Tromboembolismo pulmonar como forma de presentación de neurofibrosarcoma cardíaco

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.

Neurofibromatosis 1 asociada a tumor maligno de la vaina del nervio periférico: Un enfoque radiológico / Neurofibromatosis 1 associated to malignant peripheral nerve sheath tumor: A radiological approach

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.

Neurofibrosarcoma of the mandible derived from neurofibromatosis

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.

Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1 / 영남의대학술지

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.

Malignant Peripheral Nerve Sheath Tumour– A Rare Malignancy in Mandible

Malignant peripheral nerve sheath tumour (MPNST) is biologically an aggressive tumour that is usually found in the extremities, trunk and infrequently found in the head and neck area, particularly in the jaws, arising from the cells associated with nerve sheath. MPNST of the mandible is a very uncommon tumour that develops either from a pre-existing neurofibroma orde novo. Because of the greater variability from one case to the next in overall appearance both clinically and histologically, a case of MPNST of the mandible in 25-year-old female patient is reported.

Extracranial neurogenic tumors of the head and neck, / Tumores neurogênicos extracranianos na cabeça e pescoço

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.

A Case of Malignant Peripheral Nerve Sheath Tumor in Parapharyngeal Space / 대한이비인후과학회지

The malignant peripheral nerve sheath tumor is an extremely rare soft tissue sarcoma. It is a highly malignant sarcoma, which is locally invasive, frequently leading to multiple recurrences and eventual metastatic spread. The peak incidence of disease is known to occur sporadically between the age of 20s and 50s, and is usually associated with the neurofibromatosis type I. In human body, the trunk and extremities are the most commonly involved sites, with only 8-14% of all lesions appearing in the head and neck region. We present a case of malignant peripheral nerve sheath tumor involving the right parapharynx in a 48-year-old patient who complained of headaches in the right parietal area and of dysphagia that aggravated over a month. After surgery, tumor was finally diagnosed as malignant peripheral nerve sheath tumor by histopathologic examinations. The authors report a case of malignant peripheral nerve sheath tumor in the right parapharynx with a review of the literature.

Tumor de vaina nerviosa periférica maligno asociado a neurofibromatosis tipo 1: informe de dos casos / Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: report of two clinical cases

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.

Cobertura cutânea pós-ressecção oncológica: a difícil missão de escolher a melhor reconstrução no terço distal da perna / Cutaneous covering after oncologic resection: the difficult task of choosing the best reconstruction in the distal third leg

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)

Malignant Peripheral Nerve Sheath Tumor of Scalp

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are rare neoplasms, usually arising from somatic soft tissues or peripheral nerves. Primary MPNST of the scalp is extremely rare. The case is being reported for its rarity. METHODS: A 53-year-old female was presented with a scalp mass on vertex area. The tumor was localized in scalp skin and did not invade underlying periosteum or skull and treated with complete surgical excision followed by adjuvant chemotherapy and radiotherapy. RESULTS: Histologically, the tumor showed malignant spindle cells with focal S-100 positivity on immunohistochemistry and a diagnosis of MPNST was made. CONCLUSION: Authors experienced a rare case of primary scalp MPNST and report the case.

Neurofibrossarcoma retroperitoneal primário / Primary retroperitoneal neurofibrosarcoma

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.

Two Cases of Neurofibrosarcoma Associated with Multiple Neurofibromatosis / 대한피부과학회지

Two cases of neurofibrossrcoma involving cutaneous tissues of the patients with multiple neurofibromatosis were presented. One case, 49-year-old man, showed highly malignant histopathological feature with lethal outcome and the other case, 56-year-old man, showed less malignant histopathology with good recovery from local excision.