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Plexiform Neurofibroma

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
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
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
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
Scott R Plotkin, Stephanie D Davis, Kent A Robertson, Srivandana Akshintala, Julian Allen, Michael J Fisher, Jaishri O Blakeley, Brigitte C Widemann, Rosalie E Ferner, Carole L Marcus
OBJECTIVE: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improvement in sleep quality or airway function represents direct clinical benefit, measures of sleep and pulmonary function may be more meaningful than tumor size as endpoints in therapeutic clinical trials targeting airway PN...
August 16, 2016: Neurology
Xiaojie Hu, Melia Bogari, Andy Tan, Xiaoyan Gao, Yang Gao, Hui Chen, Wei Li, Yunbo Jin, Gang Ma, Xiaoxi Lin
BACKGROUND: Large temporal plexiform neurofibroma (PNF) is an irritating problem that causes facial disfigurement. Surgical resection of PNF is the only effective way to remove the tumor as well as to improve the patient's facial appearance. However, temporal branch of the facial nerve (TBFN) in the tumor is prone to be destroyed during PNF removal. Thus, TBFN palsy is the inevitable complication after surgery and might induce other malformation and dysfunction. Therefore, the aim of this study is to reconstruct a nearly normal face contour while preserving the facial nerve function...
September 2016: Journal of Craniofacial Surgery
Regina I Jakacki, Eva Dombi, Seth M Steinberg, Stewart Goldman, Mark W Kieran, Nicole J Ullrich, Ian F Pollack, Anne Goodwin, Peter E Manley, Jason Fangusaro, Rudy Allen, Brigitte C Widemann
BACKGROUND: There is no proven medical therapy for plexiform neurofibromas (PNs). We undertook a phase II trial of pegylated interferon (PI) to evaluate response and time to progression (TTP). METHODS: PI was administered as a subcutaneous injection to patients with neurofibromatosis type 1‒related PN, stratified by the presence of symptoms (asymptomatic: stratum 1, symptomatic: stratum 2) or documented imaging progression (stratum 3). Patients in strata 1 and 2 received PI for up to one year if stable, 2 years for those with clinical (stratum 2) or imaging response (≥20% decrease in volume)...
August 10, 2016: Neuro-oncology
Bülent Satar, Yusuf Hıdır, Mehmet Burak Aşık, Ümit Aydın, Mustafa Gerek, İbrahim Yavan
Facial nerve neurofibromas are an uncommon entity, particularly in the intraparotid region. Three cases are presented herein, including the first reported case of both an intratemporal and intraparotid facial nerve malignant neurofibroma. To the best of our knowledge, this is the first medical publication to describe a neurofibroma involving both the intratemporal and intraparotid regions. The aim of this clinical record was to present the surgical experiences in three cases of intratemporal and intraparotid facial neurofibroma...
August 2016: Journal of International Advanced Otology
Sahejmeet S Guraya, Richard A Prayson
Primary salivary gland peripheral nerve sheath tumors (PNST) are uncommon. This study is a retrospective, clinicopathologic review of 9 cases of PNST (5 neurofibromas, 3 schwannomas and 1 malignant peripheral nerve sheath tumor (MPNST)) arising from the salivary glands, encountered between 1990 and 2015. All patients with neurofibromas were male (ages 1-62 years) and had a single parotid lesion of which 2 were diffuse, 2 plexiform and one mixed diffuse/plexiform. Four had a history of neurofibromatosis I. Four of 5 presented with symptoms related to mass effect including facial swelling, facial drooping, and dysphagia...
August 2016: Annals of Diagnostic Pathology
Panduranga Chikkannaiah, Mythri M Boovalli, Velusamy Nathiyal, Srinivasamurthy Venkataramappa
INTRODUCTION: Peripheral nerve sheath tumors (PNSTs) are neuroectodermal in origin. Now these tumors are classified under World Health Organization (WHO) classification of tumors of soft tissue and bone 2013. OBJECTIVE: To study the morphological spectrum of PNST and to study the secondary degenerative changes associated with it. MATERIALS AND METHODS: This study was conducted from January 2010 to June 2015. The gross details of tumor and patient's demographic profiles were reviewed...
July 2016: Journal of Neurosciences in Rural Practice
F T Mendonça, I Barreto de Moura, D Pellizzaro, B J Grossi, R Carvalho Diniz
OBJECTIVE: We report the anesthesia management of a 15 years-old patient with neurofibromatosis type 1, scheduled for resection of a tumor located in the occipitocervical region. In addition, we review the pertaining literature, emphasizing the anesthetic implications of neurofibromatosis manipulation. CASE : A 15-years-old female patient, with Neurofibromatosis type 1 was diagnosed with a large tumor in occipitocervical region suggestive of a plexiform neurofibroma. She presented with cervical instability, difficulty in positioning due to the large cervical mass and other predictors of airway difficulty...
2016: Acta Anaesthesiologica Belgica
Yi Li, John Mongan, Spencer C Behr, Seema Sud, Fergus V Coakley, Jeffry Simko, Antonio C Westphalen
Recent advances in magnetic resonance (MR) imaging of the prostate gland have dramatically improved the ability to detect and stage adenocarcinoma of the prostate, one of the most frequently diagnosed cancers in men and one of the most frequently diagnosed pathologic conditions of the prostate gland. A wide variety of nonadenocarcinoma diseases can also be seen with MR imaging, ranging from benign to malignant diseases, as well as infectious and inflammatory manifestations. Many of these diseases have distinctive imaging features that allow differentiation from prostate acinar adenocarcinoma...
July 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Mohamad J Alshikho, Salem I Noureldine, Joud M Talas, Antoine Nasimian, Safi Zazou, Bashir Mobaed, Mahmoud Nasser
BACKGROUND: Pancreatic endocrine tumors (PETs) are rare and can occur as part of neurofibromatosis type 1 (NF1). Gastrinomas are functional PETs that are rarely associated with NF1. Only two cases of their occurrence have been reported in the literature. CASE REPORT: A 28-year-old woman was admitted for further evaluation of epigastric soreness, heartburn, nausea, vomiting, diarrhea, and a significant weight loss. Physical examination was remarkable for cutaneous findings (axillary freckling and multiple café-au-lait spots) as well as neurofibromas (dermal, plexiform)...
2016: American Journal of Case Reports
Giovanni Ponti, Giovanni Pellacani, Davide Martorana, Victor Desmond Mandel, Pietro Loschi, Annamaria Pollio, Annarita Pecchi, Cristina Dealis, Stefania Seidenari, Aldo Tomasi
Elephantiasis neuromatosa (EN) can arise from a plexiform neurofibroma of the superficial and deep nerves developing from a hyperproliferation of the perineural connective tissue infiltrating adjacent fat and muscles. To date, the clinical association between EN and neurofibromatosis type 1 (NF1) has been poorly defined, particularly with regard to the role of lymphatic alterations and the consequent lymphedema. The present study reports the clinical and biomolecular features of EN in a NF1 patient with the clear clinical diagnostic criteria of multiple cafè-au-lait macules, neurofibromas, EN, a positive family history and a novel NF1 germline c...
June 2016: Oncology Letters
Anne Bernier, Albert Larbrisseau, Sebastien Perreault
BACKGROUND: The first sign of neurofibromatosis type 1 (NF1) in a child is often the presence of multiple café-au-lait macules. Although previous studies reported that almost individuals with multiple café-au-lait macules will eventually develop NF1 based on clinical criteria, recent studies and clinical observations suggest that a significant percentage of them do not have NF1. METHODS: We conducted the first systematic review of the literature on the prevalence of definitive NF1 among patients referred for isolated café-au-lait macules, searching more precisely for the proportion of those patients who do not have NF1...
July 2016: Pediatric Neurology
Kyung Han Lee, Sun Hong Yoo, Gi Tark Noh, Won Suk Heo, Byung Seong Ko, Jung Ah Chio, Hyo Jin Cho, Jin Young Choi, Hee Jun Kim, Won Sohn, Sang Jong Park, Young Min Park
Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common. We describe a patient who suffered from plexiform neurofibromatosis with liver involvement. A 49-year-old man, who had previously been diagnosed with neurofibromatosis, underwent esophagogastroduodenoscopy and abdominal ultrasonography for screening purposes. Esophagogastroduodenoscopy showed grade 2 esophageal varices and abdominal ultrasonography showed conglomerated nodules with echogenic appearances in the perihepatic space...
June 2016: Clinical and Molecular Hepatology
Paola Cecilia Stefano, Sebastian Nicolas Apa, Agustina Maria Lanoël, Josefina Sala María, Sergio Sierre, Adrián Martin Pierini
Plexiform neurofibromas are benign tumors originating from peripheral nerve sheaths, generally associated with Neurofibromatosis Type 1 (NF1). They are diffuse, painful and sometimes locally invasive, generating cosmetic problems. This report discusses an adolescent patient who presented with an isolated, giant plexiform neurofibroma on her leg that was confused with a vascular lesion due to its clinical aspects. Once the diagnosis was confirmed by surgical biopsy, excision of the lesion was performed with improvement of the symptoms...
April 2016: Anais Brasileiros de Dermatologia
Robert C Rennert, J Scott Pannell, Michael L Levy, Alexander A Khalessi
No abstract text is available yet for this article.
April 8, 2016: ANZ Journal of Surgery
Staci Martin, Pamela L Wolters, Mary Anne Toledo-Tamula, Shawn Nelson Schmitt, Andrea Baldwin, Amy Starosta, Andrea Gillespie, Brigitte Widemann
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting about 1 in 3,500 individuals. Chronic pain is commonly reported among individuals with NF1 and plexiform neurofibroma tumors (PNs). Acceptance and Commitment Therapy (ACT), an empirically supported method for addressing chronic pain, helps individuals re-focus on valued relationships and activities. This pilot study investigated the feasibility and preliminary efficacy of a brief ACT workshop in the NF1 population. Eligible participants included adolescents and young adults (AYA; 12-21 years) with NF1 and chronic pain that interfered with daily functioning and their parents...
June 2016: American Journal of Medical Genetics. Part A
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