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1.
JBJS Case Connect ; 12(2)2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-36099455

RESUMO

CASE: A 64-year-old man presented 18 months after total hip arthroplasty complicated by vascular injury with a history of leg pain, inability to mobilize, and progressive chronic leg edema. It is presumed that there was persistent subtle bleeding over time with pseudoaneurysm formation and prosthetic hip dislocation secondary to the mass effect. CONCLUSION: Physicians should consider pseudoaneurysm as a possible diagnosis when confronted with a large intra-articular mass in the hip after a relatively short follow-up period, particularly in the context of a prior vascular injury at the time of the index procedure.


Assuntos
Falso Aneurisma , Artroplastia de Quadril , Luxação do Quadril , Luxações Articulares , Lesões do Sistema Vascular , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/etiologia , Falso Aneurisma/cirurgia , Artroplastia de Quadril/efeitos adversos , Luxação do Quadril/diagnóstico por imagem , Luxação do Quadril/etiologia , Luxação do Quadril/cirurgia , Humanos , Luxações Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Lesões do Sistema Vascular/complicações
2.
J Vasc Interv Radiol ; 32(9): 1277-1287, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34089889

RESUMO

PURPOSE: To determine the efficacy and safety of cryoablation in patients with desmoid tumors (DTs) retrospectively over a 10-year period at a single institution. MATERIALS AND METHODS: Between February 25, 2010, and February 25, 2020, 25 patients (age, 12-80 years) with 26 lesions (mean preprocedural tumor volume was 237 cm3) were treated over 44 cryoablation procedures. Eleven patients were treated with first-line therapy. Fourteen patients had previous medical therapy, radiotherapy, and/or surgery. Subsequent clinical follow-up, imaging outcomes, and safety were analyzed for technical success, change in total lesion volume (TLV) and viable tumor volume (VTV), modified response evaluation criteria in solid tumors (mRECIST), progression-free survival (PFS) for tumor progression and symptom recurrence, symptom improvement, and procedure-related complications. Symptomatic improvement was defined as documentation of relief of pain (partial or complete) and/or functional impairment. RESULTS: All procedures were technically successful. At 7-12 months, median changes in TLV and VTV were -6.7% (P = .809) and -43.7% (P = .01), respectively. At 10-12 months, the mRECIST responses were complete response, 0%; partial response, 61.5% (8/13); stable disease, 30.8% (4/13); and progressive disease, 7.7% (1/13). The median PFS for tumor progression and symptom recurrence were not reached, with a median follow-up of 15.3 and 21.0 months, respectively. Symptomatic relief (partial or complete) was achieved in 96.9% (32/33) of patients. One major complication was noted (2.4%). CONCLUSIONS: In this retrospectively identified cohort, cryoablation was effective and safe for the local control of extra-abdominal DTs in short-term follow-up.


Assuntos
Criocirurgia , Fibromatose Agressiva , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Criocirurgia/efeitos adversos , Fibromatose Agressiva/diagnóstico por imagem , Fibromatose Agressiva/cirurgia , Humanos , Pessoa de Meia-Idade , Intervalo Livre de Progressão , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
3.
Cell Death Dis ; 10(1): 21, 2019 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-30622235

RESUMO

Osteosarcoma is a malignant bone sarcoma characterized by extensive genomic disruption and a propensity for metastatic spread. Osteoid production suggests a close relationship with normal osteoblasts, and the latter are the presumptive cell of origin of this disease. The HACE1 gene, localized to human chromosome 6q21, encodes the HACE1 HECT E3 ligase, a tumor suppressor in diverse tumors that acts in part by targeting the activated form of RAC1 GTPase for proteasomal degradation. Disruption or loss of 6q21 is relatively common in osteosarcomas, and Hace1-/-/Tp53+/- mice frequently develop osteosarcomas, in contrast to Tp53+/- mice, which do not. This suggests an unexplored link between HACE1 loss and osteosarcoma. Here we compared HACE1 expression in normal osteoblasts and osteosarcoma cell lines in vitro by western blotting and quantitative RT-PCR, and in human osteosarcoma specimens by immunohistochemistry. Both HACE1 transcript and protein levels were reduced in osteosarcoma compared to osteoblasts in vitro. Reduced HACE1 expression in osteosarcoma tumors was observed in 76% of cases and associated with high-grade lesions. Further, clonally derived pairs of high and low metastatic osteosarcoma cell lines showed significant downregulation in the high compared to corresponding low metastatic cells. Ectopic expression of HACE1 markedly inhibited anchorage-independent growth and cell motility of HACE1 osteosarcoma cell lines, and was associated with reduced RAC1 activation and decreased reactive oxygen species (ROS). Finally, HACE1 overexpression blocked osteosarcoma xenograft growth and dramatically reduced pulmonary metastases. These findings point to a potential tumor suppressor function for HACE1 in osteosarcoma.


Assuntos
Neoplasias Ósseas/metabolismo , Osteossarcoma/metabolismo , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Ubiquitina-Proteína Ligases/genética , Ubiquitina-Proteína Ligases/metabolismo , Animais , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Neoplasias Ósseas/patologia , Linhagem Celular Tumoral , Movimento Celular , Células HEK293 , Xenoenxertos , Humanos , Estimativa de Kaplan-Meier , Masculino , Camundongos , Camundongos Nus , Osteoblastos/metabolismo , Osteossarcoma/patologia , Estresse Oxidativo , Espécies Reativas de Oxigênio/metabolismo , Transfecção , Proteínas rac1 de Ligação ao GTP/metabolismo
4.
Pain Physician ; 20(7): E1053-E1061, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29149150

RESUMO

BACKGROUND: Metastases to the bone are common in cancer patients, and it has been estimated that up to 50% of patients with pelvic bone metastases will not achieve adequate pain control with medications alone. This has led to a paradigm shift over recent years towards the use and development of minimally invasive image-guided treatment options for palliation of bony metastases. Despite these developments, large metastatic lesions are still often considered to be "hopeless cases" that would garner little to no benefit from image-guided intervention. This study is the first large series to describe the novel use of combination percutaneous cryoablation and cementoplasty for palliation of such large metastases to the pelvis. OBJECTIVES: We aim to evaluate the efficacy and safety of image-guided percutaneous cryoablation and cementoplasty for palliation of large pelvic bone metastases. STUDY DESIGN: This retrospective analysis was approved by our institutional review board. This study was conducted from January 2013 to December 2016, where consecutive patients referred for pain management of large pelvic bone metastases underwent combination percutaneous cryoablation and cementoplasty. SETTING: This study took place at a tertiary care center after patients were referred following formal review from a multidisciplinary conference, which was comprised of interventional radiologists, pain management and palliative care physicians, radiation and medical oncologists, and when available, anesthesiologists. METHODS: Forty-eight patients (36 men and 12 women) with a mean cohort age of 77.5 years (range: 52 - 89 years) were referred from the multidisciplinary conference for palliation of pelvic bone metastases. The inclusion criteria included patients with metastases greater or equal to 5.0 cm and significant pain refractory to conventional pain management regimens. All of the patients were deemed not to be surgical candidates. Mean pain scores were collected at numerous time-points along with procedural technical success rates and complication rates. RESULTS: Combination cryoablation and cementoplasty was performed on 48 consecutively referred patients with a 100% technical success rate and no immediate complications. The pain levels demonstrated a significant decrease (P < 0.001) following intervention, with mean pain scores of 7.9 (range: 5 - 10) and 1.2 (range: 0 - 7) throughout the week prior to intervention and at 24 hours post-intervention, respectively. The post-intervention pain scores remained stable at 1 to 9 weeks follow-up (mean: 4.1 weeks). Three patents (6.3%) reported no change in pain following the intervention; however, no patients reported worsened pain. LIMITATIONS: The limitations of this study include its retrospective nature and the length of follow-up, which was often restricted given the life expectancy of our patient cohort. CONCLUSION: Combination cryoablation and cementoplasty is a novel and efficacious treatment option for palliation of large pelvic bone metastases. Marked improvements in pain, as well as mobility and quality of life, are often attainable. KEY WORDS: Pain, palliative care, palliation, percutaneous, cryoablation, cementoplasty, metastases, pelvis, interventional radiology, thermal ablation.


Assuntos
Neoplasias Ósseas/secundário , Neoplasias Ósseas/terapia , Cementoplastia/métodos , Criocirurgia/métodos , Cuidados Paliativos/métodos , Ossos Pélvicos , Neoplasias Pélvicas/secundário , Neoplasias Pélvicas/terapia , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Manejo da Dor , Equipe de Assistência ao Paciente , Radiologia Intervencionista , Estudos Retrospectivos , Resultado do Tratamento
5.
Eur J Radiol ; 84(9): 1782-90, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26104572

RESUMO

Advances in reconstructive orthopaedic techniques now allow for limb salvage and prosthetic reconstruction procedures to be performed on patients who would otherwise be required to undergo debilitating limb amputations for malignant bone tumours. The resulting post-operative imaging of such cases can be daunting for the radiologist to interpret, particularly in the presence of distorted anatomy and unfamiliar hardware. This article reviews the indications for limb salvage surgery, prosthetic reconstruction devices involved, expected post-operative imaging findings, as well as the potential hardware related complications that may be encountered in the management of such cases.


Assuntos
Neoplasias Ósseas/cirurgia , Extremidades/diagnóstico por imagem , Salvamento de Membro , Pelve/diagnóstico por imagem , Pelve/cirurgia , Procedimentos de Cirurgia Plástica , Adulto , Neoplasias Ósseas/patologia , Extremidades/patologia , Humanos , Imageamento por Ressonância Magnética , Pelve/patologia , Próteses e Implantes , Radiografia
6.
Can Urol Assoc J ; 8(5-6): E468-70, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-25024811

RESUMO

Malignancies associated with brachytherapy for prostate cancer are largely unreported in the literature. We report a case of post-brachytherapy osteogenic sarcoma in the pelvis 6 years after permanent (125)I implant for intermediate-risk prostate cancer. The patient was treated with neoadjuvant chemotherapy, limb-sparing surgical resection and postoperative radiation therapy for unexpected positive margins.

7.
J Arthroplasty ; 29(7): 1418-22, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24612735

RESUMO

Chemotherapy may reduce osseointegration of tumor endoprosthesis, while delaying chemotherapy may reduce survival. We studied the effects of chemotherapy and cemented fixation on tumor endoprosthesis survivorship with a retrospective analysis of 50 consecutive patients receiving lower limb salvage surgery. We compared rates of radiographic loosening/revision and effect of cement fixation between chemotherapy/no chemotherapy cohorts. Chemotherapy increased the total revision rate (HR = 3.8 [1-14], P = 0.033), but did not affect aseptic loosening. Cement fixation reduced revision for loosening (HR = 0.09 (0.008-0.98), P = 0.012) and showed less radiographic loosening (HR = 0.09 (0.02-0.51), P = 0.00066). Cement fixation had lower rates of revision for loosening and radiographic loosening regardless of whether chemotherapy was given. We conclude that for these implants, cement fixation provides superior results to uncemented fixation.


Assuntos
Antineoplásicos/uso terapêutico , Cimentos Ósseos/uso terapêutico , Neoplasias/tratamento farmacológico , Neoplasias/cirurgia , Adulto , Condrossarcoma/tratamento farmacológico , Condrossarcoma/cirurgia , Feminino , Prótese de Quadril , Humanos , Masculino , Pessoa de Meia-Idade , Osteossarcoma/tratamento farmacológico , Osteossarcoma/cirurgia , Desenho de Prótese , Falha de Prótese , Reoperação , Estudos Retrospectivos , Terapia de Salvação
8.
Singapore Med J ; 54(10): e215-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24154592

RESUMO

A 49-year-old man with metastatic melanoma and pathologic fracture of the sternum was deemed to be a poor candidate for general anaesthesia. He suffered severe pain and range of motion limitation that did not respond to narcotic therapy. Ultimately, the lesion was managed with computed tomography-guided cryoablation and subsequent cementoplasty, and saw good initial clinical results.


Assuntos
Cementoplastia/métodos , Criocirurgia/métodos , Fraturas Espontâneas/cirurgia , Esterno/lesões , Seguimentos , Fraturas Espontâneas/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Esterno/diagnóstico por imagem , Esterno/cirurgia , Tomografia Computadorizada por Raios X
9.
J Hand Surg Am ; 38(5): 935-940.e1, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23455409

RESUMO

PURPOSE: Wrist arthrodesis after resection of a giant cell tumor of the distal radius can be performed using a vascularized free fibular transfer (VFFT) or a nonvascularized structural iliac crest transfer (NICT). The purpose of this study was to compare the union times, functional outcomes, and complications after these procedures. METHODS: We identified 27 patients at 2 centers: 14 underwent VFFT, and 13 NICT. The 2 groups were comparable for age, sex, and tumor grade. We assessed functional outcomes of the wrist with the Toronto Extremity Salvage Score, Musculoskeletal Tumor Society 1987 and 1993 scores, and Disabilities of the Arm, Shoulder, and Hand scores. RESULTS: Two local recurrences occurred in the VFFT group and 1 in the NICT group. The VFFT group had 3 patients who had already undergone or were planning to undergo surgery for improved appearance, hardware removal, or tendon release. In the NICT group, 2 infections required debridement, one of which went on to free fibular transfer, but there were no reoperations for nonunion or donor site morbidity. The surgical time was significantly shorter for NICT. Functional scores showed no differences between groups on any of the parameters studied for the upper limb. CONCLUSIONS: Both VFFT and NICT were effective surgical techniques for wrist fusion after distal radial resection for giant cell tumor. Vascularized free fibular transfer should be considered when a major skin defect is anticipated, because it allows the inclusion of a vascularized skin paddle, or when the osseous defect is too long (> 10 cm) for NICT. We were unable to demonstrate a difference in upper limb functional scores between VFFT and NICT. Because the surgical time is significantly shorter and the reoperation rate is lower for NICT, we recommend NICT whenever possible. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic III.


Assuntos
Artrodese/métodos , Neoplasias Ósseas/cirurgia , Transplante Ósseo/métodos , Retalhos de Tecido Biológico , Tumor de Células Gigantes do Osso/cirurgia , Rádio (Anatomia) , Alotransplante de Tecidos Compostos Vascularizados , Articulação do Punho/cirurgia , Neoplasias Ósseas/diagnóstico por imagem , Aloenxertos Compostos , Feminino , Tumor de Células Gigantes do Osso/diagnóstico por imagem , Humanos , Masculino , Radiografia , Resultado do Tratamento
10.
Cardiovasc Intervent Radiol ; 36(2): 531-5, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23070100

RESUMO

PURPOSE: This technical note describes the novel use of a curved, steerable needle to access symptomatic osseous lesions in the pelvis and sacrum for palliative percutaneous treatment that would otherwise be difficult to treat using conventional straight needles. MATERIALS AND METHODS: Seven patients with lytic bone lesions were treated. One patient had multiple myeloma; the remaining had metastatic disease: breast carcinoma (n = 2), colorectal carcinoma (n = 1), renal cell carcinoma (n = 1), squamous cell carcinoma (n = 1), and leiomyosarcoma (n = 1). Five of the seven patients had lesions in the posterior acetabulum, and the two other patients had lesions in the sacrum. Four of the seven patients received radiofrequency ablation followed by cementoplasty; three patients received cementation alone. We used a novel needle designed for vertebroplasty, which has an articulating tip allowing it to be guided into lytic bone lesions located in difficult-to-access regions of the pelvis and sacrum. RESULTS: All patients were successfully treated with cementoplasty either with or without thermal ablation. No serious adverse events were reported. The needle was difficult to withdraw in two patients. CONCLUSION: Steerable curved needles can be successfully used to treat lytic osseous metastases with cementoplasty when lesions are located in sites that may be difficult to reach using conventional straight needles.


Assuntos
Cimentos Ósseos/uso terapêutico , Neoplasias Ósseas/cirurgia , Agulhas , Cuidados Paliativos/métodos , Acetábulo , Neoplasias Ósseas/secundário , Tomografia Computadorizada de Feixe Cônico , Desenho de Equipamento , Fluoroscopia , Humanos , Medição da Dor , Sacro , Resultado do Tratamento
11.
Can Assoc Radiol J ; 63(3 Suppl): S7-10, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22421708

RESUMO

Acetabuloplasty is a valuable palliative adjunct for the treatment of patients with painful metastatic disease to the pelvis in selected cases. We report the case of a 45-year-old woman with morbid obesity and with breast carcinoma who was technically difficult to treat under fluoroscopic guidance due to very poor visualization secondary to her body habitus. It was possible to perform radiofrequency ablation and acetabuloplasty with the use of cone-beam computed tomography for guidance.


Assuntos
Acetábulo/patologia , Acetábulo/cirurgia , Neoplasias Ósseas/secundário , Neoplasias Ósseas/cirurgia , Neoplasias da Mama/patologia , Tomografia Computadorizada de Feixe Cônico , Obesidade Mórbida/complicações , Radiografia Intervencionista/métodos , Acetábulo/diagnóstico por imagem , Neoplasias Ósseas/diagnóstico por imagem , Cementoplastia , Sedação Consciente , Feminino , Fluoroscopia , Humanos , Pessoa de Meia-Idade , Medição da Dor , Qualidade de Vida
13.
Skeletal Radiol ; 40(12): 1531-6, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21442418

RESUMO

OBJECTIVE: Evaluate the efficacy of percutaneous vertebroplasty for severe vertebral body compression fractures. METHODS: Over a period of 6 years and 8 months, 661 vertebroplasties were performed in 292 patients at our institution. Of these, 69 patients met our criteria for a severe vertebral body compression fracture defined as vertebral body collapse to less than one-third of the original height. Of the 69, 25 underwent single level vertebroplasty. Imaging features were then analyzed including location, extent of collapse, pattern of compression, pre- and post-kyphotic angle and adjacent disc height. Complications and clinical outcomes were then evaluated. RESULTS: Involved vertebra ranged from T6 to L5 with 60% at the thoracolumbar junction. Vertebral body collapse ranged from 30 to 14% (mean 22%) of original height. Pattern of collapse included 11/ 25 (44%) plana, 8/25 (32%) gibbus, and 6/25 (24%) H-shaped. Kyphotic angle before vertebroplasty ranged from 33-0° (mean 16°) with an average correction of 1.2° after vertebroplasty. Mean disc height before vertebroplasty was 7.3 mm above and 7.7 mm below. Complications included cement leak to the adjacent disc in 16 (64%) and the paravertebral soft tissues in 3 (12%). Cement leak into the proximal azygous vein was documented in one case. International Quality of Life Questionnaire VAS was completed before and after (6 weeks) the procedure by all but six patients. Mean pre-intervention VAS was reported as 7.00 (range 5-10, SD 1.73) and mean post-intervention VAS was reported as 5.11 (range 0-9, SD 2.56), demonstrating a statistically significant improvement in pain (P < 0.015, 95% CI = 0.83-2.96) with 84% or 16/19 patients reporting some degree of improvement. CONCLUSION: Percutaneous vertebroplasty is safe and effective in the treatment of single level severe vertebral body compression fractures.


Assuntos
Cimentos Ósseos/uso terapêutico , Fraturas por Compressão/terapia , Fraturas da Coluna Vertebral/terapia , Vertebroplastia , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas por Compressão/diagnóstico por imagem , Humanos , Injeções , Masculino , Pessoa de Meia-Idade , Fraturas da Coluna Vertebral/diagnóstico por imagem , Tomografia Computadorizada por Raios X
14.
Spine (Phila Pa 1976) ; 36(10): 830-6, 2011 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-20714276

RESUMO

STUDY DESIGN: Multicenter ambispective cohort analysis. OBJECTIVE: The purpose of this study is to determine whether applying Enneking's principles to surgical management of primary bone tumors of the spine significant decreases local recurrence and/or mortality. SUMMARY OF BACKGROUND DATA: Oncologic management of primary tumors of spine has historically been inconsistent, controversial, and open to individual interpretation. METHODS: A multicenter ambispective cohort analysis from 4 tertiary care spine referral centers was done. Patients were analyzed in 2 cohorts, "Enneking Appropriate" (EA), surgical margin as recommended by Enneking, and "Enneking Inappropriate" (EI), surgical margin not recommended by Enneking. Benign tumors were not included in mortality analysis. RESULTS: Two cohorts represented an analytic dataset with 147 patients, 86 male, average age 46 years (range: 10-83). Median follow-up was 4 (2-7) years in the EA and 6 (5.5-15.5) years in the EI. Seventy-one patients suffered at least 1 local recurrence during the study, 57 of 77 in the EI group and 14 of 70 in the EA group. EI surgical approach caused higher risk of first local recurrence (P < 0.0001). There were 48 deaths in total; 29 in the EI group and 19 in the EA. There was a strong correlation between the first local recurrence and mortality with an odds ratio of 4.69, (P < 0.0001). EI surgical approach resulted in a higher risk of mortality with a hazard ratio of 3.10, (P = 0.0485) compared to EA approach. CONCLUSION: Surgery results in a significant reduction in local recurrence when primary bone tumors of the spine are resected with EA margins. Local recurrence has a high concordance with mortality in resection of these tumors. A significant decrease in mortality occurs when EA surgery is used.


Assuntos
Recidiva Local de Neoplasia/prevenção & controle , Neoplasias da Coluna Vertebral/cirurgia , Coluna Vertebral/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos de Coortes , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Neoplasias da Coluna Vertebral/mortalidade , Neoplasias da Coluna Vertebral/patologia , Coluna Vertebral/patologia , Taxa de Sobrevida , Adulto Jovem
15.
Sarcoma ; 2010: 174528, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20981142

RESUMO

Tenosynovial giant cell tumor is a neoplastic disease of joints that can cause severe morbidity. Recurrences are common following local therapy, and no effective medical therapy currently exists. Recent work has demonstrated that all cases overexpress macrophage colony-stimulating factor (CSF1), usually as a consequence of an activating gene translocation, resulting in an influx of macrophages that form the bulk of the tumor. New anti-CSF1 drugs have been developed; however there are no preclinical models suitable for evaluation of drug benefits in this disease. In this paper, we describe a novel renal subcapsular xenograft model of tenosynovial giant cell tumor. Using this model, we demonstrate that an anti-CSF1 monoclonal antibody significantly inhibits host macrophage infiltration into this tumor. The results from this model support clinical trials of equivalent humanized agents and anti-CSF1R small molecule drugs in cases of tenosynovial giant cell tumor refractory to conventional local therapy.

16.
Mol Cytogenet ; 3: 12, 2010 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-20598147

RESUMO

BACKGROUND: The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features. RESULTS: We report the case of a small blue round cell tumor with an EWS gene rearrangement detected by fluorescent in situ hybridization (FISH) analysis that mimicked Ewing sarcoma, but with unusual histology and immunohistochemical features. Multi-color karyotyping identified the presence of a t(2;22)(q34;q12) that was initially expected to represent a variant EWSR1-FEV translocation. After an extensive workup, the lesion is considered to represent a clear cell sarcoma harboring an EWSR1-CREB1 fusion transcript. CONCLUSIONS: This case appears to represent a rare variant of clear cell sarcoma arising in peripheral soft tissues with unusual histology and unique immunophenotype. In this circumstance, FISH for all EWSR1 translocation partners or RT- PCR for a spectrum of possible transcript variants is critically important for diagnosis, since cytogenetic analysis or clinical FISH assay using only commercial EWSR1 probes will be misleading.

17.
J Vasc Interv Radiol ; 20(7): 903-11, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19481469

RESUMO

PURPOSE: To assess the safety and effectiveness of combined radiofrequency (RF) ablation and cementoplasty in the treatment of painful neoplastic lesions of bone. MATERIALS AND METHODS: The authors performed a retrospective analysis of 25 combined treatments comprising RF ablation followed by injection of polymethylmethacrylate cement performed in 19 patients during a 22-month period. Patients ranged in age from 42 to 82 years (mean, 58.9 years) and included five women and 14 men. Eleven vertebrae (eight lumbar and three thoracic), nine acetabulae, three sacra, one pubis, and one humerus were treated with a total of 36 RF ablations (in several instances, overlapping ablations were used). The location of the primary neoplasm, lesion size, pain before and after the procedure (as determined with a 10-point visual analog scale [VAS]), number of RF treatments, type of device used for cementoplasty, RF time, cement volume, and extravasation were documented. RESULTS: A total of 25 combined RF ablations and cementoplasties were performed. The technical success rate was 100% (25 of 25 treatments). There were seven minor complications: six limited cement extravasations and a transient thermal nerve injury. The mean RF time was 9.1 minutes (range, 6-12 minutes). The mean cement volume injected was 6.1 mL (range, 0.8-16 mL). The mean preprocedure pain (as measured with a VAS) was 7.9 (range, 7.0-9.0) and the mean posttreatment pain was 4.2 (range, 0-6); the difference was statistically significant (mean score, 4.08; 95% confidence interval: 3.92, 4.87; P < .0001) using a paired t test. CONCLUSIONS: Combined RF ablation and cementoplasty appears to be safe and effective in the treatment of painful neoplastic lesions of bone.


Assuntos
Cimentos Ósseos/uso terapêutico , Ablação por Cateter/métodos , Vértebras Lombares/cirurgia , Dor/prevenção & controle , Neoplasias da Coluna Vertebral/terapia , Vértebras Torácicas/cirurgia , Vertebroplastia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Neoplasias da Coluna Vertebral/complicações , Resultado do Tratamento
18.
J Mol Diagn ; 9(4): 459-63, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17620387

RESUMO

Ewing family tumors are molecularly characterized by expression of chimeric transcripts generated by specific chromosomal translocations, most commonly involving fusion of the EWS gene to a member of the ETS family of transcription factors (including FLI1, ERG, ETV1, E1AF, and FEV). Approximately 85% of reported cases of Ewing sarcoma bear an EWS-FLI1 fusion. In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement. We report a case of Ewing sarcoma, presenting as a pathological fracture of the distal clavicle in a 33-year-old male, in which cytogenetic analysis revealed a single t(2;16)(q35;p11) balanced translocation. Fluorescence in situ hybridization using a commercially available diagnostic probe was negative for an EWS gene rearrangement; instead, break-apart fluorescence in situ hybridization probes for FUS and FEV were positive for a translocation involving these genes. Cloning and sequencing of the breakpoint region demonstrated an in-frame fusion of FUS to FEV. In conclusion, this represents the first reported case of Ewing family tumors demonstrating a variant translocation involving FUS and FEV and highlights the need to consider alternative permutations of fusion partners for molecular diagnosis of sarcomas.


Assuntos
Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 2/genética , Proteínas de Fusão Oncogênica/genética , Sarcoma de Ewing/genética , Translocação Genética/genética , Adulto , Sequência de Bases , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Metáfase , Dados de Sequência Molecular , Análise de Sequência com Séries de Oligonucleotídeos , Proteínas de Fusão Oncogênica/química , Sarcoma de Ewing/patologia , Análise de Sequência de DNA
19.
Clin Orthop Relat Res ; 438: 92-6, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16131875

RESUMO

UNLABELLED: Epineural dissection has been used in our center for the past 19 years as a means of preserving the sciatic nerve when it is closely applied to a soft tissue sarcoma. Our aim in doing this study was to establish if this technique resulted in increased local or systemic recurrence of the tumor. In addition, we assessed functional outcomes. Forty-three patients had an epineural dissection done during primary resection of a malignant thigh tumor. These patients were compared with 44 patients with tumors that were of similar size and grade but distant from the nerve. We also analyzed seven patients who required nerve resection. There was no difference in local or systemic recurrence rates or functional outcomes when epineural dissection was done. Those with nerve resection had worse Musculoskeletal Tumor Society scores but equivalent Toronto Extremity Salvage Scores to those with an epineural dissection. We conclude that epineural dissection (when combined with radiotherapy in a planned multidisciplinary approach to limb salvage) is both a safe and effective procedure to preserve the sciatic nerve and that nerve resection should be limited to situations where the nerve is completely encased in tumor. LEVEL OF EVIDENCE: Prognostic study, Level II-2 (retrospective cohort study). See the Guidelines for Authors for a complete description of levels of evidence.


Assuntos
Dissecação/métodos , Salvamento de Membro/métodos , Recidiva Local de Neoplasia/etiologia , Nervo Isquiático/cirurgia , Coxa da Perna/cirurgia , Estudos de Coortes , Terapia Combinada , Intervalo Livre de Doença , Dissecação/efeitos adversos , Medicina Baseada em Evidências , Estudos Retrospectivos , Sarcoma/cirurgia , Neoplasias de Tecidos Moles/cirurgia , Coxa da Perna/inervação
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