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https://www.readbyqxmd.com/read/29774626/analysis-of-intra-tumor-heterogeneity-in-neurofibromatosis-type-1-plexiform-neurofibromas-and-neurofibromas-with-atypical-features-correlating-histological-and-genomic-findings
#1
Meritxell Carrió, Bernat Gel, Ernest Terribas, Adriana Carolina Zucchiatti, Teresa Moliné, Inma Rosas, Álex Teulé, Santiago Ramón Y Cajal, Juan Carlos López-Gutiérrez, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Anat Stemmer-Rachamimov, Cleofé Romagosa, Eduard Serra
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30-50% Neurofibromatosis type 1 (NF1) patients. Atypical neurofibromas (ANF) are distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation in ANF is difficult to assess. A recent NIH workshop has stratified ANFs and separated a subgroup with multiple atypical features and higher risk of malignant transformation termed atypical neurofibromatous neoplasms with uncertain biological potential (ANNUBP)...
May 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/29774221/magnetic-resonance-imaging-findings-for-differential-diagnosis-of-perianal-plexiform-schwannoma-case-report-and-review-of-the-literature
#2
Xue-Liang Sun, Ke Wen, Zhi-Zhong Xu, Xiao-Peng Wang
Plexiform schwannoma is an extremely rare variant of schwannoma, accounting for approximately 5% of cases. Due to the rarity and lack of typical symptoms, signs and radiological images, a definite diagnosis of plexiform schwannoma may not be made by clinicians prior to biopsy. In the present study, we report the first case (to our knowledge) of perianal plexiform schwannoma arising from the overlapped skin of the ischioanal fossa, and we propose an intratumorally nonenhanced circumferential capsule dividing the tumour into multiple homogeneously enhanced nodules as a magnetic resonance imaging feature to aid in the differential diagnosis of plexiform schwannoma from ancient schwannoma, cavernous haemangioma, liposarcoma and plexiform neurofibroma...
May 16, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29768331/the-value-of-18f-fdg-pet-ct-in-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#3
Jiazhong Ren, Guoren Yang, Jing Zhou, Zheng Fu
RATIONALE: Neurofibromatosis type one (NF1) is characterized by cutaneous and nervous lesions, and the tendency to form plexiform neurofibromas (PNFs). PNFs may undergo malignant transformation into a malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs often carry an significant morbidity and mortality. PATIENT CONCERNS: A 17-year-old man with gradually increased multiple subcutaneous soft lesions. He also presented with numerous lentigines and multiple café-au-lait macules on his body...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29767492/solitary-vulvar-neurofibroma-in-a-patient-without-neurofibromatosis
#4
Filomena Russo, Virginia Mancini, Paolo Taddeucci, Michele Fimiani
No abstract text is available yet for this article.
August 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29766474/masses-of-developmental-and-genetic-origin-affecting-the-paediatric-craniofacial-skeleton
#5
REVIEW
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29764827/not-so-mass-effect-finding-of-a-remarkable-incidentaloma-in-a-teenager-with-neurofibromatosis
#6
Daniel John Keen, Hannah Norman-Bruce, Salah Mansy
A 13-year-old boy with neurofibromatosis type 1 presented to the emergency department twice in a fortnight with moderate intermittent abdominal pain, radiating to the back and associated with nausea and vomiting. He examined as a well child with a soft abdomen and minimal tenderness. A history of constipation was identified but he failed to respond to a trial of laxatives. Subsequent ultrasound abdomen demonstrated a large mass surrounding the porta hepatis. MRI further characterised a focal, non-aggressive lesion extending from his liver, encapsulating his pancreas, portal vessels and laterally displacing his spleen and left kidney...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29764701/a-combination-of-skeletal-deformations-of-the-dorsal-mandible-and-temporomandibular-region-detected-in-orthopantomograms-of-patients-with-neurofibromatosis-type-1-indicates-an-associated-ipsilateral-plexiform-neurofibroma
#7
Reinhard E Friedrich, Anika Reul
PURPOSE: Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Here we aimed to analyse the mandibular alterations of NF1-affected individuals from orthopantomograms (OPGs). MATERIALS AND METHODS: This study analyses 358 OPGs of 358 patients (mean age, 34...
April 26, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29762158/recent-advances-in-the-diagnosis-and-pathogenesis-of-neurofibromatosis-type-1-nf1-associated-peripheral-nervous-system-neoplasms
#8
Jody F Longo, Shannon M Weber, Brittany P Turner-Ivey, Steven L Carroll
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients...
May 4, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29755279/bilateral-orbital-isolated-solitary-neurofibroma-in-the-absence-of-neurofibromatosis-a-case-report
#9
Khalid M Alshomar, Hind M Alkatan, Adel H Alsuhaibani
Isolated neurofibroma is a slowly progressive tumor rarely found in the orbit accounting for less than 1% of the space occupying lesions of the orbit. It usually presents in the 2nd to 5th decades of life with proptosis, swelling, visual changes, ptosis, diplopia or pain. Almost all cases reported are unilateral. We report a 23-year-old female with no systemic features or family history of neurofibromatosis who presented with right upper eyelid swelling. Radiological studies revealed bilateral identical masses in the superior orbits...
January 2018: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29738061/use-of-ultrasound-guided-supraclavicular-brachial-plexus-block-as-an-anesthesia-technique-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#10
Emine Aysu Şalvız, Emre Sertaç Bingül, Meltem Savran Karadeniz, Ömer Berköz, Erman Ak, Kamil Mehmet Tuğrul
Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity and mortality...
April 2018: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29734249/endoglin-is-highly-expressed-in-human-mast-cells
#11
Suéllen Trentin Brum, Ana Paula Demasi, Rafael Fantelli Stelini, Maria Letícia Cintra, Vera Cavalcanti de Araujo, Andresa Borges Soares
Endoglin, known to be expressed in proliferating vessels, is of worth when evaluating microvessel density as a prognostic factor in many types of malignancies, including some subtypes of leukemia cells. In childhood acute lymphoblastic leukemia, endoglin is associated with adverse outcome. In bone marrow, endoglin identifies the repopulating hematopoietic stem cells. Mast cells are a component of normal tissue and play an important role in the regulation of several processes, including inflammation and neoplasia...
May 4, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29718344/association-of-plexiform-neurofibroma-volume-changes-and-development-of-clinical-morbidities-in-neurofibromatosis-1
#12
Andrea M Gross, Gurbani Singh, Srivandana Akshintala, Andrea Baldwin, Eva Dombi, Somto Ukwuani, Anne Goodwin, David J Liewehr, Seth M Steinberg, Brigitte C Widemann
Background: Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN volumes. However, no previous study has assessed the association between changes in PN volumes and PN related morbidities. Our objective was to assess if increasing PN volume in NF1 is associated with increasing PN related morbidity. Methods: Retrospective review of patients enrolled on the NCI NF1 Natural History study with ≥ 7 years of data available...
April 28, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29707374/successful-surgical-treatment-of-massive-spontaneous-hemothorax-due-to-intrathoracic-secondary-degeneration-of-a-neurofibroma-from-mediastinal-involvement-of-type-1-neurofibromatosis
#13
Seong Cheol Jeong, Jae Jun Kim, Si Young Choi, Yong Hwan Kim, In Sub Kim
Massive hemothorax caused by a mediastinal mass is extremely rare. Herein, we present a case of successful surgery for a massive hemothorax caused by intrathoracic cystic hemorrhagic degeneration of a neurofibroma in a patient with neurofibromatosis type 1 (NF1). A 44-year-old man with NF1 was admitted to our emergency department for chest pain and dyspnea. Image studies revealed a massive hemothorax caused by a posterior mediastinal mass adjacent to the descending aorta and the spinal canal. The tumor, located at the fourth to the sixth thoracic vertebra, had diffusely and extensively infiltrated around proliferative vessels...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29696709/simple-method-for-estimating-cutaneous-neurofibromas-in-patients-with-neurofibromatosis-1
#14
Yuichi Yoshida, Yuko Ehara, Hiroshi Noma, Osamu Yamamoto
No abstract text is available yet for this article.
May 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29695767/cutaneous-neurofibromas-in-the-genomics-era-current-understanding-and-open-questions
#15
REVIEW
Robert J Allaway, Sara J C Gosline, Salvatore La Rosa, Pamela Knight, Annette Bakker, Justin Guinney, Lu Q Le
Cutaneous neurofibromas (cNF) are a nearly ubiquitous symptom of neurofibromatosis type 1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the neurofibromatosis type 1 tumour suppressor gene (NF1). Symptoms of NF1 can include learning disabilities, bone abnormalities and predisposition to tumours such as cNFs, plexiform neurofibromas, malignant peripheral nerve sheath tumours and optic nerve tumours. There are no therapies currently approved for cNFs aside from elective surgery, and the molecular aetiology of cNF remains relatively uncharacterised...
April 26, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29687675/massive-spontaneous-hemothorax-in-patients-with-neurofibromatosis-type-1
#16
Pedro José Gil Vázquez, Andrés Del Amor Arroyo Tristán, Jesús Martínez Baños, Juan Torres Lanzas
Spontaneous hemothorax is an uncommon event that can occur in patients with a history of neurofibromatosis type 1 because of intrathoracic vascular malformations that predispose to aneurysms or bleeding from thoracic tumors. Only 53 cases of this rare association have been reported in the literature since 1975. We described 2 cases: one patient was a 73-year-old man with a right hemothorax secondary to an intercostal neurofibroma; the other was a 35-year-old woman with a left hemothorax secondary to a neurofibroma that compromised the internal mammary artery...
June 2018: Emergencias: Revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29686567/usefulness-of-intrapartum-magnetic-resonance-imaging-for-a-parturient-with-neurofibromatosis-type-1-during-induction-of-labor-for-preeclampsia
#17
Jacqueline M Galvan, Michael P Hofkamp
A 22-year-old woman, G3P0 at 31 weeks, 1 day gestational age, was admitted to the labor and delivery unit for induction of labor (IOL) due to preeclampsia with severe features. Her medical history included neurofibromatosis type 1 (NF-1) and systemic lupus erythematosus with pericarditis and pericardial effusion. When labor analgesia was considered, the concern for an undiagnosed spinal neurofibroma and attendant sequelae was deliberated. After a multidisciplinary discussion, the IOL was halted during the cervical ripening phase to allow timely magnetic resonance imaging (MRI) of the spine...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#18
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29676336/erratum-isolated-neurofibroma-of-the-eyelid-mimicking-recurrent-chalazion
#19
(no author information available yet)
[This corrects the article DOI: 10.4103/ijo.IJO_852_17].
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29673180/accurate-classification-of-nf1-gene-variants-in-84-italian-patients-with-neurofibromatosis-type-1
#20
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients...
April 17, 2018: Genes
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