[Hemoperitoneum secondary to a malignant tumor of the sheath of the peripheral nerve in the liver]. / Hemoperitoneo secundario a tumor maligno de la vaina del nervio periférico en hígado.

Malignant peripheral nerve sheath tumors are frequently associated with neurofibromatosis type 1. They are usually located in the extremities or in the axial area. Its visceral location is very rare and its hepatic origin is infrequent. They tend to be aggressive with a poor response to chemotherapy and radiotherapy, so surgical management is the best treatment option. We present the case of a young man with neurofibromatosis type 1, who presented with hemoperitoneum as a complication of a malignant tumor of the peripheral nerve sheath located in the liver.

Sequestered lumbar disc herniation mimicking spinal tumor / Hérnia de disco lombar sequestrada simulando tumor espinhal

The occurrence of herniated disc simulating diseases in neuroimaging it?s an uncommon situation. However, due to changes that occur in sequestered disc fragment, some cases can mimic spinal neoplasms. Thus, we present the case of a female patient, 60 year-old, with left back pain and left leg weakness. Left lower limb presented with strength grade IV, positive 45 degress Lasègue?s signal and patellar areflexia. Lumbar spine magnetic resonance imaging (MRI) showed an expansive left centro-lateral lesion at L4-L5 level, hypointense on T1W, hyperintense on T2W, with peripheral contrast uptake, causing compression of the dural sac and L5 nerve root. A hemilaminectomy was performed, with complete excision of the lesion. Histological analisys confirmed discal hernia. Disc herniation is a condition characterized by the displacement of the disc content to the spinal canal, predominantly in the lumbar region, and manifesting as radiculopathy. The fragment sequestration occurs in 30% of the cases and is characterized by loss of continuity with remaining disc. MRI exams generally allow diagnostic confirmation; however, there may be diagnostic confusion with tumors, arachnoid cysts and abscesses. The inflammatory reaction occurred in the disc fragment produces the differences in MRI signal. The fragment is hypointense on T1W, hyperintense on T2W, with peripheral enhancement after contrast. Malignancies and Schwannomas have homogeneous or heterogeneous uptake. The epidural abscess is isointense on T1W and hyperintense on T2W, with homogeneous or peripheral enhancement, similar to discal herniation. Thus, sequestered disc herniation can mimic other space-occupying lesions, being necessary a surgical approach to obtain material for histopathological analysis and diagnostic confirmation.

A ocorrência de hérnias de disco simulando outras patologias em neuroimagens é incomum. Entretanto, devido às alterações que ocorrem no fragmento discal sequestrado, alguns casos podem mimetizar neoplasias espinais. Assim, apresentamos o caso de uma paciente do sexo feminino, 60 anos, com lombalgia à esquerda e fraqueza na perna esquerda. O membro inferior esquerdo apresentava força grau IV, sinal de Laségue positivo a 45 graus e arreflexia patelar. Ressonância nuclear magnética (RNM) de coluna lombossacra evidenciou lesão expansiva centrolateral esquerda ao nível de L4-L5, hipointensa em T1, hiperintensa em T2, com captação periférica de contraste, determinando compressão do saco dural e raiz de L5. Realizou-se hemilaminectomia com excisão completa da lesão. A análise histológica confirmou hérnia discal. Hérnia de disco é uma patologia caracterizada pelo deslocamento do conteúdo discal para o canal vertebral, predominando na região lombar e manifestando-se como radiculopatia. O sequestro do fragmento ocorre em 30% dos casos e se caracteriza por perda da continuidade com o disco remanescente. Exames de RNM geralmente permitem a confirmação diagnóstica, entretanto, pode haver confusão diagnóstica com tumores, cistos aracnóideos e abscessos. A reação inflamatória ocorrida no fragmento discal produz as diferenças de sinal na RNM. O fragmento é hipointenso em T1, hiperintenso em T2, apresentando realce periférico após contraste. Neoplasias malignas e Schwannomas apresentam captação homogênea ou heterogênea. Os abscessos epidurais podem apresentar realce homogêneo ou periférico, semelhante às hérnias discais. Assim, hérnias de disco sequestradas podem mimetizar outras lesões ocupando espaço, sendo necessária abordagem cirúrgica com obtenção de material para análise histopatológica para confirmar o diagnóstico.

Malignant peripheral nerve sheath tumor as a cause of chronic cardiac insufficiency in cattle.

Chronic cardiac insufficiency was associated with a malignant peripheral nerve sheath tumor in a cow. An eight-year-old cow developed a progressive condition (over a period of three months) characterized by an enhanced abdominal volume, reluctance to move, a positive jugular pulse, watery diarrhea and death. At necropsy, moderate subcutaneous edema and an enhanced hepatic lobular pattern were observed. A 23x20x11 cm firm, grayish-white mass adhered to and infiltrated the right atrium. Multiple firm, yellowish-white nodules of 0.5 to 12 cm in diameter were diffusely scattered in the epicardium and parietal pericardium. Histologically, the tumor was poorly circumscribed with foci of infiltration of the myocardium. The neoplastic cells had two major histologic patterns, Antoni types A and B. Within occasional foci, pleomorphic cells with an epithelioid appearance were present in addition to multinucleated cells with periodic acid Schiff (PAS)-positive cytoplasmic globules. Foci of cartilaginous and granular differentiations were interspersed among the neoplastic cells. Multiple vessels presented wall hyalinization and tumoral embolus. Large necrotic foci with mineralization and cholesterol clefts were also observed. Immunohistochemically, the tumor was positive for S100 protein, vimentin and neuron-specific enolase labeling.

Giant malignant peripheral nerve sheath tumor of the scalp.

PURPOSE: Malignant peripheral nerve sheath tumors (MPNST) constitute a group of soft tissue neoplasms with neurogenic origin. Association of MPNST with neurofibromatosis type 1 (NF1) has been frequently reported as a result of malignant transformation of a pre-existing plexiform neurofibroma. However, most of the cases are small and few have been described with giant dimensions. We describe a case of a giant MPNST in an unusual location (scalp), in a NF1 patient. CASE REPORT: A fifty-six years old woman with a history of NF1 since childhood was admitted due to a rapid growing of a scalp tumor in occipital region. The mass had 15 cm in the largest dimension and a central ulceration with purulent secretion. Computed tomography revealed no bone invasion. The tumor was surgically removed and the histopathological examination revealed a neurofibrosarcoma. The patient had a good post operatory evolution and notwithstanding the tumor size, no metastasis was found and she was discharged to oncologic follow-up. CONCLUSION: Given the poor prognosis of MPNST, patients with NF1 should be aware that neurofibromas can undergo malignant transformation and report signs such as rapid growth of a pre-existing lesion.

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant café-au-lait in NF1. The patient showed >6 café-au-lait spots on the body, axillary freckling, and multiple subcutaneous neurofibromas. He also had a malignant peripheral nerve sheath tumor and bone abnormalities. The germline mutational analysis of the NF1 gene revealed a novel missense mutation in exon 13. It is a novel heterozygous nucleotide G>A transition at position 2241 of the NF1 gene. We found no mutation in malignant peripheral nerve sheath tumor DNA from this patient. This expands the database for NF1 gene mutations in NF1. Its absence in the normal chromosomes suggests that it is responsible for the NF1 phenotype. To our knowledge, this is the first case of giant café-au-lait macule in NF1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

OBJECTIVE: To characterize morbidity, mortality, and surgical outcomes in pediatric patients with symptomatic plexiform neurofibromas (PNFs). STUDY DESIGN: We conducted retrospective analysis of data from clinical records of surgical history and other neurofibromatosis type 1 (NF1)-related complications in children with PNFs seen at Cincinnati Children's Hospital Medical Center between 1997 and 2007. RESULTS: A total of 154 children with NF1 and PNFs were identified. Children with symptomatic PNFs had increased incidence of other NF1-related tumors (P < .05). Patients with NF1 and PNFs had a higher mortality rate (5/154, 3.2%) when compared with patients without or with asymptomatic PNFs (2/366, 0.5%; P = .024). The most common morbidities leading to surgeries were neurologic, disfigurement, orthopedic, and airway complaints. Less extensive resection predicted a shorter interval to second surgery (P < .0019). The highest recurrence was seen in tumors located in the head, neck, and thorax (P < .001). CONCLUSIONS: These findings quantify the increased risk for additional tumors and mortality associated with symptomatic PNFs. Surgical interventions were required in many cases and resulted in added morbidity in some cases. Patients with PNFs were more likely to benefit from surgery when the indications were airway compression or disfigurement.

[A 33 year old woman with a six-year history of slight thoracic-abdominal pain]. / Mujer de 33 años de edad con leve dolor toracoabdominal derecho de seis años de evolución, súbitamente agudizado.

We present a case of a benign hybrid nerve sheath tumor showing features of both cellular schwannoma and perineurioma.The patient was a 33 year-old female who presented with a 6 month history of pain in the thorax-lumbar region.Axial CT and MIR images showed and homogeneously enhancing solid oval mass involving the left paravertebra region in contact with the vertebral foramina T9-T11. Morphologically the tumor presented a well formed capsule and showed a uniform highly spindle cell proliferation. The spindle cells were arranged in whorls and intersecting fascicles with focal intervening sclerosis and relatively uniform cellularity with a prominent perivascular lymphocytic infiltrate. No cytological atypia, necrosis or mitoses were present. A second cell component was present composed of spindle-shaped cells with inconspicuous bipolar, pale, eosinophilic cytoplasm with oval nuclei. By immunohistochemistry there was a diffuse staining for S-100, and the elongated bipolar cells were EMA, Glut-1 and Claudin-1. To our knowledge this is the first reported case of a hybrid cellular schwannoma/perineurioma.

Ileal perineurioma as a cause of intussusception.

CONTEXT: Perineuriomas are rare tumors composed of cells resembling those of the normal perineurium. It usually occurs in subcutaneous, soft-tissue or intraneural locations. Very few reports in the literature have described perineuriomas in the gastrointestinal tract, including the stomach, colon and jejunum. CASE REPORT: We report the clinicopathological and immunohistochemical features of a case of ileal perineurioma that was manifested clinically as intestinal obstruction due to intussusception. Ileal perineurioma has not previously been reported at this anatomical location.

Tumor maligno de la vaina del nervio periférico del mediastino en un paciente con neurofibromatosis tipo 1 / Mediastinal malignant peripheral nerve sheath tumor in a neurofibromatosis type 1 patient

El tumor maligno de la vaina del nervio periférico (TMVNP), es una neoplasia maligna originada en las células de Schwan de la vaina de revestimiento del nervio periférico. Describir el caso de un hombre con neurofibromatosis tipo 1 (NF1), quién presentó un TMVNP de bajo grado, y realizar una discusión sobre esta enfermedad. Hombre de 28 años, con antecedente de NF1 diagnosticada a los 15 años de edad, con dolor pleurítico izquierdo, disnea y pérdida de peso de 10 meses de evolución. Al examen de tórax, se observó marcada hipercifosis dorsal con disminución del murmullo pulmonar. La radiografía de tórax y tomografía axial computarizada (TAC), evidenciaron gran masa radioopaca bien delimitada en mediastino posterior. Por lo anterior, se realizo biopsia por punción con aguja gruesa guiada por TAC, en la cual se identificó una neoplasia maligna mesenquimal. Se decidió realizar resección del tumor a través de toracotomía posterolateral, en la que se obtuvo gran masa de 8x9x9 cm, de superficie externa irregular, pardo-violácea y consistencia firme. El estudio histopatologico e inmunofenotípico concluyo el diagnóstico de TMVNP en mediastino posterior Grado 1. Posterior a la cirugía, el paciente se encuentra asintomático. Se presentó un caso de TMVNP originado en un paciente con NF1, presentación que generalmente cursa con peor pronóstico, además se realizo una breve revisión de los aspectos más relevantes de esta enfermedad, algunos de los cuales han tenido un avance vertiginoso en años recientes.

The malignant peripheral nerve sheath tumor (MPNST) is a malignant neoplasm originated in the Schwan cells of the periferic nerves sheath. We describe a case of a man with Neurofibroatosis Type 1 (NF1), who developed a low grade MPNST, and subsequent to a discussion of this disease. 28-year-old Man with pleuritic pain in the left hemithorax, dyspnea and weight loss, with a previous diagnosis of NF1, from the age of 15 and a family history of NF1. At chest examination the patient had an intense thoracic kyphosis, with a decline in the ventilation of the inferior two thirds of the left hemithorax, where a dull sound to percusión was also found. The chest X rays showed a large radiopaque and well delimited mass in the posterior mediastinum, that pushed the cardiovascular structures to the anterior region, which was also documented by chest computed tomography (CT). In view of the above, a puncture biopsy was performed with thick needle guided by CT, from where a malignant mesenhymal neoplasm was identified. It was decided to perform the resection of the tumor of the left posterior mediastinum, by left posterior lateral thoracotomy, in which a large mass of 8x9x9 cm was obtanied, with irregular external surface, brown-violet, and firm. The histopathological and inmunophenotypic study concluded the diagnosis of MPNST in the posterior mediastinum grade 1. Following surgery the patient was asymptomatic. We present a case of MPNST which originated in a patient with NF1, who would usually have a worse prognosis. A brief review of the more relevant aspects of this disease was also reported, some of which have shown important progress in recent years.

Ileal perineurioma as a cause of intussusception / Perineurioma ileal como uma causa de intussuscepção

CONTEXT: Perineuriomas are rare tumors composed of cells resembling those of the normal perineurium. It usually occurs in subcutaneous, soft-tissue or intraneural locations. Very few reports in the literature have described perineuriomas in the gastrointestinal tract, including the stomach, colon and jejunum. CASE REPORT: We report the clinicopathological and immunohistochemical features of a case of ileal perineurioma that was manifested clinically as intestinal obstruction due to intussusception. Ileal perineurioma has not previously been reported at this anatomical location.

CONTEXTO: Perineurioma é uma rara neoplasia composta de células que lembram aquelas do perineuro normal e geralmente ocorre no subcutâneo, tecidos moles ou em localização intraneural. Poucos relatos na literatura descrevem perineuriomas no trato gastrointestinal incluindo estômago, cólon e jejuno. RELATO DE CASO: Os autores apresentam as características clinicopatológicas e imunoistoquímicas de um caso de perineurioma ileal apresentando-se clinicamente por obstrução intestinal decorrente de intussuscepção. Perineurioma ileal não havia sido descrito até o momento nessa localização anatômica.

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: report of two clinical cases.

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.

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.

Optociliary veins in optic nerve sheath meningioma. Indocyanine green videoangiography findings.

OBJECTIVE: To report the indocyanine green videoangiography (ICG-V) characteristics of optociliary veins (OV) in optic nerve sheath meningioma (ONSM). DESIGN: Case series. PARTICIPANTS: Four eyes (patients) with OV and ONSM were examined. INTERVENTION: Indocyanine green videoangiography and intravenous fluorescein angiography (IVFA) were prospectively performed. MAIN OUTCOME MEASURES: The course of OV in ONSM cases was observed with ICG-V and IVFA. RESULTS: On ICG-V, the course of OV was followed from their origin at small tributaries of the central retinal vein, their junction with choroidal veins, and finally to their drainage in the vortex venous system. The authors found an inverse relationship between the degree of optic disc edema and the development and ease of visualization of the optociliary veins and their draining course through the choroidal circulation. The mean time from the injection of indocyanine green to the visualization of OV's draining choroidal vessels was 35.4 seconds (range, 25.4-50 seconds). Intravenous fluorescein angiography allowed visualization of OV only at the margins of the optic disc in all cases. CONCLUSION: Indocyanine green videoangiography provides important and new information in cases with OV and ONSM that is not obtained with IVFA. Such information may provide important knowledge regarding the hemodynamics of the choroidal circulation in normal and pathologic states.