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https://www.readbyqxmd.com/read/29137242/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#1
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29135271/-removal-of-giant-adrenal-tumors-using-the-laparoscopic-transperitoneal-technique-a-report-of-three-successful-cases
#2
Aurél Ottlakán, Attila Paszt, Bernadett Borda, Zsolt Simonka, Szabolcs Ábrahám, György Lázár
With the development of laparoscopic adrenalectomy, indications for resection gradually span from small and benign to bigger and even malignant lesions. We studied the results of laparoscopic adrenalectomy for giant (>10 cm) adrenal tumors in three cases. Three patients (2 female, 1 male, mean age 49.33 years, BMI 31) underwent laparoscopic transperitoneal adrenalectomy due to giant (>10 cm) adrenal lesions with a limited size Pfannenstiel incision. Mean operative time was 126.66 minutes, with a mean intraoperative blood loss of 150 ml...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29132495/solitary-neurofibroma-of-gingiva-an-immunohistochemical-interpretation-using-s-100
#3
Manas Bajpai, Manika Arora, Betina Chandolia
No abstract text is available yet for this article.
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29119198/-segmental-neurofibromatosis
#4
G Wagner, V Meyer, M M Sachse
Thirteen years ago, a 48-year-old man developed numerous neurofibromas in a circumscribed area on the right chest. At the same time, a bilateral seminoma was diagnosed and treated curatively. There was no evidence for other complications of neurofibromatosis. The family history was inconspicuous. The segmental neurofibromatosis (SN) presented in this patient is the result of a mosaic formation resulting from a mutation of the NF1 gene, a tumor suppressor gene. Concomitant, typical diseases of neurofibromatosis generalisata (NFG), including malignant neoplasms, are the exception to SN...
November 8, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29119042/extradural-hemangioma-mimicking-a-dumbbell-nerve-sheath-tumor-in-the-thoracolumbar-spine-case-report
#5
Sourabh Chachan, H R Bin Abd Razak, W Lim Loo, C Sheng Tan, S K Dinesh
Background: Extradural hemangiomas are rare, have varied and challenging clinical presentations, and require special considerations from the management point of view. Case Description: A 70-year-old female presented with back pain that was ultimately attributed to a thoracolumbar extra-dural "dumbbell" hemangioma. Following surgical resection, the patient did well. Conclusion: Extradural hemangiomas may present as spinal extradural soft tissue masses that must be differentiated from dumbbell neurofibroma...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29117388/neurofibromatosis-type-1-associated-mpnst-state-of-the-science-outlining-a-research-agenda-for-the-future
#6
Karlyne M Reilly, AeRang Kim, Jaishri Blakely, Rosalie E Ferner, David H Gutmann, Eric Legius, Markku M Miettinen, R Lor Randall, Nancy Ratner, N L Jumbé, Annette Bakker, David Viskochil, Brigitte C Widemann, Douglas R Stewart
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma for which the only effective therapy is surgery. In 2016, an international meeting entitled "MPNST State of the Science: Outlining a Research Agenda for the Future" was convened to establish short- and long-term research priorities. Key recommendations included the: 1) development of standardized, cost-efficient fluorodeoxyglucose positron emission tomography and whole-body magnetic resonance imaging guidelines to evaluate masses concerning for MPNST; 2) development of better understanding and histologic criteria for the transformation of a plexiform neurofibroma to MPNST; 3) establishment of a centralized database to collect genetic, genomic, histologic, immunohistochemical, molecular, radiographic, treatment, and related clinical data from MPNST subspecialty centers in a standardized manner; 4) creation of accurate mouse models to study the plexiform neurofibroma-to-MPNST transition, MPNST metastasis, and drug resistance; 5) use of trial designs that minimize regulatory requirements, maximize availability to patients, consider novel secondary end points, and study patients with newly diagnosed disease...
August 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29112020/distinguishing-neurofibroma-from-desmoplastic-melanoma-the-value-of-p53
#7
Ashley Elsensohn, Jessica Shiu, Narina Grove, Anna-Marie Hosking, Ronald Barr, Sébastien de Feraudy
Distinguishing desmoplastic melanomas (DMs) from neurofibromas (NFs) can be histologically challenging in some cases. To date, a reliable marker to differentiate the 2 entities has remained elusive. S100 subtyping and CD34 fingerprinting have been proposed, but controversy remains as to their reliability. Missense mutations in TP53 are often found in DMs, resulting in a dominant negative effect and paradoxical accumulation of the tumor suppressor protein p53. We hypothesized that p53 may be expressed differentially in DMs, making it a valuable tool in differentiating DMs from NFs...
November 3, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29104109/aberrant-expression-of-thyroid-transcription-factor-1-in-schwannomas
#8
Dai-Zhong Wang, Ping Liu, Li Yao, Ying-Hua Hao, Rui-Juan Zhu, Tao Zhang, Xian-Bin Tang
Aberrant expression of thyroid transcription factor-1 (TTF-1) has been observed in tumors arising in locations other than thyroid gland, lung and ventral forebrain. However, TTF-1 expression in schwannomas has not yet been studied. Meanwhile, a few inconsistent changes in protein expression have been identified between schwannomas and other peripheral nerve sheath tumors. We evaluated TTF-1 expression in 161 schwannomas and 43 other peripheral nervous system lesions, including ganglioneuromas (n=8), malignant peripheral nerve sheath tumors (MPNSTs) (n=11), neurofibromas (n=24), and traumatic neuromas (n=9), using immunohistochemistry and verified it using quantitative real-time reverse transcription polymerase chain reaction (qPCR) to explore TTF-1 expression in peripheral nervous system lesions...
November 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/29099382/-neurofibromas-in-the-urogenital-system-report-of-two-cases-and-literature-review
#9
María Asunción Costa-Martínez, Matías Prieto Vita, Liliana Elisabeth Garcés Proaño, Carlos Carro Rubias, Manuel Ángel Ortiz Gorraiz, Ernesto De Nova Sánchez
OBJECTIVE: We introduce two cases of a 46 and 66-year-old patient, both diagnosed with pelvic neurofibroma (One located in a seminal vesicle, the other in the bladder). The first patient had been diagnosed with Neurofibromatosis type 1 while the other was diagnosed with a sporadic neurofibroma. METHODS: During a study for lower urinary tract symptoms referred, these patients were diagnosed seminal vesicle and bladder neurofibroma, respectively, using image and histological tests...
November 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/29098729/clinical-severity-in-japanese-patients-with-neurofibromatosis-1-based-on-dnb-classification
#10
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous complications. Although clinical manifestations of NF1 are variable, there has been no report on evaluation of severity in patients with NF1. To elucidate the grade of severity of NF1, a retrospective study was conducted in 124 NF1 patients at the Department of Dermatology of Tottori University Hospital in 2007-2016. The DNB classification (dermatological, neurological and bone manifestations) in Japan was used for assessment...
November 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29097016/volumetric-mri-analysis-of-plexiform-neurofibromas-in-neurofibromatosis-type-1-comparison-of-two-methods
#11
Wenli Cai, Seth M Steinberg, Miriam A Bredella, Gina Basinsky, Bhanusupriya Somarouthu, Scott R Plotkin, Jeffrey Solomon, Brigitte C Widemann, Gordon J Harris, Eva Dombi
OBJECTIVES: Plexiform neurofibromas (PNs) are complex, histologically benign peripheral nerve sheath tumors that are challenging to measure by simple line measurements. Computer-aided volumetric segmentation of PN has become the recommended method to assess response in clinical trials directed at PN. Different methods for volumetric analysis of PN have been developed. The goal of this study is to test the level of agreement in volume measurements and in interval changes using two separate methods of volumetric magnetic resonance imaging analysis...
October 30, 2017: Academic Radiology
https://www.readbyqxmd.com/read/29080953/fatal-acute-retropharyngeal-hemorrhage-in-neurofibromatosis-type-1
#12
Pierre-Antoine Peyron, Michael S Pollanen
We report the sudden death of a woman with neurofibromatosis type 1 (NF1). The decedent developed acute respiratory distress and died rapidly despite an emergent cricothyroidotomy. An autopsy with postmortem CT scan was performed to determine the cause of the fatal respiratory collapse and to determine if death was related to neurofibromatosis. Postmortem examination revealed the classical external hallmarks of neurofibromatosis, including innumerable cutaneous neurofibromas. In addition, there was a massive retropharyngeal hematoma with fatal extrinsic compression of the airway...
October 28, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29079545/thsd7a-associated-membranous-nephropathy-in-a-patient-with-neurofibromatosis-type-1
#13
Fujun Lin, Dan Zhang, Juan Chang, Xuanli Tang, Wenbin Guan, Gengru Jiang, Chun Zhu, Fan Bian
Target antigens in idiopathic membranous nephropathy (MN) include the phospholipase A2 receptor (PLA2R), and in some cases, the thrombospondin type 1 domain-containing 7A (THSD7A). A notable phenomenon is the high rate of cancer (reported to be as high as 20%) in patients with THSD7A-associated MN. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots. In this article, we report a patient with NF1 who developed THSD7A-associated MN when the NF1 skin lesions deteriorated...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29057366/spinal-tumour-primary-cervical-extradural-meningioma-at-an-unusual-location
#14
Ishita Pant, Vinod Kumar Singh Gautam, Rima Kumari, Sujata Chaturvedi
Extradural spinal meningiomas are extremely rare, more so in the cervical region. A purely extradural location as reported in this paper is quite exceptional. The authors report a case of extradural meningioma in a 50-year-old male located in the cervical spine that was surgically treated with the provisional diagnosis of a neurofibroma. Histopathological diagnosis of meningothelial meningioma was made with the routine hematoxylin and eosin (HE) stain. The origin, clinical course, radiological features, pathological findings with the differential diagnosis and surgical treatment are discussed based on a review of the literature...
September 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29057177/a-rare-case-report-of-a-paratesticular-fibrous-pseudotumor-mimicking-a-hydrocele
#15
Srinivasan Dharanya, Chellappa Vijayakumar, Sundaramurthi Sudharsanan, Sadasivan Jagdish
Tumors arising in the spermatic cord are very rare. The common benign tumors of the spermatic cord include adenomatoid tumor, lipoma, neurofibroma, and leiomyoma. We report a rare case of fibrous pseudotumor of the spermatic cord presenting clinically as a hydrocele. A 28-year-old male presented with the complaint of swelling in the left scrotum, which gradually progressed in size over four years. Clinically, the swelling was soft and fluctuant. The left testis was not separately made out and a diagnosis of left hydrocele was made...
August 14, 2017: Curēus
https://www.readbyqxmd.com/read/29055717/development-of-3d-culture-models-of-plexiform-neurofibroma-and-initial-application-for-phenotypic-characterization-and-drug-screening
#16
REVIEW
Janice M Kraniak, Anita Chalasani, Margaret R Wallace, Raymond R Mattingly
Plexiform neurofibromas (PNs), which may be present at birth in up to half of children with type 1 neurofibromatosis (NF1), can cause serious loss of function, such as quadriparesis, and can undergo malignant transformation. Surgery is the first line treatment although the invasive nature of these tumors often prevents complete resection. Recent clinical trials have shown promising success for some drugs, notably selumetinib, an inhibitor of MAP kinase kinase (MEK). We have developed three-dimensional (3D) cell culture models of immortalized cells from NF1 PNs and of control Schwann cells (SCs) that we believe mimic more closely the in vivo condition than conventional two-dimensional (2D) cell culture...
October 18, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29044092/isolated-nonpulsatile-enophthalmos-in-neurofibromatosis-an-uncommon-entity
#17
Swati Singh, Kaustubh Mulay, Vikas Mittal
Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#18
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29017308/ganglioneuroma-of-the-sacrum
#19
Donguk Lee, Woo Jin Choe, So Dug Lim
Presacral ganglioneuromas are extremely rare benign tumors and fewer than 20 cases have been reported in the literature. Ganglioneuromas are difficult to be differentiated preoperatively from tumors such as schwannomas, meningiomas, and neurofibromas with imaging modalities. The retroperitoneal approach for resection of presacral ganglioneuroma was performed for gross total resection of the tumor. Recurrence and malignant transformation of these tumors is rare. Adjuvant chemotherapy or radiation therapy is not indicated because of their benign nature...
September 2017: Korean Journal of Spine
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#20
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
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