patients undergoing surgical resection of spinal tumors, stratified as extradural, intradural extramedullary, and intramedullary based on CPT codes. American Society of Anesthesiologists (ASA) score, modified Charlson Comorbidity Index (CCI), and modified Frailty Index (mFI) were computed. A binary logistic regression model was used to explore the relationship between these variables and postoperative outcomes, including mortality, major and minor adverse events, and hospital length of stay (LOS). Other significant variables such as demographics, operative time, and tumor location were controlled for in each model. RESULTS: Two thousand one hundred seventy patients met the inclusion criteria. Higher CCI scores were independent predictors of mortality (OR = 1.24, 95% CI: 1.14-1.36, P < 0.001), major adverse events (OR = 1.07, 95% CI: 1.01-1.31, P = 0.018), minor adverse events (OR = 1.15, 95% CI: 1.10-1.20, P < 0.001), and prolonged LOS (OR = 1.14, 95% CI: 1.09-1.19, P < 0.001). Patients' mFI scores were significantly associated with mortality and LOS, but not major or minor adverse events. ASA scores were not associated with any outcome metric when controlling for other variables. CONCLUSION: The CCI demonstrated superior predictive capacity compared with mFI and ASA scores and may be valuable as a preoperative risk assessment tool for patients undergoing surgical resection of spinal tumors. The validation of assessment scores is important for preoperative risk stratification and improving outcomes in this high-risk group. LEVEL OF EVIDENCE: 3.


Assuntos
Anestesiologistas/normas , Fragilidade/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Cuidados Pré-Operatórios/normas , Sociedades Médicas/normas , Neoplasias da Coluna Vertebral/diagnóstico , Adulto , Idoso , Feminino , Fragilidade/epidemiologia , Fragilidade/cirurgia , Humanos , Tempo de Internação/tendências , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/efeitos adversos , Procedimentos Neurocirúrgicos/normas , Complicações Pós-Operatórias/epidemiologia , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Melhoria de Qualidade/normas , Estudos Retrospectivos , Medição de Risco/métodos , Medição de Risco/normas , Fatores de Risco , Neoplasias da Coluna Vertebral/epidemiologia , Neoplasias da Coluna Vertebral/cirurgia
17.
Am J Case Rep ; 20: 773-775, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31152144

RESUMO

BACKGROUND Chordoma is a primary bone tumor that most commonly arises in the sacrococcygeal vertebrae and the spheno-occipital areas. Chordoma is a malignant tumor that should be distinguished from benign notochordal cell tumor (BNCT) of the spine. This report is of a rare case of axial chordoma and describes the challenging approach to diagnosis and management. CASE REPORT A 50-year-old woman presented with a one-year history of a slowly growing swelling in the sacral region. She complained of numbness and progressive weakness in both lower limbs, and urinary incontinence. Computed tomography (CT) imaging showed a large destructive lesion involving the sacrum and coccyx with cranial extension to level S2 and invasion of the right and left S2-S3 neural foramina, sacral nerves, left gluteus maximums muscle, and adjacent subcutaneous tissue. The management approach included the early involvement of a multidisciplinary clinical team. En bloc resection of the tumor through an anterior and posterior approach was performed, and the defect was reconstructed later using bilateral rotational gluteal fascial flaps. CONCLUSIONS Axial chordoma is a very rare, locally aggressive, and highly recurrent primary tumor of bone. The clinical management is challenging and requires early involvement of a multidisciplinary team. Following surgical resection, careful selection from limited available reconstructive surgical options is necessary to ensure that the surgical defect is repaired.


Assuntos
Cordoma/diagnóstico , Cóccix , Sacro , Neoplasias da Coluna Vertebral/diagnóstico , Cordoma/complicações , Cordoma/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgia , Tomografia Computadorizada por Raios X
18.
J Am Anim Hosp Assoc ; 55(4): e55403, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31099609

RESUMO

A 6 mo old male castrated bloodhound-Rhodesian ridgeback mix (case 1) presented for a mass suspected to be a dermoid sinus in the thoracolumbar region, and a 2.5 yr old male castrated Rhodesian ridgeback (case 2) presented for a mass suspected to be a dorsal cervical dermoid sinus. Both dogs underwent single-phase contrast computed tomography (CT) to characterize the extent of the dermoid sinus prior to surgical excision. Soft tissue and bony abnormalities of the vertebral spine associated with the dermoid sinuses were confirmed in both dogs prior to surgery, demonstrating communication with the dura of the spinal cord. Surgical exploration and excision of the dermoid sinus was performed in each dog, including partial laminectomy. Both cases had resolution of the sinus and an uncomplicated recovery. These cases show that single-phase contrast CT was accurate in characterizing the extent of the dermoid sinus without adjunctive tests or more invasive diagnostics. Single-phase contrast CT should be considered as a preoperative method to characterize the extent of dermoid sinuses, avoiding the risks associated with myelography or fistulography and the expense of MRI. This is also the first report of a dermoid sinus in the thoracolumbar region and the first in a bloodhound and Rhodesian ridgeback mix.


Assuntos
Cisto Dermoide/veterinária , Doenças do Cão/diagnóstico , Neoplasias da Coluna Vertebral/veterinária , Tomografia Computadorizada por Raios X/veterinária , Animais , Cisto Dermoide/diagnóstico , Cisto Dermoide/patologia , Cisto Dermoide/cirurgia , Doenças do Cão/patologia , Doenças do Cão/cirurgia , Cães , Laminectomia/veterinária , Masculino , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/patologia
19.
World Neurosurg ; 128: e1034-e1047, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31103761

RESUMO

OBJECTIVE: The Spinal Instability Neoplastic Score (SINS) is widely used to assess mechanical instability in metastatic spine disease. We sought to identify a cutoff within the "potentially unstable" category, above which lesions were more likely than not to be stabilized. METHODS: We retrospectively reviewed all patients consulted for metastatic spine disease over a 1-year period. Patients were included if they were neurologically intact and had complete medical records, including preoperative imaging of every tumor-involved level. Examined variables included epidural spinal cord compression, SINS, revised Tokuhashi grade, age at consultation, and Karnofsky Performance Status. The primary endpoint was whether or not the lesions were stabilized. RESULTS: The study cohort comprised 51 patients (average age, 61 ± 2 years) with a total of 436 lesions; 50.5% were lytic, and 31.4% were blastic. The most common primaries were lung (n = 12), breast (n = 10) and prostate (n = 8). The median SINS across all lesions was 5. In both lesion- and patient-based analysis, a SINS ≥10 portended a >50% probability of undergoing stabilization; only 11% of all patients with a SINS ≤9 underwent instrumented fusion. Multivariable analysis demonstrated that SINS (odds ratio [OR], 2.44; P < 0.01) and Karnofsky Performance Status (OR, 1.10; P < 0.01) were independent predictors of stabilization. CONCLUSIONS: For vertebrae affected by metastatic disease, the decision to stabilize remains dependent on both the radiographic lesion properties and the patient's clinical picture. However, our results suggest that lesions with a SINS of ≤9 might not require stabilization.


Assuntos
Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/secundário , Feminino , Humanos , Avaliação de Estado de Karnofsky , Masculino , Pessoa de Meia-Idade , Prognóstico , Curva ROC , Estudos Retrospectivos , Fraturas da Coluna Vertebral/diagnóstico , Fraturas da Coluna Vertebral/etiologia , Fraturas da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/cirurgia
20.
World Neurosurg ; 122: e639-e646, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-31108080

RESUMO

BACKGROUND: Vertebroplasty and kyphoplasty are minimally invasive techniques used to treat vertebral compression fractures. The etiology of vertebral compression fractures varies among patients. Although osteoporosis and trauma are major etiologic factors in patients with a vertebral compression fracture, unexpected results were found in 11 patients in the present study. The aim of the present retrospective study was to determine the incidentally detected pathology results of patients with vertebral fracture treated by vertebroplasty and kyphoplasty. METHODS: From February 2010 to November 2015, 616 patients with a vertebral compression fracture were treated by kyphoplasty and vertebroplasty at our institution. Vertebral biopsies were obtained from 533 patients during a vertebral augmentation technique. The average patient age was 62.4 years. Of the 616 patients, 388 were female and 228 were male. Histological evaluation of the biopsy specimens from the vertebral compression fractures was performed. RESULTS: The biopsy results of 505 patients showed various stages of bone healing. Among these patients, malignancy was identified in 23 patients, and 43 patients had a history of malignancy. In 6 patients, an unsuspected malignancy was found, and 1 patient had Paget's disease. Infection was detected in 4 patients. In our study, the rate of unsuspected malignancy was 1.1%. CONCLUSIONS: Tissue examination is useful and could reveal pathologic fractures. An incidentally detected biopsy result could change the treatment of patients; however, bone biopsy should be reserved for those patients whose preoperative radiological diagnosis raises suspicion of a nonosteoporotic etiology.


Assuntos
Fraturas por Compressão/cirurgia , Achados Incidentais , Cifoplastia , Fraturas da Coluna Vertebral/cirurgia , Vertebroplastia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas por Compressão/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteíte Deformante/diagnóstico , Osteíte Deformante/patologia , Estudos Retrospectivos , Fraturas da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/patologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Coluna Vertebral/cirurgia , Adulto Jovem
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