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Lipofibromatosis-like neural tumors (LPF-NT) are soft tissue tumors characterized by a lipofibromatosis-like pattern, CD34/PS100 positivity, and recurrent NTRK1 gene rearrangement. It occurs mainly in pediatric patients or young adults. We report here, the first case of LPF-NT in a middle-aged adult initially misdiagnosed as a myoepithelial tumor. LPF-NT may have a locally aggressive course but no recurrence was seen after complete surgeries, whereas metastatic diseases remain exceptional.

Neurofibromas are benign tumors with neural origin, most frequently found in neurofibromatosis. However, they can also occur as isolated lesions, which are extremely rare in the larynx. We present a case of a 56 years old patient who presented with complains of odynophagia, hoarseness, dysphagia and dyspnea. On otolaryngologic observation it was found a large pharyngolaryngeal mass compressing the airway, which led to perform a tracheotomy. The patient was submitted to surgical resection of the tumor and it was diagnosed with a solitary laryngeal neurofibroma. Due to the rarity of the disease, we present the first case identified in the Portuguese population and also perform a review of this entity in the adult, to contribute for a better understanding of the disease. Os neurofibromas são tumores benignos de origem neural, que surgem mais frequentemente associados à neurofibromatose. Contudo, podem também surgir como lesões isoladas, sendo a sua ocorrência na laringe extremamente rara. Apresenta-se o caso de uma doente de 56 anos com queixas de odinofagia, disfonia, disfagia e dispneia em que a avaliação otorrinolaringológica revelou uma lesão volumosa faringo-laríngea, com compromisso da permeabilidade da via aérea e necessidade de realização de traqueotomia. A doente foi submetida a ressecção cirúrgica subsequente, comprovando-se o diagnóstico de neurofibroma solitário da laringe. Tendo em conta a raridade da doença, descreve-se o primeiro caso reportado na população portuguesa, realizando-se também uma revisão bibliográfica desta entidade no adulto, com vista ao contributo para a melhor compreensão da doença.

Neuroblastoma is the most frequently diagnosed neural tumor of childhood. Abnormal function of the long intergenic non-coding RNA (lincRNA) LINC00673 has been implicated in various human malignancies. Genome-wide association studies revealed the LINC00673 rs11655237 C>T polymorphism to be associated with the risk of neuroblastoma, though the effect was not well defined, in part due to the small sample size in our earlier study. Herein, we verified the impact of LINC00673 rs11655237 C>T on the risk of neuroblastoma in 700 cases and 1516 controls from six centers in China. After pooling all enrolled patients, we observed a significant association between LINC00673 rs11655237 C>T and risk of neuroblastoma (TT vs. CC: adjusted odds ratio [OR]=1.58, 95% confidence interval [CI]=1.06-2.35, P=0.024; additive model: adjusted OR=1.20, 95% CI=1.03-1.39, P=0.020; recessive model: adjusted OR=1.50, 95% CI=1.02-2.22, P=0.040). Stratification analysis revealed a significant relationship between rs11655237 CT/TT and neuroblastoma risk in subgroups of males, patients whose tumor originated in the adrenal gland, and patients with clinical stage IV disease. These findings add new evidence of the importance of LINC00673 rs11655237 C>T to the risk of developing neuroblastoma.

Neural tumors can generally be divided into central nervous system tumors and peripheral nervous tumors. Because this type of tumor is located in the nerve, even benign tumors are often difficult to remove by surgery. In addition, the majority of neural tumors are malignant, and it is particular the same for the central nervous system tumors. Even treated with the means such as chemotherapy and radiotherapy, they are also difficult to completely cure. In recent years, an increasingly number of studies have focused on the use of mRNA to treat tumors, representing an emerging gene therapy. The use of mRNA can use the expression of some functional proteins for the treatment of genetic disorders or tissue repair, and it can also be applied to immunotherapy through the expression of antigens, antibodies or receptors. Therefore, although these therapies are not fully-fledged enough, they have a broad research prospect. In addition, there are many ways to treat tumors using mRNA vaccines and exosomes carrying mRNA, which have drawn much attention. In this study, we reviewed the current research on the role of mRNA in the development, diagnosis, treatment and prognosis of neural tumors, and examine the future research prospects of mRNA in neural tumors and the opportunities and challenges that will arise in the future application of clinical treatment.

Lipofibromatosis-like neural tumor is a soft tissue tumor closely resembling lipofibromatosis (→ see dedicated section) and characterized by intermediate biological aggressiveness.

Palisaded encapsulated neuroma is a rare, benign neural tumor. The involvement of the glans penis is rare; few cases have been reported. We present a 52-year-old man with a five-month course of a solitary painless lesion of the glans penis. Full excision of the nodule was performed. Histopathological and immunohistochemical analyses and examination was consistent with a palisaded encapsulated neuroma. We describe one of a few existing cases of this kind of tumor in the glans penis.

A 14-month-old boy presented with a slow-growing, asymptomatic back plaque, which was biopsied and found to have S100 positivity, sparse CD34 staining, and no significant mitotic activity, nuclear pleomorphism, or necrosis; genetic workup found LMNA-NTRK1 gene fusion, overall consistent with lipofibromatosis-like neural tumor (LPF-NT). LPF-NT is rare, with 14 cases previously reported, and our patient is the first report of this diagnosis in infancy. This case report and literature review includes comparison of similar diagnoses including lipofibromatosis, low-grade malignant peripheral nerve sheath tumor, infantile fibrosarcoma, and dermatofibrosarcoma protuberans and serves to aid detection of LPF-NT presenting in pediatric patients by highlighting similarities and differences that should prompt consideration. LPF-NT shows locally aggressive behavior only and should not be confused with conditions that have potential for distant spread. However, case reports of metastasizing LMNA-NTRK1 tumors draw into question whether growths with this gene fusion exist on a spectrum of disease severity. Our patient was treated with wide local excision and has developed no complications or evidence of recurrence with 6 months of follow-up time.

Introduction Schwannomas are benign tumors originating from differentiated Schwann cells. Being the least common intraoral neoplasm of neural origin, it is rarely seen in the palate. The literature lacks an extensive review of intraoral schwannoma confined to the palate. Objective To review previously reported cases of palatal schwannoma along with an illustrative case, and to provide a better insight regarding clinicopathological and radiological features of this neural tumor in a rare intraoral site. Data Synthesis We present a case of palatal schwannoma in a 16-year-old female. An additional 45 cases were identified in 2 medical database searches (PubMed and Google Scholar) published from the year 1985 onwards, and from 13 countries, in the 5 continents. The ages of the patients ranged from 3 to 84 years old. Palatal schwannoma showed a slight predilection to females, with a male/female ratio of ∼ 1:1.81. Hard palate involvement is almost twice greater than soft palate involvement. Surgical excision was employed in almost all of the cases, and recurrence was reported only once. Conclusion Palatal schwannomas, although rare, have been reported both over the hard and the soft palate. They mostly present as a painless, firm, well-encapsulated, slow-growing solitary lesion over the lateral palatal aspect.Imaging can add to suspicion and can delineate a differential diagnosis, but the diagnosis is confirmed by pathological examination. Fine-needle aspiration cytology (FNAC) is almost always inconclusive. Immunohistochemistry can assist in confirming a diagnosis, but is more important to rule out close differentials. Complete surgical excision is the treatment of choice, and recurrence or malignant transformation are extremely rare.

Schwannoma is usually an uncommon benign encapsulated slow-growing neural tumor that originates from Schwann cells of peripheral, cranial, and autonomic nerves. It constitutes 1% to 8% of all head and neck neoplasms. Extracranial schwannoma are very rarely seen originating from the infraorbital nerve. Most of the schwannomas are usually solitary and not associated with NF1. The typical presentation is a slow-growing soft-tissue mass. Treatment of schwannoma is surgical resection.

Henrik Smeds,1,2 Jeremy Wales,1,2 Tiit Mathiesen,3–6 Mats Talbäck,7 Maria Feychting7 1Department of Otolaryngology, Karolinska University Hospital, Stockholm, Sweden; 2Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; 3Department of Neurosurgery, Karolinska University Hospital, Stockholm, Sweden; 4Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; 5Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; 6Department of Neurosurgery, Rigshospitalet, Copenhagen, Denmark; 7Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden Purpose: Cochlear implants are widely used for hearing rehabilitation of deaf children with congenital deafness or adults with acquired severe-to-profound hearing loss. The sound processor antenna creates a radio frequency-electromagnetic field transmitting the sound signal to the implant, similar to that in a mobile phone. A recent case report suggested a relationship between cochlear implants and malignant glioma, and some epidemiological studies have suggested an increased glioma and acoustic neuroma risk associated with long hours of mobile phone use. An epidemiological study is warranted to evaluate such a relationship in patients with cochlear implants.Patients and methods: To examine whether this chronic radio frequency-electromagnetic field signaling is associated with an increased brain tumor risk, a population-based cohort study was performed examining all 2,748 patients receiving a cochlear implant in Sweden during the years 1989–2014. In all, 3,169 surgeries were performed in the total cohort. The expected occurrence of glioma, meningioma, and acoustic neuroma in the patient cohort was calculated using specific national incidence rates in the Swedish population.Results: Four patients were diagnosed with a brain tumor during follow-up, three of them having meningioma compared with 0.95 expected (standardized incidence ratio =3.16, 95%CI0.65–9.24), and one had glioma compared with 1.34 expected (standardized incidence ratio =0.75, 95%CI0.02–4.15). No case of acoustic neuroma was observed compared with 0.09 expected.Conclusion: In this study, we did not find support for concerns raised in a previous case report regarding a potentially higher risk of glioma. The number of brain tumors observed was well within the numbers expected from national incidence figures. Although this was a relatively small cohort with a limited follow-up time, it is the largest epidemiological study to date to address this concern. Keywords: cochlear implants, glioblastoma, neural tumor, non-ionizing radiation, radio frequency-electromagnetic radiation

Ganglioneuromas are a very rare benign neural tumor, commonly derived from the ganglia of the sympathetic system, and are composed of mature Schwann cells, ganglion cells, and nerve fibres. They may arise anywhere from the base of the skull to the pelvis along the paravertebral sympathetic plexus. We report a rare case of synchronous ganglioneuroma and schwannoma, mistaken for carotid body tumor. The coexistence of these two entities in head and neck region is very rare.

Background Ovarian mature cystic teratomas (MCTs) rarely transform to primary primitive neuroectodermal tumors. This case report offers evidence that MCTs might have undetected microfoci of malignant neural tumors. Case We describe the case of a 12-year-old girl who presented with right-sided abdominal pain and distention. Intraoperative findings revealed a right ovarian MCT. However, pathology showed a 0.5-cm focus of malignant neural tumor within the 11-cm MCT. Summary and Conclusion This patient will need close follow-up with a multidisciplinary team because the clinical implications of this transformation has yet to be defined.

Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, electrolyte disorders like a hypernatriemia, and neural tumor (ROHHADNET) is a newly described syndrome that can cause cardioresperitory arrests and death. It mimics several endocrine disorders or genetic obesity syndromes during early childhood and is associated with various forms of hypothalamic-pituitary endocrine dysfunctions that have not yet been fully investigated. The article describes the clinical case of a 4-year old patient.

Schwannomas, also known as neurilemmomas, are uncommon neoplasms apparently derived from Schwann cells. The growth of these tumors causes displacement and compression of the nerve of origin. Schwannomas are usually solitary lesions but can be multiple when associated with neurofibromatosis. Anti-S100 protein is the most widely used antibody for the identification of this neoplasm. Surgical excision is the treatment of choice for schwannomas, with few and controversial reports of recurrence or malignant transformation. The present article reports 7 additional cases of oral schwannoma, and the literature is reviewed regarding clinicopathologic features, immunohistochemical findings, differential diagnosis, and therapeutic management of this benign neural tumor.

The identification of the original cells in tumors may allow for measures that protect the original cells and prevent tumor formation. In the present study, we isolated a subpopulation of cells with the features of neural tumor cells from transformed BMDCs in vitro. These neural tumor cells expressed the markers of neural tumor progenitor cells and differentiated neural tumor cells in vitro. Moreover, the subcloned cells from transformed BMDCs could migrate to distant tissues and drive peripheral neural tumors in vivo. Therefore, our results further verify that transformed mouse BMDCs are a potential source of peripheral neural tumors.

Ganglioneuroma (GN) is a rare benign neural tumor, usually derived from the ganglia of the sympathetic system. This report describes a 36-year-old man who presented with back pain and local tenderness that closely mimicked the clinical and ima-ging findings of spondylodiskitis. However, histologic examination made the diagnosis of GN. To our knowledge, this is the first report presenting the pattern of a GN as a differential diagnosis of spondylodiskitis.

Dendritic cell neurofibroma with pseudorosettes is a recently proposed, rare variant of neurofibroma. It has a distinctive histopathological finding that is composed of two types of cells that form a pseudorosette, which may be easily misdiagnosed as other neural tumor. Here, we report one typical case in order to raise awareness of this entity.

Primary brain tumours are greatly diverse and are classified according to histological features, anatomical location, childhood versus adult onset, plus in a few cases genetic and epigenetic modifications. The outcome of (epi)genetic perturbations can depend on cellular context so it is relevant to enquire about the cell of origin of the various tumour types. Glioma, the most prevalent class of primary brain tumours, can originate not only from various types of glial cells but also neural stem or progenitor cells and even neurons. These cell types exist in the simple model organism Drosophila melanogaster which, along with its powerful genetics, make it a valuable model to study early steps in brain tumour formation. The small size, developmental speed, genome compaction, genetic amenability, and stereotypical and recognizeable neural lineages of the fruitfly allow for precise identification of the cell type of origin of neural tumours and mechanisms of early progression in the context of a whole organism. We have identified a number of microRNAs that are oncogenic in the context of Drosophila neural lineages. For some we have identified the tumour cell of origin as neurons and molecular characteristics of the ectopic progenitors generated using cell-type markers. We report the identification of neuron-derived fate-ambivalent progenitors.

Malignant peripheral nerve sheath tumor is a rare soft tissue sarcoma. Breast is an extremely rare location of this lesion and presentation as a breast lump in the absence of pain or previous benign neural tumor is even rarer. We report such a lesion in a 60 year-old female who presented with hard and painless breast lump for 2 years. Histopathology revealed a malignant spindle cell tumor of low grade potential. It was subsequently confirmed to be malignant peripheral nerve sheath tumor (MPNST) on the basis of immunopositivity for vimentin, neurone specific enolase and S-100.

Gangliosides are important cell surface molecules in tumors of the nervous system. Initially thought of particularly as diagnostic disease markers, the biological properties and in vivo roles of tumor gangliosides have been recognized more recently. The latter affect the formation and progression of tumors of many types, including neural tumors. This chapter focuses on a prominent and almost universal dynamic property of tumor cells, the rapid synthesis and shedding of gangliosides, and consequences on the host response to tumors. In contemporary terms, these effects are understood to be functional properties of tumor cells affecting normal cells in the tumor microenvironment. Some of the most comprehensive studies have been possible in the human neuroectodermal tumors, neuroblastomas, including first observations of the shedding and activities of human tumor gangliosides. Citing other selected examples from tumors of different types, the impact and mechanisms of action of tumor gangliosides in facilitating tumor formation and progression will be delineated, leading to consideration of clinical relevance and therapeutic implications.

Eight cases of paranasal sinus tumors with central skull base disease are presented. Each patient had coned down noncontrast and contrast-enhanced magnetic resonance imaging (MRI) studies to evaluate the tumor margins and any potential tumor spread into the cavernous sinuses, V2 and the Vidian nerve. Two patients had tumors that extended up to the face of the sphenoid bone and one had a tumor in the ventral cavernous sinus. These three patients had a complete tumor resection with postoperative irradiation. Two more patients had extensive tumor invasion of the central skull base, one was treated with only irradiation, one refused treatment. Three more patients had tumors that involved the ventral portion of the sphenoid bone with limited neural tumor extension. Two of these patients had surgery with cavernous sinus dissections followed by irradiation. One patient delayed treatment for 2 months and when he returned he had a more extensive tumor and was considered incurable by surgery. He refused further treatment. The technique of the focused MR examination and its impact on treatment planning is discussed.

Several neurologic paraneoplastic disorders are believed to be caused by an autoimmune reaction against antigen(s) co-expressed by tumour cells and neurons. Of the paraneoplastic syndromes, the evidence for an autoimmune etiology is strongest for the Lambert–Eaton myasthenic syndrome, in which autoantibodies downregulate voltage-gated calcium channels at the presynaptic nerve terminal. For other syndromes, including cerebellar degeneration, multifocal encephalomyelitis, sensory neuronopathy, limbic encephalitis, opsoclonus-myoclonus, stiff person syndrome, and retinal degeneration, the autoimmune theory is supported by the presence of specific antineuronal antibodies. These antibodies serve as a useful diagnostic tool, but their actual role in causing neuronal injury and clinical disease remains unclear. Further understanding of immunopathogenesis awaits successful experimental models. Among different syndromes, a varied proportion of patients shows neurologic improvement with immunosuppressive treatments; it is likely that many patients have already suffered irreversible neuronal injury at the time of diagnosis.

Neurofibroma is a benign neural tumor. Plexiform type of this tumor is rarely seen in oral cavity in solitary form. In this article, we present an 18-year-old male case with an isolated plexiform neurofibroma localized at buccal region without any other manifestation or family history of neurofibromatosis type 1.

We present a case of a young woman with Birt-Hogg-Dube syndrome and multiple neurilemmomas involving different nerves in a single extremity. Birt-Hogg-Dube is an uncommon but increasingly recognized syndrome. Hand surgeons may wish to consider this disease when faced with a patient with multiple neurilemmomas, especially when associated with renal tumors, spontaneous pneumothoraces, or other benign or malignant neural or non-neural tumors.

Neural tumors within the jaw bones are exceptional. We present the histologic observation of a central mandibular tumor of neural origin. Immunohistochemistry confirmed the neural nature of the tumor, which had features of a schwannoma (neurilemmoma) together with ganglion cells as seen in ganglioneuroma. Moreover, the association with an intracranial tumor, possibly a meningioma, is emphasized.