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Sushmitha Malpe Gopal, Anuradha C K Rao, Ranjini Kudva, Rajgopal Shenoy
No abstract text is available yet for this article.
February 2016: Pathology
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
Darren Yap, Hannah Fox, Julia Addams-Williams
Neurofibroma is a slow growing benign tumour of the peripheral nerve sheath which is frequently associated with neurofibromatosis type 1 (Prakash et al., 2014). Isolated solitary occurrence of neurofibroma in the maxillary sinus is rare with only 29 reported cases in the literature. We present a rare case of a 70-year-old gentleman who was referred to ENT with a right maxillary sinus neurofibroma with extension into the right inferior orbit. He has significant proptosis, ptosis, and limitation in abduction of the right eye...
2016: Case Reports in Pathology
J Wu, W Liu, J P Williams, N Ratner
Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients are predisposed to develop benign Schwann cell (SC) tumours called neurofibromas. In the mouse, loss of Nf1 in the SC lineage causes neurofibroma formation. The tyrosine kinase receptor EGFR is expressed in Schwann cell precursors (SCP), which have been implicated in plexiform neurofibroma initiation. To test if EGFR activity affects neurofibroma initiation, size, and/or number, we studied mice expressing human EGFR in SCs and SCP in the context of mice that form neurofibromas...
October 17, 2016: Oncogene
Marcelo P N Carvalho, Natalia C C A Fernandes, Viviane C Nemer, Ramiro N Dias Neto, Rodrigo H F Teixeira, Bruna S Miranda, Maria J Mamprim, José L Catão-Dias, Rodrigo A Réssio
Peripheral nerve sheath tumors are a heterogeneous group of neoplasms that comprise neurofibromas, schwannomas, neurilemmomas, and perineuromas. In animals, peripheral nerve sheath neoplasms are most commonly diagnosed in dogs and cattle, followed by horses, goats, and cats, but their occurrence is uncommon in birds. An adult, free-living, male toco (common) toucan ( Ramphastos toco ) was admitted to the zoo animal clinic with weight loss, dehydration, and presence of a soft nodule adhered to the medial portion of the left pectoral muscle...
September 2016: Journal of Avian Medicine and Surgery
Sunil Tripathi, C B Pandey, T N Dubey, Priyanka Singh
Von Recklinghausen's neurofibromatosis (NF-1) is a phacomatosis characterised by widespread nervous system tumours with cutaneous manifestations and variably associated anomalies. We report here a case, who, in addition to classical features of NF-1 (café-au-lait spots, cutaneous and subcutaneous neurofibromas) demonstrated radiological evidence of both spinal and intracranial neurofibromas and an incidentally discovered horse-shoe kidney. The unique constellation of spinal and intracranial neurofibromas, with associated horse-shoe kidney...
February 2016: Journal of the Association of Physicians of India
Yoshiaki Shimada, Masayuki Horiguchi
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximately 4 mm in height, and was covered by the extended superior rectus muscle. The diagnosis of equatorial staphyloma was made after coronal T1-weighted magnetic resonance imaging of the orbit revealed the dilatation of the vitreous cavity...
May 2016: Case Reports in Ophthalmology
Raissa Coelho Andrade, Anna Claudia Evangelista Dos Santos, Joaquim Caetano de Aguirre Neto, Julián Nevado, Pablo Lapunzina, Fernando Regla Vargas
Li-Fraumeni and Li-Fraumeni like syndromes (LFS/LFL) represent rare cancer-prone conditions associated mostly with sarcomas, breast cancer, brain tumors, and adrenocortical carcinomas. TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. The frequency of LFS/LFL families with no TP53 mutations detected suggests the involvement of other genes in the syndrome. In this study, we searched for mutations in TP53 in 39 probands from families with criteria for LFS/LFL...
October 6, 2016: Familial Cancer
Lan Sun, Lingli Tu, Enqiang Liu, Jin Zhang, Man Wei, Guiyu Wei
No abstract text is available yet for this article.
August 2016: Quantitative Imaging in Medicine and Surgery
Christopher R Jackson, Eugen C Minca, Jyoti P Kapil, Steven Christopher Smith, Steven D Billings
Malignant peripheral nerve sheath tumors are rare soft tissue sarcomas with histological and immunohistochemical similarities to spindle cell melanoma. Although spindle cell melanoma is significantly more common, both tumors may express S100 and lack staining for HMB-45, Melan-A, or MITF. Here we present a case of superficial malignant peripheral nerve sheath tumor with diffuse S100 positivity arising in a subtle neurofibroma in close proximity to an intradermal melanocytic nevus. This configuration had led to prior misdiagnosis as a desmoplastic melanoma arising in the nevus and to sentinel lymph node biopsy...
September 30, 2016: Journal of Cutaneous Pathology
Erika F Rodriguez, Jaishri Blakeley, Shannon Langmead, Alessandro Olivi, Anthony Tufaro, Abeer Tabbarah, Gail Berkenblit, Justin M Sacks, Scott D Newsome, Elizabeth Montgomery, Fausto J Rodriguez
Leptomeningeal dissemination of low grade Schwann cell neoplasms is an exceptionally rare occurrence, and has not been well documented in the literature. We encountered two cases of leptomeningeal dissemination of low grade Schwann cell neoplasms. Patient 1 was a 63-year-old woman with NF1 and a progressive low grade MPNST developing from a diffuse/plexiform orbital neurofibroma that arose in childhood. The neoplasm demonstrated local and leptomeningeal dissemination intracranially leading to the patient's death...
September 22, 2016: Human Pathology
Jin-Shei Lai, Sally E Jensen, Zabin S Patel, Robert Listernick, Joel Charrow
Neurofibromatosis Type 1 (NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients' quality of life (QOL), highlighting the value of incorporating the patients' perspective when evaluating treatment outcomes. To better conceptualize the experience of patients with pNFs, this qualitative study sought to identify the most important outcomes to assess from the perspective of patients, families, and clinicians. Clinicians, patients age 5 years old and above, and parents of patients aged 5-17 years participated in semi-structured interviews to elicit the pNF symptoms/concerns considered most important to assess...
September 26, 2016: American Journal of Medical Genetics. Part A
M Galukande, A Khingi
BACKGROUND: Chest wall schwannomas are rare tumors arising from the intercostals nerves. Schwannomas are lobulated, encapsulated spherical masses, different from neurofibromas in that matter. Men and women are equally affected in their third and fourth decades. CASE PRESENTATION: A 42 year old female presented with a 6 month history of progressively worsening pain over the right shoulder and chest wall, aggravated by movement and with associated right arm oedema and paraesthesia...
2016: SpringerPlus
Piotr Czuczwar, Anna Stepniak, Piotr Szkodziak, Agnieszka Korolczuk, Tomasz Paszkowski, Slawomir Wozniak
It is rare for neurofibromatosis to occur in the female genital tract. We report a case of a plexiform neurofibroma in the left fallopian tube in a 50-year-old postmenopausal woman. The initial diagnosis was a pedunculated leiomyoma or a fallopian tube tumor. Laparotomy was performed and a solid mass approximately 90 x 60 x 40 mm in size was found in the left fallopian tube. Total abdominal hysterectomy and bilateral salpingo-oophorectomy with an appendectomy, lymphadenectomy and omentectomy was performed. The histopathological diagnosis was plexiform neurofibroma...
September 19, 2016: Journal of Obstetrics and Gynaecology Research
Harjus Birk, Corinna C Zygourakis, Michel Kliot
Peripheral nerve tumors such as neurofibromas and schwannomas have become increasingly identified secondary to improved imaging modalities including magnetic resonance neurogram and ultrasound. Given that a majority of these peripheral nerve tumors are benign lesions, it becomes important to determine appropriate management of such asymptomatic masses. We propose a normal cost-effective management paradigm for asymptomatic peripheral nerve neurofibromas and schwannomas that has been paired with economic analyses...
2016: Surgical Neurology International
Muhammed Afsal, Veena Chowdhury, Anjali Prakash, Sapna Singh, Neera Chowdhury
PURPOSE: Traditionally, peripheral nerve lesions are diagnosed on the basis of clinical history, physical examination, and electrophysiological studies, and the role of imaging studies has been limited. The purpose of the study was to assess the usefulness of sonography in diagnosing peripheral nerve lesions. MATERIALS AND METHODS: Thirty adult patients with peripheral nerve lesion/s and 30 healthy adult volunteers were included in the study, and sonography of the relevant peripheral nerve/s was done...
September 2016: Neurology India
Sirkku Peltonen, Roope A Kallionpää, Juha Peltonen
Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the NF1 gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras-GTPase activating protein (RasGAP), and NF1 mutations lead to over-activation of the Ras signaling pathway. The NF1 gene and neurofibromin have intriguing functions in keratinocytes and melanocytes...
September 13, 2016: Experimental Dermatology
Philip R Cohen
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed.MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor...
2016: Dermatology Online Journal
Hua Li, Lung-Ji Chang, Debbie R Neubauer, David F Muir, Margaret R Wallace
Neurofibromas, which are benign Schwann cell tumors, are the hallmark feature in the autosomal dominant condition neurofibromatosis 1 (NF1) and are associated with biallelic loss of NF1 gene function. There is a need for effective therapies for neurofibromas, particularly the larger, plexiform neurofibromas. Tissue culture is an important tool for research. However, it is difficult to derive enriched human Schwann cell cultures, and most enter replicative senescence after 6-10 passages, impeding cell-based research in NF1...
October 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
M K Ahsan, N Sakeb, M Y Ali, M A Awwal, S I Khan, M M Goni, M B Mia, M B Alam, N Zaman, S N Jannat
Results of 63 surgically treated intradural spinal tumors between the period of October 2003 and December 2014 at Bangabandhu Sheikh Mujib Medical University (BSMMU) and in our private settings, Dhaka, were analyzed retrospectively. There were 33 males, 30 females with an average age of 52.4 years (13-70 years) and followed up for at least a year. The preoperative symptom with duration, tumors location and intradural space occupancy and the histopathological diagnosis were analyzed. Pain was evaluated by the visual analogue scale (VAS) and the neurologic function was assessed by Nurick's grade...
July 2016: Mymensingh Medical Journal: MMJ
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