18F-fluorodeoxyglucose positron emission tomography findings of peripheral nerve sheath tumour of the nasal cavity in a dog.

An 8-year-old Miniature Poodle presented with chronic sneezing and unilateral epistaxis. A left-sided intranasal mass was identified on computed tomography. 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) was performed to evaluate the metabolic activity of the mass. The intranasal mass showed mildly increased 18F-FDG uptake. The maximal and mean standardized uptake values (SUVs) of the mass were 3.4 and 2.6, respectively. The maximal SUV of the mass/mean SUV of the normal liver was 2.5. The 7-cm soft, pink mass was easily removed through rhinoscopy, with subsequent dramatic improvement in clinical signs. Histopathological and immunohistochemical analyses determined that the mass was an intermediate-grade malignant peripheral nerve sheath tumour (PNST). This is the first report of 18F-FDG PET findings in a PNST in dogs.

Scalp Plexiform Neurofibrosarcoma With Intrathoracic Fibrosarcoma: A Case Report.

Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. It is associated with neurofibromas, gliomas, neurofibrosarcomas, and neuroendocrine and hematopoietic tumors. We present a case of scalp plexiform neurofibromatosis associated with intrathoracic fibrosarcoma. An 18-year-old female presented with a 15-year history of plexiform scalp mass. She had multiple café-au-lait patches on her trunk and extremities and a first-degree relative with a plexiform right shoulder mass. She was managed by a multidisciplinary team of plastic and reconstructive surgeons, neurosurgeons, cardiothoracic surgeons, otorhinolaryngologists, ophthalmologists, pulmonologists, and pathologists. The histology of the excised scalp mass was that of a malignant peripheral nerve sheath tumor (neurofibrosarcoma). She subsequently developed upper chest and back pain with associated breathlessness and was found to have an intra-thoracic tumor. She had two sessions of exploratory right thoracotomy with subtotal excision of an aggressive, highly hemorrhagic, infiltrative mucinous tumor. The histology was a fibrosarcoma. The patient died a few hours following the second thoracotomy. NF1 is associated with several tumors, among which are neurofibrosarcomas. Intra-thoracic fibrosarcoma requires aggressive surgical resection; recurrence may be delayed with radiotherapy and chemotherapy. The prognosis is however poor, and survival beyond one year is unusual. Once one tumor is found, other body systems should be evaluated for the possibility of other tumors.

Peripheral Neural Sheath Breast Sarcoma: Case Report and Literature Review.

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.

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.

Stem-like cells drive NF1-associated MPNST functional heterogeneity and tumor progression.

NF1-associated malignant peripheral nerve sheath tumors (MPNSTs) are the major cause of mortality in neurofibromatosis. MPNSTs arise from benign peripheral nerve plexiform neurofibromas that originate in the embryonic neural crest cell lineage. Using reporter transgenes that label early neural crest lineage cells in multiple NF1 MPNST mouse models, we discover and characterize a rare MPNST cell population with stem-cell-like properties, including quiescence, that is essential for tumor initiation and relapse. Following isolation of these cells, we derive a cancer-stem-cell-specific gene expression signature that includes consensus embryonic neural crest genes and identify Nestin as a marker for the MPNST cell of origin. Combined targeting of cancer stem cells along with antimitotic chemotherapy yields effective tumor inhibition and prolongs survival. Enrichment of the cancer stem cell signature in cognate human tumors supports the generality and relevance of cancer stem cells to MPNST therapy development.

Multiple Primary Cardiac Malignant Peripheral Nerve Sheath Tumors in the Left Atrium: Case Report.

Malignant peripheral nerve sheath tumors are rare sarcomas of the heart. Herein, we report the case of a 24-year-old man who complained of dyspnea, cough, and upper left back pain. He was found to have multiple primary heart tumors obstructing the right superior pulmonary vein in the left atrium, which were diagnosed as malignant peripheral nerve sheath tumors. The patient underwent successful resection of the tumors and immunohistochemistry was utilized for diagnosis.

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.

Elbow flexion reconstruction after arm-sparing excision for high-grade triton sarcoma: a case report.

BACKGROUND: Soft tissue sarcomas affecting the root of an upper extremity raise the question of limb amputation depending on their location, size, and malignancy. Malignant triton tumors are a rare subtype of neurofibrosarcomas that have been poorly reported in the literature. We report the case of a challenging reconstruction of the upper extremity using a pedicled latissimus dorsal flap. CASE PRESENTATION: A 25-year-old Occidental man was referred to our sarcoma unit for the management of a large, high-grade malignant peripheral nerve sheath tumor with no regional or distant extension and very fast progression. He was treated first by concomitant neoadjuvant radiotherapy and chemotherapy. Carcinologic excision was performed "en bloc" including the skin, the tumor, and the flexor muscles of our patient's elbow. Coverage of the skin defect and elbow flexion restoration were achieved by using a homolateral pedicled musculocutaneous latissimus dorsi flap. Histological analysis showed an R0 resection. The reconstruction process recovered a complete bending of his elbow. He is still in remission at 26 months follow-up. CONCLUSIONS: A malignant triton tumor is a rare, aggressive, and high-grade sarcoma. It was successfully treated and this case report describes an effective treatment modality. Reconstructive surgery, allowing large, complete tumor removal, is indispensable after neoadjuvant chemotherapy and radiotherapy.

Malignant transformation in a sciatic plexiform neurofibroma in Neurofibromatosis Type 1 - imaging features that aid diagnosis.

A 41-year-old Asian male with NF1 and bilateral sciatic plexiform neurofibromas, presented with unintentional weight loss, increasing size of a left thigh mass associated with increasing pain and radiculopathy. MRI of the left thigh demonstrated imaging features suspicious of malignant transformation. The patient had a new left lung mass, demonstrating avid FDG uptake, raising suspicion for metastasis. Surgical resection of the left thigh mass confirms malignant transformation in a preexisting sciatic plexiform neurofibroma. Diagnosis of malignant transformation in a nerve sheath tumour can be challenging. MRI remains the main preferred imaging modality in the evaluation of these tumours. Imaging features that raise suspicion for malignant transformation are discussed. Although none of these are specific for malignant transformation, studies suggest that the presence of two to four of these features should prompt further investigations.

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.

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.

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.

An unusual presentation of intraosseous malignant peripheral nerve sheath tumour of mandible.

Malignant peripheral nerve sheath tumour (MPNST) is a rare mesenchymal tumour which usually presents high grade malignancy. We report an atypical case of intraosseous malignant peripheral nerve sheath tumour on mandible in a 36-year-old male. Patient presented with an incidentally discovered radiolucency on the left anterior mandible and did not complain of any symptoms. Panoramic radiograph and computed tomography showed enlargement of inferior alveolar nerve canal, thinning of the cortex and calcified foci within an expansile mass. Magnetic resonance images revealed heterogeneous hyperintense signal intensity with a well-defined margin on T2 weighted images, heterogeneous enhancement on contrast-enhanced T1 weighted images and intermediate signal intensity and inferior alveolar nerve canal enlargement on T1 weighted images. In spite of benign radiologic characteristics as mentioned above, histopathologic examination of biopsied specimen otherwise revealed a low-grade malignancy. Wide excision of mandible was performed and there has been no loco-regional recurrence or distant metastasis over 1 year following surgery. This case indicates that, even when imaging modalities clearly demonstrate benign nature of intraosseous neurogenic tumour, care must be taken to establish proper treatment plan for assumed malignancy with a definitive histopathological analysis.

Tumor cerebral maligno epitelial-mesenquimal de probable origenneuroectodérmico sarcomatoso / Epithelial-mesenchymal malignant brain tumor of probable sarcomatous neuroectodermal origin

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)

NTRK-1 fusion in endocervical fibroblastic malignant peripheral nerve sheath tumor marking eligibility for larotrectinib therapy: A case report.

•<1% of cervical cancers are sarcomas.•Data on neurofibrosarcoma management is scarce.•Larotrectinib is approved for NTRK1 gene fusion tumors without acquired resistance.•Targeted therapy of tumor genes may expand treatment for a rare cervical sarcoma.

Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1.

BACKGROUND: Neurofibromatosis is a genetic disease with an autosomal dominant type of inheritance. It is a multisystem disease in which, besides skin manifestations, there is a possibility for the involvement of other organs and systems, and an atypical variant of neurofibromatosis type 1 can also be observed- the so-called plexiform neurofibroma. In patients with this inherited disease, mortality is higher due to the existing risk for malignant transformation and development of malignant peripheral nerve sheath tumours (MPNSTs) or neurofibrosarcoma. CASE REPORT: We present a 25-year-old woman with neurofibromatosis type 1 and a family history of the disease-father and grandmother with NF-1, with fatal outcome in the grandmother as a result of malignant transformation to neurofibrosarcoma. The patient has clinical data for multiple cafés- au- lait spots on the skin of the trunk, upper and lower limbs, and plexiform tumour formation in the seating area. From the performed imaging diagnostic there are available MRT data for 1) giant pelvic neurofibroma, 2) plexiform giant neurofibroma in the subcutaneous fat on the right thigh and gluteal fat tissue to the right, passing through the midline in the area of the external genitalia, leading to deformation of the front wall of the sacrum with bilateral meningoceles and 3) diffuse involvement of the bladder wall from the process in the area of the trigonum vesicae felleae/the two urethral ostium, as well as 4) the presence of neurofibromas in the course of the iliac vessels on the right. Surgical removal of the oval pelvic formation, identified as neurofibroma was planned, as well as the initiation of systemic therapy with Sirolimus for the plexiform sciatic formation, infiltrating the bladder. CONCLUSION: Neurofibromatosis type-1 is a problematic disease due to the parallel systemic involvement of different organs and systems, which can be both limited and diffuse. Limited tumour lesions in the form of neurofibromas with diverse localisation (as in the patient we describe) could be surgically removed without difficulty. On the other hand, the diffuse involvement of internal organs within a giant, network-3spreading plexiform neurofibromas (as in the described patient) makes interdisciplinary interventions impossible, and therefore therapeutic alternatives should be considered.

Primary malignant schwannoma of the heart.

Primary malignant schwannoma of the heart is an extremely rare disease. We, herein, report a 42-year-old female who underwent successful surgical excision of such a tumor.

Dumbbell malignant dorsal schwannoma embolized and operated by single posterior approach. / Schwannoma maligno dorsal en reloj de arena embolizado e intervenido por abordaje posterior único.

We report a case of a 41 years old patient complaining of chronic dorsalgia. MRI showed a well defined intradural extramedular dumbbell-shaped lesion, associated to a left paravertebral tumor at D5-D6 level. The tumor was embolizated prior to surgery. Following she underwent a D4-D6 laminotomy, left D5-D6 costotransversectomy and resection of the intracanal extradural part of the lesion with section of the left D5 nerve. Posteriorly, complete resection of the extracanal portion of the tumor was performed by a postero-lateral approach. The anatomopathologic diagnosis was a malignant schwannoma. After the surgery, the patient required adyuvant radiotherapic treatment. Malignant schwannoma is a very uncommon tumor which belongs to the malignant peripheral nerve sheath tumors (MPNST). It develops from Schwann cells. It is frequently associated with type 1 neurofibromatosis. MPNST usually present local recurrence and can metastatize.

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.