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Primary sarcomas of the breast are heterogeneous neoplasms derived from the non-epithelial elements of the mammary gland. Malignant peripheral nerve sheath tumors comprise 5-10% of all malignant soft tissue sarcomas. Its heterogeneity and low incidence (1 in 100,000) limit the performance of prospective studies. Therefore, most published articles include individual reports and case series with a small number of patients, making it impossible to determine clear treatment standards in this scenario. A 36-year-old young woman with no personal history consulted the National Cancer Institute of Colombia with a 1-year progression of a rapidly growing mass in her left breast until reaching an approximate tumor size of 20 × 20 cm. Histopathological analysis with a tru-cut biopsy taken from the lesion revealed the presence of a breast sarcoma with positive staining for SOX-10 and S-100. A radical mastectomy as her first treatment included the resection of a costal arch and, therefore, the reconstruction of the chest wall with coverage of the defect with an extended latissimus dorsi flap followed by consolidation therapy with adjuvant radiotherapy (RT) and chemotherapy. Evidence regarding malignant peripheral nerve sheath sarcoma of the breast treatment corresponds to retrospective analyses and case reports with high heterogeneity and variability about strategies in surgical procedures and adjunctive therapy such as complementary chemotherapy and RT; therapeutic approach should always include a multidisciplinary team.
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RESUMEN Los tumores cardíacos pueden provocar síncope, falla cardíaca, fenómenos embólicos y muerte. Se requiere un elevado índice de sospecha debido a la similitud clínica con otras enfermedades sistémicas. Se describe el caso de una mujer de 26 años que empezó con dificultad respiratoria, tos, expectoración hemoptoica, hipotensión arterial y manifestaciones de insuficiencia cardíaca a predominio derecho. La ecocardiografía mostró una masa tumoral en aurícula derecha y múltiples imágenes de trombos a nivel del tronco de la arteria pulmonar, con signos de disfunción ventricular derecha e hipertensión pulmonar grave. Fue intervenida quirúrgicamente, pero el tumor era irresecable, pues infiltraba el pericardio y la vena cava inferior. La paciente falleció un día después de la operación. El estudio histológico confirmó que el tumor era un neurofibrosarcoma.
ABSTRACT Cardiac tumors can cause syncope, heart failure, embolic events, and death. A high index of suspicion is required due to the clinical similarity with other systemic diseases. Here is described the case of a 26-year-old woman who began with respiratory distress, cough, hemoptoic expectoration, low blood pressure and manifestations of heart failure predominantly on the right. The echocardiography showed a tumor mass in the right atrium and multiple images of thrombi at the level of the pulmonary artery trunk, with signs of right ventricular dysfunction and severe pulmonary hypertension. She underwent surgery, but the tumor was unresectable, as it infiltrated the pericardium and the inferior vena cava. The patient died one day after surgery. The histological study confirmed that the tumor was a neurofibrosarcoma.
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Introducción: La neurofibromatosis (NF) se caracteriza por ser una anormalidad ectodérmica con formación de múltiples neurofibromas en todo el cuerpo. La forma más frecuente es la NF1, que se presenta con manifestaciones variables. El tumor maligno de la vaina del nervio periférico (TMVNP) es una de las formaciones tumorales que se puede ver en el contexto de esta patología. El papel de la radiología es el de caracterizar la lesión y su invasión, así como el de valorar la presencia de otras lesiones tumorales. Caso clínico: Paciente adulto, masculino, portador de Neurofibromatosis tipo I y hemorroides, acudió por hemorragia digestiva por lo que se realizó una endoscopía donde se encontró una lesión estenosante prepilórica. Se solicitó un barrido tomográfico donde se identificaron lesiones de aspecto benigno en hígado, ambas suprarrenales y una lesión tumoral de aspecto maligno en la parrilla costal izquierda. Discusión: Un avezado conocimiento de la patología con los hallazgos radiológicos que se suelen observar en estos pacientes, son de suma importancia para que el médico radiólogo pueda conocer la localización de las lesiones, tanto las clásicas como las no habituales, y orientar entre una lesión de carácter benigno con otras de carácter maligno.
Introduction: Introduction: Neurofibromatosis (NF) is characterized by ectodermal abnormality with the presence of multiple neurofibromas throughout the body. The most common form is NF1, which occurs with variable manifestations. Malignant neurilemmoma or peripheral nerve sheath malignant tumor (PNSMT) is one of the tumor formations that can be seen in the context of this pathology. The role of radiology is to characterize the injury and its invasion, as well as to assess the presence of other tumor lesions. Case report: Adult male patient, carrier of Neurofibromatosis type I and hemorrhoids, presented with digestive hemorrhage, so an endoscopy was performed where a prepyloric stenosing lesion was found. A tomographic scan was requested where benign-looking lesions were identified in the liver, both adrenal glands, also a malignant-looking tumor lesion on the left rib cage. Conclusion: An experienced knowledge of the pathology with the radiological findings that are usually observed in these patients are of utmost importance so that the radiologist can know the location of the lesions, both classic and unusual, and orient between a character injury benign with others of malignant character.
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Neurofibromatosis 1/diagnóstico por imagen , Patología , Nervios PeriféricosRESUMEN
Neurofibrosarcoma is a rare malignant neoplasm of the head and neck region and accounts for 8% to 16% of all cases. Its origin is varied and may stem from cells of the peripheral nerves, develop de novo, or result from malignant transformation of preexisting neurofibromas. Because the features of neurofibrosarcomas are heterogeneous, the data retrieved during clinical examinations are of great aid for diagnosis. In this case, owing to clinical features and the fact that the patient had neurofibromatosis type 1, the hypothesis of neurofibrosarcoma was promptly established. The final diagnosis was confirmed by associating clinical, imaging, and pathological data. After the treatment, the patient has been followed up for 10 years, with no evidence of recurrence.
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Humanos , Femenino , Adolescente , Neoplasias de la Boca/etiología , Neurofibromatosis 1/complicaciones , Neurofibrosarcoma/diagnóstico , Reconstrucción Mandibular , NeurilemomaRESUMEN
Neurofibrosarcoma is a rare malignant neoplasm of the head and neck region and accounts for 8% to 16% of all cases. Its origin is varied and may stem from cells of the peripheral nerves, develop de novo, or result from malignant transformation of preexisting neurofibromas. Because the features of neurofibrosarcomas are heterogeneous, the data retrieved during clinical examinations are of great aid for diagnosis. In this case, owing to clinical features and the fact that the patient had neurofibromatosis type 1, the hypothesis of neurofibrosarcoma was promptly established. The final diagnosis was confirmed by associating clinical, imaging, and pathological data. After the treatment, the patient has been followed up for 10 years, with no evidence of recurrence.
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Objetivo: Describir el tratamiento dado y la evolución de un paciente con un tumor sarcomatosoprimario de encéfalo.Caso clínico: Se presenta una paciente de cinco años de edad, con un cuadro clínico de un mes deevolución de tortícolis y vómitos ocasionales. Al examen físico se constató papiledema bilateral enel fondo de ojo. Por tomografía computarizada se pudo diagnosticar un proceso expansivo intracranealfrontal derecho. Se realizó tratamiento quirúrgico con exéresis macroscópica total de la lesión, queanatomopatológicamente fue compatible con un meningioma fibroblástico. A los tres meses presentó recidiva tumoral, por lo que se volvió a intervenir neuroquirúrgicamente. Esta vez el diagnósticohistopatológico fue compatible con un sarcoma fibromixoide de bajo grado. Los estudios de inmunohistoquímica demostraron compatibilidad con un tumor maligno de encéfalo con patrónmixto epitelial y mesenquimal de probable origen neuroectodérmico sarcomatoso. La paciente tuvo 32 sesiones de tratamiento con radioterapia (dosis diaria de 1,8 Gy). Falleció pasados los cinco meses de la segunda cirugía.Conclusiones: El tumor maligno con patrón mixto epitelial y mesenquimal de probable origenneuroectodérmico sarcomatoso del encéfalo es una enfermedad con un comportamiento agresivo. Su localización intracraneal es excepcional. No se hallaron casos reportados en la literatura(AU)
Objective: To describe treatment and evolution of a patient with a primary sarcomatous tumor of the brain.Clinical case: A 5-year-old patient is reported with a month-long clinical condition of torticollis andoccasional vomiting. Physical examination revealed bilateral papilledema in the fundus. A right frontal intracranial expansive process was diagnosed by computed tomography. Surgical treatment was performed with total macroscopic excision of the lesion, which was anatomopathologically compatible with a fibroblastic meningioma. After three months he presented with tumor recurrence, which led to intervene neurosurgically. This time the histopathological diagnosis was compatible with a low-grade fibromyxoid sarcoma. Immunohistochemical studies showed compatibility with a malignant brain tumorwith a mixed epithelial and mesenchymal pattern of probable neuroectodermal sarcomatous origin. Thepatient had 32 sessions of radiotherapy treatment (daily dose of 1.8 Gy). This patient passed away afterfive months of the second surgery.Conclusions: The malignant tumor with mixed epithelial and mesenchymal pattern of probable neuroectodermal origin sarcomatous brain is a disease with aggressive behavior. Its intracranial locationis exceptional. No cases reported in literature were found(AU)
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Humanos , Femenino , Preescolar , Carcinosarcoma/complicaciones , Carcinosarcoma/diagnóstico , Carcinosarcoma/cirugía , Neurofibrosarcoma/complicaciones , Neurofibrosarcoma/diagnóstico , Neurofibrosarcoma/cirugía , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/tratamiento farmacológico , Antiinfecciosos/administración & dosificación , Antiinfecciosos/uso terapéutico , Inmunohistoquímica , Resultado FatalRESUMEN
Background: Spirocercosis is a parasitic infection caused by Spirocerca lupi. This pathology affects canid carnivores, especially domestic dogs. Early diagnosis has been proven challenging and most infected animals are diagnosed when disease is in advanced stage. Exams such as computed tomography scans or radiographs can aid in disease confirmation. Radiographic exam frequently reveals the presence of a mass located in mediastinal region, which can be erroneously diagnosed as pulmonary mass. The aim of this study was to report the differential diagnosis between paraesophageal granuloma, possibly due to spirocercosis, and pulmonary metastasis in a dog with a history of neurofibrosarcoma.Case: A 8 year-old male Cocker Spaniel dog, weighing 17.4 kg, was presented with anterior limb suspension and a recurrent nodule of 2.0 cm diameter, located on the main pad, with previous diagnosis of neurofibrosarcoma (malignant Schwannoma). Routine evaluation work-up included thoracic radiographs and abdominal ultrasound for clinical staging, electrocardiogram, complete blood count (CBC), coagulogram, renal and hepatic function tests, with results within the normal range for the species. The dog submitted to left anterior limb amputation due to recurrent neurofibrosarcoma in the carpal region. Histopathological exam confirmed recurrent neurofibrosarcoma without vascular invasion. Considering neoplasm biological behavior and clean surgical margins, only routine follow-up was established, with clinical exams. The dogwas presented to the Veterinary Hospital five months after surgical treatment and it was presented with fever, prostration, and history of vomiting. Radiographic exam showed a circumscribed mass in caudal mediastinal area. Computed tomography scan was performed to best evaluate the mass and the result was compatible with paraesophageal abscess.[...]
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Masculino , Animales , Perros , Esófago , Granuloma/diagnóstico por imagen , Infecciones por Spirurida/veterinaria , Metástasis de la Neoplasia , Neurofibrosarcoma/diagnóstico por imagen , Thelazioidea , Enfermedades Parasitarias en Animales/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagenRESUMEN
Background: Spirocercosis is a parasitic infection caused by Spirocerca lupi. This pathology affects canid carnivores, especially domestic dogs. Early diagnosis has been proven challenging and most infected animals are diagnosed when disease is in advanced stage. Exams such as computed tomography scans or radiographs can aid in disease confirmation. Radiographic exam frequently reveals the presence of a mass located in mediastinal region, which can be erroneously diagnosed as pulmonary mass. The aim of this study was to report the differential diagnosis between paraesophageal granuloma, possibly due to spirocercosis, and pulmonary metastasis in a dog with a history of neurofibrosarcoma.Case: A 8 year-old male Cocker Spaniel dog, weighing 17.4 kg, was presented with anterior limb suspension and a recurrent nodule of 2.0 cm diameter, located on the main pad, with previous diagnosis of neurofibrosarcoma (malignant Schwannoma). Routine evaluation work-up included thoracic radiographs and abdominal ultrasound for clinical staging, electrocardiogram, complete blood count (CBC), coagulogram, renal and hepatic function tests, with results within the normal range for the species. The dog submitted to left anterior limb amputation due to recurrent neurofibrosarcoma in the carpal region. Histopathological exam confirmed recurrent neurofibrosarcoma without vascular invasion. Considering neoplasm biological behavior and clean surgical margins, only routine follow-up was established, with clinical exams. The dogwas presented to the Veterinary Hospital five months after surgical treatment and it was presented with fever, prostration, and history of vomiting. Radiographic exam showed a circumscribed mass in caudal mediastinal area. Computed tomography scan was performed to best evaluate the mass and the result was compatible with paraesophageal abscess.[...](AU)
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Animales , Masculino , Perros , Granuloma/diagnóstico por imagen , Esófago , Metástasis de la Neoplasia , Thelazioidea , Infecciones por Spirurida/veterinaria , Neurofibrosarcoma/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen , Enfermedades Parasitarias en Animales/diagnóstico por imagenRESUMEN
ABSTRACT INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis. OBJECTIVE: To report the experience of a tertiary care department. METHODS: Forty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study. RESULTS: The mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5 cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin. CONCLUSIONS: Extracranial neurogenic tumors presented with a mean size of 5.5 cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.
Resumo INTRODUÇÃO: Tumores dos nervos periféricos tipicamente derivam das células de Schwann da bainha dos nervos periféricos. Por serem incomuns, devem ser lembrados no diagnóstico diferencial pré-operatório. OBJETIVO: Relatar a experiência de serviço de referencia terciária. MÉTODO: De 1977 a 2013, 42 pacientes com tumores neurogênicos periféricos da cabeça e pescoço foram operados e analisados retrospectivamente. A confirmação diagnóstica pré-operatória deu-se por biópsia ou método de imagem. RESULTADOS: A média da idade foi de 41,7 anos, sendo 15 indivíduos (36%) do gênero masculino. O tamanho médio foi de 5,5 cm e 26 (61%) localizavam-se na face lateral do pescoço. A maior parte (39,9%) apresentou-se como tumor palpável assintomático. A maioria (39,9%) foi ressecadapor acesso cervical. A maioria originou-se de nervos cranianos. CONCLUSÕES: Tumores neurogênicos extracranianos apresentam-se com tamanho médio de 5,5 cm, na face lateral do pescoço, costumam originar-se de nervos cranianos e ser ressecados por via cervical.
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Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Neoplasias de los Nervios Craneales/diagnóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Biopsia , Neurilemoma/diagnóstico , Neurofibroma/diagnóstico , Neurofibromatosis/diagnóstico , Neurofibrosarcoma/diagnóstico , Estudios Retrospectivos , Atención Terciaria de Salud , Tomografía Computarizada por Rayos XRESUMEN
INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis. OBJECTIVE: To report the experience of a tertiary care department. METHODS: Forty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study. RESULTS: The mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin. CONCLUSIONS: Extracranial neurogenic tumors presented with a mean size of 5.5cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.
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Neoplasias de los Nervios Craneales/diagnóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Adolescente , Adulto , Anciano , Biopsia , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurilemoma/diagnóstico , Neurofibroma/diagnóstico , Neurofibromatosis/diagnóstico , Neurofibrosarcoma/diagnóstico , Estudios Retrospectivos , Atención Terciaria de Salud , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
Introducción: El tumor de vaina nerviosa periférica maligno (TVNPM) es un sarcoma de alto grado de malignidad, originado de componentes de las vainas nerviosas, fibroblastos, células perineurales y células de Schwann, que se asocia a neurofibromatosis tipo 1 con un riesgo de 10 a 13 %. Casos clínicos: Se presentan dos casos de TVNPM asociado a neurofibromatosis tipo 1. El primero presentó dolor moderado sin causa aparente, además de lesión intrarraquídea en resonancia magnética nuclear, manejada quirúrgicamente en dos ocasiones. Histológicamente correspondió a lesión neurofibromatosa en transición con neoplasia maligna. El segundo se manifestó con cifoescoliosis torácica, dolor y aumento de volumen. Asociado a la deformidad, la resonancia magnética mostró tumor en la región torácica posterior (T1 a T8), que fue resecado; se identificó neoplasia sarcomatosa infiltrante, muy celular, con inmunopositividad para proteína S100 y vimentina. Conclusiones: Los TNVPM son sarcomas con alto índice de recurrencia, capaces de producir metástasis a distancia desde etapas tempranas. A pesar de la resección amplia, los pacientes descritos no sobrevivieron dado el avance y tamaño de las lesiones. Por el crecimiento progresivo de los TNVPM y la dificultad anatómica para su abordaje, deberá tenerse un control estrecho de los pacientes con neurofibromatosis tipo 1 a fin de identificar tempranamente la transformación maligna de las lesiones.
BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a sarcoma with a high grade of malignancy originating in the nerve sheath components, fibroblasts, perineural cells, and Schwann cells. It is associated with neurofibromatosis type 1 (NF-1) with a risk of 10-13%. CLINICAL CASES: We present two cases of NF-1-associated MPNST. The first patient presented moderate pain with no apparent cause, in addition to the presence of intraspinal lesion demonstrated by nuclear magnetic resonance imaging (NMRI), which was managed surgically on two occasions. Histologically, it corresponded to a neurofibromatosis lesion in transition with malignant neoplasm. The second case manifested with thoracic kyphoscoliosis, pain, and an increase in volume. Associated with the deformity, MRI showed a withering tumor in the posterior thoracic region (T1-T8), observing an infiltrating, cellular sarcomatous neoplasm with immunopositivity for S-100 protein and vimentin. CONCLUSIONS: MPNSTs are sarcomas with a high index of recurrence with the ability to produce distant metastasis during early stages. Despite wide resection, patients did not survive due to the advancement and size of the lesions (determining factors in the prognosis). Due to the progressive growth of MPNST and the anatomic difficulty for its approach, there should be strict surveillance of patients with NF-1 for early detection of malignant transformation in these lesions.
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Humanos , Masculino , Femenino , Adulto , Vértebras Cervicales , Neoplasias de la Vaina del Nervio/genética , Neoplasias de la Columna Vertebral/genética , Neurofibromatosis 1/patología , Vértebras Torácicas , Cifosis/etiología , Escoliosis/etiología , Resultado Fatal , Laminectomía , Imagen por Resonancia Magnética , Biomarcadores de Tumor/análisis , Neoplasias de la Vaina del Nervio/química , Neoplasias de la Vaina del Nervio/complicaciones , Neoplasias de la Vaina del Nervio/cirugía , Neoplasias de la Columna Vertebral/química , Neoplasias de la Columna Vertebral/complicaciones , Neoplasias de la Columna Vertebral/cirugía , /análisis , Recurrencia Local de Neoplasia/radioterapia , Raíces Nerviosas Espinales , Síndromes de Compresión Nerviosa/etiología , Vimentina/análisis , Adulto JovenRESUMEN
O objetivo deste trabalho é discutir as várias opções terapêuticas para as perdas de substâncias do terço distal da perna, com destaque para o retalho desepidermizado. Para ilustrar, apresentamos o caso de um paciente com perda de substância extensa no terço distal anterior da perna após ressecção de sarcoma da bainha de nervo periférico. Esta é uma área de difícil reconstrução devido à escassez de zonas doadoras regionais, pelo qual o retalho desepidermizado aparece como uma excelente opção na medida em que promove total cobertura do defeito sem prejuízos estéticos ou funcionais maiores à área doadora (AU)
This work discusses the various therapeutic options for the losses of substances in the distal third of the leg, highlighting the de-epithelialized flap. To illustrate, we present the case of a patient with extensive loss of substance in the distal third of the leg after resection of peripheral nerve sheath sarcoma. Reconstruction in this area is difficult due to the scarcity of regional donor zones, for which the de-epithelialized flap appears as an excellent option as it promotes total covering of the defect with no major aesthetic or functional impairments to the donor area (AU)
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Humanos , Masculino , Adolescente , Colgajos Quirúrgicos , Procedimientos de Cirugía Plástica/métodos , Traumatismos de la Pierna/cirugíaRESUMEN
Malignant schwannoma or neurofibrosarcoma usually grows from the peripheral nerves and rarely from the retroperitoneum. When found in the retroperitoneum, it usually has a worse prognosis. This kind of tumor seems to be resistant to adjuvant therapy and the best treatment is radical surgery. We report a case of a primary retroperitoneal malignant schwannoma, in a 64 year-old man, treated surgically.