Unexpected high frequency of neurofibroma in the celiac ganglion of German cattle.

In a study originally designed to find potential risk factors for bovine spongiform encephalopathy (BSE) we examined tissues from 403 Holstein Frisian cattle in total. These included 20 BSE cattle and their 236 birth- and feeding cohort animals plus 32 offspring, 103 age, breed and district-matched control cattle and further twelve cattle with neurological signs. In addition to the obex, we examined the celiac ganglion, cervical cranial ganglion, trigeminal ganglion and proximal ganglion of the vagus nerve using histological techniques. Unexpectedly, we found a high number of neurofibroma, a benign peripheral nerve sheath tumor consisting of Schwann cells, fibroblasts and perineural cells. The neurofibroma were present only in the celiac ganglion and found during histologic examination. With a frequency of 9.91% in BSE cattle and their cohorts (case animals) and 9.09% in the age, breed and district matched control animals there seems to be no correlation between the occurrence of BSE and neurofibroma. Benign peripheral nerve sheath tumors have been described more often in cattle than in other domestic animals. Usually, they are incidental macroscopic findings in the thoracic ganglia during meat inspection. To our knowledge, there are no previous systematic histologic studies including bovine celiac ganglia at all. The high incidence of celiac ganglia neurofibroma may play a role in the frequently occurring abomasal displacements in Holstein Frisian cattle as the tumors might cause a gastrointestinal motility disorder. At present a genetic predisposition for these neoplasms cannot be ruled out.

Neurofibromatosis segmentaria / Segmental neurofibromatosis

RESUMEN Presentamos un caso de neurofibromatosis segmentaria, en un paciente de sexo masculino de 60 años de edad. Los neurofibromas se localizaban en región cervical, los mismos eran asintomáticos, de 8 años de evolución.

ABSTRACT A case of segmental neurofibromatosis in a 60 years old male patient is presented along with a brief review of the literature. The patient had 8 years old neurofibromas, located in the cervical region; they were asymptomatic. No other alteration of type 1 neurofibromatosis was found.

Intradural extramedullary spinal masses treated at the Wits teaching hospitals between 2014 - 2017.

BACKGROUND: Intradural extramedullary (IDEM) spinal masses are common lesions with varying histological diagnoses often associated with significant neurological deficits. This study aimed to describe the epidemiology, management and perioperative outcome of IDEM tumours seen at the teaching hospitals of the University of the Witwatersrand, Johannesburg, between 2014 and 2017. RESULTS: 92 patients were included in the study. The ages ranged from 21 to 87 years, sex ratio was M:F 1:1.4, and duration of symptoms prior to diagnosis ranged between 3 days to 18 months. Local and radicular type pain as well as motor weakness were the commonest symptoms. 67% had severe neurological deficit McCormick Grade III and IV. Schwannoma (26) Neurofibromas (21) and Meningiomas (16) and were the most frequent tumour types. Meningiomas predominantly occurred at the cranio-cervical and thoracic levels. Nerve sheath tumours were mostly found at the cervical and lumbar levels while filum terminale ependymomas occurred at the thoracolumbar area. Laminectomy was the commonest surgical approach employed, and the extent of resection varied, with total excision in half the cases. Neurological function was regained in 3 patients, deteriorated in two and was unchanged in the remainder. CONCLUSION: IDEM tumours are an important subset of spinal cord compressive lesions Presentation with severe neurological deficit is common and though resection is feasible neurological deficit remains in the vast majority. Earlier detection should improve the results of surgery.

Hyalinized Neurofibromas: Not Just Rare Variants in Skin of the Female Breast.

Although classical neurofibromas are commonly encountered skin lesions, histologic variants are infrequent. We report a greater than 15-year retrospective review of a single institution's experience with the histopathologic diagnosis of neurofibroma of the female breast with a focus on the hyalinized variant. An electronic histopathology record review (CoPathPlus; Cerner Corp, North Kansas City, MO) was conducted from January 1, 2000, to October 16, 2015, for all "neurofibroma" diagnoses rendered in "females" at the anatomical site "breast". All cases were microscopically revisited and subclassified into 1 of 10 histopathologic categories. Immunohistochemistry (IHC) for S100, tryptase, and CD117 were performed on 19 hyalinized and 19 age-matched classical neurofibromas. During the study period, 62,021 breast specimens were reviewed at our institution. Of these, 86 (0.14%) were diagnosed as neurofibromas. Subclassification was as follows: 50 classical (58%), 19 hyalinized (22%), 6 diffuse (7%), 5 cellular (6%), 3 myxoid (4%), 2 epithelioid (2%), and 1 plexiform (1%). All hyalinized and age-matched classical neurofibromas were S100 positive. The mean number of IHC-positive mast cells per high-power field (hpf) was 34.5 by tryptase and 26.8 by CD117 for the hyalinized subset and 22.5 by tryptase and 19.3 by CD117 for the classical cohort. Published literature reports a 2.6% incidence of hyalinized neurofibromas at nonspecial cutaneous sites. Our series details a 22% incidence in the breast. Regarding pathophysiology, there is a statistically significant increase in the average number of IHC-positive mast cells per hpf in hyalinized variants when compared with classical neurofibromas of the breast both by tryptase (P = 0.00157) and CD117 (P = 0.00901).

Infratemporal fossa tumors: When to suspect a malignant tumor? A retrospective cohort study of 62 cases.

OBJECTIVES: Infratemporal fossa (ITF) tumors are rare and little is known about their general epidemiology, making it sometimes difficult for clinicians, who seldom encounter them, to distinguish between benign and malignant forms on the basis of the initial clinical and radiological work-up alone. The objectives of this retrospective study were: (i) to determine the respective prevalences of the various histologic types of ITF tumor, and (ii) to assess associations between certain clinical and radiological features and malignancy. METHODS: A single-center observational study in a university hospital included all new consecutive cases of ITF tumor treated from January 2000 to December 2016. Histologic type, demographics, clinical presentation and imaging findings were analyzed. RESULTS: In total, 62 patients were included. 74% of tumors were benign (n=46) and 26% malignant. Juvenile nasopharyngeal angiofibroma, adenoid cystic carcinoma and schwannoma were the most frequent histologic types, accounting for 47%, 16% and 10% of cases, respectively. The only clinical or imaging signs significantly associated with malignancy were trismus, facial pain, facial hypoesthesia and neural invasion on magnetic resonance imaging (all P-values<0.05). CONCLUSION: This study provides general epidemiological data on ITF tumors, and identified several clinical and radiologic signs to help clinicians suspect malignancy.

Prevalence and clinicopathological characteristics of lipomatous neurofibromas in neurofibromatosis 1: An investigation of 229 cutaneous neurofibromas and a systematic review of the literature.

BACKGROUND: Lipomatous neurofibroma (Lnf) is a histopathological variant with adipocytes noted among cells of cutaneous neurofibromas. We aimed to investigate the prevalence and clinicopathological features of Lnfs of neurofibromatosis 1 (NF1)-associated cutaneous neurofibromas and to review the literature systematically. We also evaluated the expression of leptin (a hormone involved in lipid metabolism) in neurofibromas to better understand the pathogenesis of Lnfs. METHODS: A prospective histologic study was conducted on 229 cutaneous neurofibromas from 85 NF1 individuals. Leptin expression was immunohistochemically evaluated in 111 cutaneous neurofibromas. To systematically review the literature, two authors independently performed literature searches without year restriction. RESULTS: Forty (17.5%) neurofibromas were lipomatous. Lnfs were significantly larger lesions and associated with females. Eighteen (7.9%) of all neurofibromas had multinucleated floret-like giant cells, and these were associated with Lnfs. All neurofibromas expressed leptin. We systematically reviewed 13 articles. Three large studies investigated Lnfs mainly in sporadic neurofibromas and suggested that 0.3% to 8.0% of tumors (NF1 and sporadic) are Lnfs. CONCLUSION: In NF1, Lnfs are common, mainly in larger tumors and women. All cutaneous NF1-neurofibromas express leptin. It is unknown if the expression of leptin accounts for the lipomatous variant, but it may have a role in the pathogenesis of cutaneous neurofibroma.

Hybrid peripheral nerve sheath tumors: report of five cases and detailed review of literature.

BACKGROUND: Hybrid peripheral nerve sheath tumors (PNSTs) have been recognized recently and were first included in the 4th edition of World Health Organization (WHO) Classification of Tumors of Soft tissue and Bone, published in 2013. These tumors show combined features of more than one type of conventional benign peripheral nerve sheath tumors. The most common combinations are those of schwannoma/perineurioma followed by combinations of neurofibroma/schwannoma and neurofibroma/perineurioma. A detailed literature review of published cases is presented. We have discussed the types and etiology, epidemiology and sites of localization, gross and microscopic appearances and immunohistochemical features of hybrid PNSTs and association of these tumors with tumor syndromes. CASE PRESENTATION: We have included five cases which were diagnosed in our department as we believe that publication of these new cases is relevant for the improved understanding of these specific tumors. Four of our five patients were males, mean age was 24 years. There was wide variation in the location of these tumors. Mean size of excised tumors was 5.5 cms in the greatest dimensions. Three out of five cases represented hybrid schwannoma/perineurioma histologically. No significant nuclear atypia, mitotic activity or necrosis seen. All five cases were completely excised. All five patients are alive and well at the time of writing with no recurrence. CONCLUSION: Hybrid PNSTs are distinct tumors and are usually benign. However, rare case reports have described local recurrence and at least two recent case reports have described malignant transformation in these tumors. Further studies on large number of cases are required to determine the exact pathogenetic basis of these tumors.

Morphological Differences in the Vertebrae of Scoliosis Secondary to Neurofibromatosis Type 1 With and Without Paraspinal Neurofibromas.

STUDY DESIGN: A retrospective study. OBJECTIVE: Aim of the study was to investigate morphological differences in the vertebrae of scoliosis secondary to neurofibromatosis type 1 (NF1-S) with and without paraspinal neurofibromas and to identify the relationship between paraspinal neurofibromas and vertebral deformity. SUMMARY OF BACKGROUND DATA: Scoliosis is the most common orthopedic manifestation of NF1. Erosion or infiltration of the bone by localized neurofibromas was suggested as one of the primary etiology for the vertebral deformity. METHODS: One hundred fourteen patients with NF1-S were classified into spinal tumor (ST) group and nontumor (NT) group with respect to the presence of paraspinal neurofibromas. The curve pattern, curve magnitude, the shape and location of paraspinal neurofibromas, and various kinds of morphological changes of vertebrae were evaluated by complete radiographs were compared between the two groups to determine whether the presence of paraspinal neurofibromas could be associated with a more severe vertebral deformity. RESULTS: The ST and NT groups included 54 patients (age, 16.8 ±â€Š5.5 years) and 60 patients (age, 17.3 ±â€Š4.2 years), respectively. The Cobb angles of the main curve were 72.3°â€Š±â€Š20.6° and 65.4°â€Š±â€Š19.4° for the ST and NT groups, respectively. No significant differences were observed between the two groups in age, sex ratio, and Cobb angle. There were significant differences between the ST and NT groups in apical vertebral rotation (36.8°â€Š±â€Š7.2° vs. 27.5°â€Š±â€Š6.8°; P < 0.001) and the prevalence of rotatory subluxation (66.1% vs. 35.0%; P = 0.04). Most of the paraspinal neurofibromas (70.4%) developed within the apical region, with the majority (29/38) located on the concave side. CONCLUSION: The NF1-S patients with paraspinal neurofibromas had significantly higher prevalence of morphological changes of vertebrae. The paraspinal neurofibromas, most of which were located on the concave side of the apical region, could be associated with more severe vertebral deformities. LEVEL OF EVIDENCE: 3.

Benign nerve tumours of the hand (excluding wrist).

INTRODUCTION: Hand tumours of neural origin are rare in clinical practice. The aim of this work is to present our experience in operative treatment of benign nerve tumours located in the hand. Special emphasis has been put on determining the occurrence rates of particular tumour types characterized by their unique histopathological patterns and describing detailed location of the lesions. The obtained results of treatment were assessed. MATERIALS AND METHODS: The study comprised of 26 patients, both female (19) and male (7). The mean age and age range of the female and male patients were 44.8 years (range, 21-73 years) and 39.6 years (range, 21-74 years), respectively. The patients underwent operative treatment for tumours of neurogenic origin located in the hand between the years 1990 and 2013. In total, 31 tumours in 26 patients were removed. The most common site of tumour origin was small cutaneous branches and only exceptionally the tumours arose from common digital nerves (2 patients). No patient was lost to postoperative follow-up. The shortest period of postoperative follow-up covered 1 year. RESULTS: No tumour recurrence was detected during postoperative follow-up examinations. The patients reported neither pain nor presence of paraesthesias. Neurofibromas (17 tumours) predominated in the gathered clinical material, while the second most common group of tumours were schwannomas (12 tumours). CONCLUSIONS: (1) Benign nerve tumours of the hand are rare. Neurofibromas and schwannomas predominate among them. Tumours having other histopathological patterns are extremely uncommon. (2) The prognosis after resection of benign nerve tumours located in the hand is good and the risk of postoperative complications and recurrence is low.

Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.

BACKGROUND: Skin neurofibromas represent one of the main clinical manifestations of neurofibromatosis 1, and their number varies greatly between individuals. Quantifying their number is an important step in the methodology of many clinical studies, but counting neurofibromas one by one in individuals with thousands of tumors is arduous, time-consuming, and subject to intra and interexaminer variability. We aimed to evaluate the efficacy of a new methodology for skin neurofibromas quantification using paper frames. METHODS: The sample comprised 92 individuals with NF1. Paper frames, with a central square measuring 100 cm2, were placed on the back, abdomen and thigh. Images were taken, transferred to a computer and two independent examiners counted the neurofibromas. The average number of neurofibromas/100 cm2 of skin was obtained from the mean of the three values. The differences in the quantity of neurofibromas counted by two examiners were evaluated with Intraclass correlation coefficient (ICC), paired t-test, Bland-Altman and survival-agreement plots. To evaluate the predictive value of the method in obtaining the total number of neurofibromas, 49 participants also had their tumors counted one by one. Reproducibility was assessed with Pearson's correlation coefficients and simple linear regression model. RESULTS: There was excellent agreement between examiners (ICC range 0.992-0.997) and the total number of skin neurofibromas could be predicted by the adhesive frames technique using a specific formula (P < 0.0001). CONCLUSIONS: In this article we describe a reliable, easy and rapid technique using paper frames to quantify skin neurofibromas that accurately predicts the total number of these tumors in patients with NF1. This method may be a useful tool in clinical practice and clinical research to help achieve an accurate quantitative phenotype of NF1.

[Orbit evisceration: retrospective study on a consecutive series of 10 years]. / Exenteratii de orbita: studiu retrospectiv pe o serie consecutiva de 10 ani.

Exenteration of the orbit is challenging in its anatomical, surgical and postsurgical management-related issues. We describe a surgical series of 65 patients diagnosed at Neurosurgery and Ophthal-mology departments; between 2003 and 2012, 65 cases with intraorbital tumors were identified and underwent partial or total exenteration of the orbit. The most frequent dignosticated tumor which underwent exenteration were spinous and basal carcinoma of the orbit (41.5 %) followed by neurofibroma The most common preoperative sign was proptosis (100%), followed by ocular and orbital pain (6.1%) and visual acuity loss (3.07%). Preoperatively signs included alteration of the facial aspect (96.9%), behavioural, emotional and social difficulties, especially in young people (6,9%). Although there is an extremely mutilant surgical procedure, pain is often relieved. Therefore, the surgical aim should be life preserving and relief of leading symptoms; estetic aspect of the patients was also one of postoperative aims.

Manifestaciones clínicas y neurorradiológicas en los adultos con neurofibromatosis tipo 1 / Clinical and neuroradiological signs in adults with type 1 neurofibromatosis

Introducción: La neurofibromatosis tipo 1 es el trastorno neurocutáneo más frecuente. La mayoría de las series de casos publicadas son sobre la población pediátrica. Material y métodos: Estudio transversal de los casos de neurofibromatosis tipo 1 en las consultas de neurología recogidos en una base de datos. Se han analizado las diferentes variables clínicas que conforman el diagnóstico, así como las variables demográficas y neurorradiológicas. Resultados: Se han encontrado un total de 31 pacientes con neurofibromatosis tipo 1. La edad media ha sido de 28,9 años y el 58,4% son mujeres. Los sujetos con lesiones tipo Unidentified bright objects (UBO) son más jóvenes que los que no las presentan (22,45 ± 8,22 años vs. 32,5 ± 10,64; p = 0,011), por el contrario, los sujetos con neurofibromas son mayores que los que no los tienen (30,56 ± 10,68 años vs. 18,25 ± 4,34; p = 0,032). No hay diferencias de sexo en la presentación de las variables clínicas ni radiológicas. Siete pacientes presentaron tumores (22,6%), 3 fueron gliomas del tracto óptico (uno de ellos bilateral), 3 neurofibromas plexiformes y un astrocitoma pilocítico del troncoencéfalo. Conclusiones: Los pacientes con neurofibromatosis tipo 1 no solo presentan lesiones tumorales a nivel periférico en forma de neurofibromas, sino también a nivel del sistema nervioso central. La edad de los sujetos que tienen neurofibromas es mayor que la que no los presentan, sin embargo, los que presentan UBO son más jóvenes que los que no poseen estas lesiones (AU)

Introduction: Type 1 neurofibromatosis is the most common neurocutaneous syndrome. Most published case series study the paediatric population. Material and methods: Cross-sectional study of cases of type 1 neurofibromatosis from neurology departments that were recorded in a database. We analysed the different clinical variables providing the diagnosis as well as demographic and neuroradiological variables. Results: We found a total of 31 patients with type 1 neurofibromatosis. The mean age was 28.9 years and 58.4% were women. Subjects with unidentified bright objects (UBOs) were younger than those without them (22.45±8.22 years vs. 32.5±10.64; P=.011). In contrast, subjects with neurofibromas were older than those without them (30.56±10.68 years vs. 18.25±4.34; P=.032). No sex differences were found in the presentation of clinical or radiological variables. Seven patients (22.6%) had tumours; 3 were optic pathway gliomas (1 bilateral), 3 were plexiform neurofibromas, and 1 was a pilocytic astrocytoma in the brainstem. Conclusions: Patients with type 1 neurofibromatosis presented both peripheral neurofibromas and tumorous lesions of the central nervous system. Subjects with neurofibromas were older than those who did not present them, while subjects with UBOs were younger than those without such lesions (AU)

Submucosal neoplasms of the laryngeal introitus.

BACKGROUND: The differential diagnosis of endolaryngeal mesenchymal neoplasms includes a wide spectrum of benign and malignant pathologies, which have been rarely photo-documented and assessed as a group. METHODS: Non-epithelial neoplasms of the endolarynx seen at our centre from 2002 to 2011 (n = 38; 36 treated at our institution) were retrospectively reviewed, with attention to clinical presentation, radiographic imaging, operative management, histology, and pre- and post-operative endoscopy. Submucosal squamous cell carcinomas, mucosal cysts, amyloid and Teflon granulomas were excluded. RESULTS: Twenty-three of a total of 36 patients underwent definitive endoscopic surgical treatment. Supraglottic pathologies included lymphoma, lipoma, neuroendocrine carcinoma, lymphangioma, oncocytoma, haemangioma, synovial cell sarcoma and benign spindle cell neoplasm. Transglottic pathologies included synovial cell sarcoma and granular cell tumour. Glottic pathologies included granular cell tumour, osteoma, rhabdomyoma, rhabdomycosarcoma and myofibroblastic sarcoma. Subglottic pathologies included chondrosarcoma, neurofibroma, adenoid cystic carcinoma and vascular malformation. CONCLUSION: The site of origin, degree of malignant behaviour and sensitivity to adjuvant treatment determined the course of surgical management, i.e. endolaryngeal versus transcervical, and limited removal versus wider resection.

[Spinal tumors - part 2: intradural tumors. Epidemiology, clinical aspects and therapy]. / Spinale Tumoren - Teil 2: Intradurale Tumoren. Epidemiologie, klinische Aspekte und Therapie.

Intradural spinal tumors are classified in extra- and intramedullary tumors. The most frequent intradural-extramedullary tumors are meningiomas and neurinomas. Among the intradural-intramedullary tumors the most frequent ones are ependymomas and astrocytomas. Independent of their origin, spinal tumors usually manifest with progressive local or radicular pain and neurological deficits. The treatment of choice for most of these tumors is a complete surgical resection. In tumors with infiltrative growth into the intramedullary area, a marginal tumor tissue has to be left in situ in order to avoid additional neurological deficits. In particular if neurological deficits appear, a fast surgical intervention is indicated, since the prognosis depends on duration and severity of the preoperative existing deficits. Below, clinical presentation and relevant treatment options of spinal intradural tumors are discussed.

Evolving pattern with age of cutaneous signs in neurofibromatosis type 1: a cross-sectional study of 728 patients.

BACKGROUND: Neurofibromatosis type 1 is fully penetrant by the age of 8 years, and 3 criteria of diagnosis are dermatological: café-au-lait spots (CLS), intertriginous freckling and neurofibromas (NF). OBJECTIVES: The aim of our study was to determine the evolving pattern of cutaneous manifestations during adulthood. METHODS: Phenotypic data of patients seen in our center between March 2003 and December 2009 were studied. Patients were classified in 10-year groups. Following clinical characteristics, the number of CLS and the number of cutaneous and subcutaneous NF were compared according to age. RESULTS: 728 subjects, 404 females and 324 males (mean age of 32.4 years, range 6-80 years) were studied. Four hundred eighty-nine patients were over 20 years old (67%). The number of CLS (small or large) was significantly decreased with age while the number of cutaneous and subcutaneous NF was strongly increased (p < 0.001). CONCLUSIONS: The decrease in CLS with age has not been previously reported while an increase in the number of NF is well described during puberty and pregnancy and with age.

[Tumors of salivary glands: anatomical study and clinical epidemiology of a series of 180 cases]. / Les tumeurs des glandes salivaires: etude anatomo-clinique et. Epidemiologique d'une série de 180 cas.

BACKGROUND: The salivary gland tumors are rare (less than 3% of all tumors) and poorly known. In fact, they are numerous and histologically difficult to diagnose. AIM: This work aims to point at the different histological types of salivary gland tumors, to draw out the principal epidemiological, clinical, radiological and histological characteristics, and to compare our cases to those of the literature. METHODS: Accordingly, we performed a descriptive type study about 180 cases of salivary gland tumors from the departments of pathology and oto-rhino-laryngology of Habib Thameur hospital during 25 years, extending from April 1979 to December 2004. RESULTS: Benign tumors were predominant (88%), while malignant ones represented 12% of our cases dominated by carcinomas. The sex-ratio was 0.96. Parotid gland location was the most frequent one, and pleomorphic adenoma was the most frequent tumor (62%). CONCLUSION: Histological diversity of salivary tumors results in difficulties for differential diagnosis. These problems can be solved by a precise diagnostic approach and sometimes by an immunohistochemistry study.

[Orbital tumours in children and adolescents. Differential diagnostics and clinical symptoms]. / Orbitale Raumforderungen im Wachstumsalter. Differenzialdiagnostik und Krankheitsbilder.

BACKGROUND: The aim of this retrospective study was to determine the incidence of and surgical strategies used for treating orbital tumours in children and adolescents. PATIENTS AND METHODS: A retrospective chart review was carried out for 22 patients between the ages of 2 weeks and 18 years who were treated in the years 1997-2007 for suspected space-occupying orbital lesions. The specific investigation methods, therapy, and treatment results were described. RESULTS: The most frequent orbital lesions in the children in this study were mesenchymal tumours; the second most common were dermoids. Nineteen patients were surgically treated. Three children with malignant tumours underwent radiochemotherapy after surgery, and two died in the first year after diagnosis. Two other children with benign tumours suffered recurrence of their disease. CONCLUSION: The variety of orbital diseases in paediatric patients includes benign and malignant tumours as well as nonneoplastic lesions. The treatment of orbital disease is a diagnostic and therapeutic challenge for the attending physician.