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Angiofibroma

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https://www.readbyqxmd.com/read/28887603/molecular-signature-of-tumors-with-monoallelic-13q14-deletion-a-case-series-of-spindle-cell-lipoma-and-genetically-related-tumors-demonstrating-a-link-between-foxo1-status-and-p38-mapk-pathway
#1
Karina Uehara, Fukino Ikehara, Ryo Shibuya, Iwao Nakazato, Mariko Oshiro, Masaya Kiyuna, Yasuka Tanabe, Zensei Toyoda, Kiyoto Kurima, Shinichiro Kina, Masanori Hisaoka, Takao Kinjo
Spindle cell/pleomorphic lipomas (SCLs), cellular angiofibromas (CAFs) and mammary-type myofibroblastomas (MFBs) are rare benign mesenchymal tumors with monoallelic 13q14 deletion. They are predicted to have a common pathogenic mechanism due to shared similar histological and immunohistochemical features; however, pathological consequences of monoallelic 13q14 deletion remain unknown. We previously reported a CAF case with monoallelic 13q14 deletion in which the tumor expressed decreased levels of FOXO1 and RB1, both of which were encoded in 13q14, and increased reactive oxygen species (ROS) levels...
September 8, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28885437/cellular-angiofibroma-of-the-nasopharynx
#2
Zülküf Burak Erdur, Haydar Murat Yener, Mehmet Yilmaz, Ayşegül Batioğlu Karaaltin, Hakki Caner Inan, Elvin Alaskarov, Emine Deniz Gozen
Angiofibroma is a common tumor of the nasopharynx region but cellular type is extremely rare in head and neck. A 13-year-old boy presented with frequent epistaxis and nasal obstruction persisting for 6 months. According to the clinical symptoms and imaging studies juvenile angiofibroma was suspected. Following angiographic embolization total excision of the lesion by midfacial degloving approach was performed. Histological examination revealed that the tumor consisted of staghorn blood vessels and irregular fibrous stroma...
September 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28877055/solitary-fibrous-tumors-of-the-head-and-neck-a-multi-institutional-clinicopathologic-study
#3
Steven C Smith, William E Gooding, Matthew Elkins, Rajiv M Patel, Paul W Harms, Andrew S McDaniel, Nallasivam Palanisamy, Cora Uram-Tuculescu, Bonnie B Balzer, David R Lucas, Raja R Seethala, Jonathan B McHugh
Solitary fibrous tumors (SFTs) of the head and neck are uncommon. Lesions previously diagnosed in the head and neck as hemangiopericytomas (HPCs), giant cell angiofibromas (GCAs), and orbital fibrous histiocytomas (OFHs) are now recognized as within the expanded spectrum of SFTs. To better understand the clinicopathologic profile of head and neck SFTs, we performed a multi-institutional study of 88 examples. There was no sex predilection (F:M ratio 1.2), and the median patient age was 52 years (range: 15 to above 89 y)...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28845691/four-dimensional-ct-angiography-4d-cta-in-the-evaluation-of-juvenile-nasopharyngeal-angiofibromas-comparison-with-digital-subtraction-angiography-dsa-and-surgical-findings
#4
Zebin Xiao, Yingyan Zheng, Jian Li, Dehua Chen, Fang Liu, Dairong Cao
OBJECTIVES: To explore the value of four-dimensional CT angiography (4D-CTA) in the preoperative evaluation of JNAs using 320-row volume CT. METHODS: 4D-CTA and DSA data of 18 patients with histopathologically proven JNAs were retrospectively reviewed. The location, extent, feeding vessels and stage of JNAs were assessed by two radiologists independently and blindly. The agreements between both reviewers and between 4D-CTA and surgical findings for assessing the above indicators were analyzed respectively...
August 27, 2017: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/28781841/perioperative-airway-management-of-a-16-year-old-boy-with-progressive-airway-obstruction-due-to-juvenile-nasopharyngeal-angiofibroma
#5
Kei Kamiyama, Maiko Satomoto, Kotaro Minami, Yukiko Baba, Koshi Makita
Juvenile nasopharyngeal angiofibroma (JNA) involves difficult anesthetic management because of the risk of massive bleeding, while airway management is rarely a problem in JNA. This report presents an unusual case of JNA causing airway obstruction.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28781791/intra-articular-angiofibroma-of-soft-tissue-of-the-knee-a-case-report
#6
Yuuya Hashino, Jun Nishio, Akira Maeyama, Mikiko Aoki, Kazuki Nabeshima, Takuaki Yamamoto
Angiofibroma of soft tissue (AFST) is an extremely rare soft tissue neoplasm that typically presents as a slow-growing, painless mass in the extremities. The present study reports an unusual case of an intra-articular AFST occurring in the left knee of a 23-year-old female. Physical examination revealed a 3-cm, relatively mobile, elastic-hard, non-tender mass. Magnetic resonance imaging detected an intra-articular soft tissue mass with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28771801/tuberous-sclerosis-complex-in-29-children-clinical-and-genetic-analysis-and-facial-angiofibroma-responses-to-topical-sirolimus
#7
Senfen Wang, Yuanxiang Liu, Jinghai Wei, Jian Zhang, Zhaoyang Wang, Zigang Xu
BACKGROUND/OBJECTIVES: Tuberous sclerosis complex (TSC) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of TSC and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children. METHODS: Information was collected on 29 patients with TSC. Genetic analyses were performed in 12 children and their parents. Children were treated with 0.1% sirolimus ointment for 36 weeks...
September 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28765177/massive-juvenile-nasopharyngeal-angiofibroma-ode-to-the-open-surgical-approach
#8
Ravi Meher, Nikhil Arora, Eishaan Kamta Bhargava, Ruchika Juneja
The management of juvenile nasopharyngeal angiofibroma has undergone a significant evolution, with more surgeons moving towards the minimal invasive endoscopic approaches. Although considered the standard of care by most, an endoscopic approach may not be sufficient for extensive tumours, as exemplified by the current case of a young man presenting with the largest juvenile nasopharyngeal angiofibroma described in English literature until the present that was eventually excised via an anterior external approach...
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28759137/soft-tissue-sarcomas-from-a-morphological-to-a-molecular-biological-approach
#9
REVIEW
Yoshinao Oda, Hidetaka Yamamoto, Kenichi Kohashi, Yuichi Yamada, Kunio Iura, Takeaki Ishii, Akira Maekawa, Hirofumi Bekki
Recently developed molecular genetic techniques have led to the elucidation of tumor-specific genomic alterations and thereby the reclassification of tumor entities of soft tissue sarcoma. A solitary fibrous tumor-mimicking tumor with the AHRR-NCOA2 gene has been isolated as angiofibroma of soft tissue. As for small round cell sarcomas, novel fusion genes such as CIC-DUX4 and BCOR-CCNB3 have been identified in these tumor groups. SMARCB1/INI1 deficient tumors with round cell morphology are also expected to be reclassified in three types, based on the combination of their morphology and genotype...
July 31, 2017: Pathology International
https://www.readbyqxmd.com/read/28748259/primary-nasopharyngeal-polyps-a-case-series-on-a-rare-clinical-entity
#10
De Hua Chen, Mu Qiong Mo, Chew Lip Ng, Zhi Bin Lin, Tian Ying Li, Wei Ping Wen, Chun Wei Li
Primary non-neoplastic polyps originating from the nasopharynx have not been reported in the English language literature. We present the clinical and histopathological features of three primary nasopharyngeal polyps. Clinical data of three patients with primary nasopharyngeal polyps treated at the Department of Otolaryngology, The First Affiliated Hospital of Sun Yat-sen University between 2005 and 2015 were analyzed and presented. Three male patients from 45 to 63 years presented with nasopharyngeal masses...
July 26, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28740564/can-diffusion-weighted-imaging-aid-in-differentiating-benign-from-malignant-sinonasal-masses-a-useful-adjunct
#11
Abanti Das, Ashu S Bhalla, Raju Sharma, Atin Kumar, Alok Thakar, Sreenivas M Vishnubhatla, Mehar C Sharma, Suresh C Sharma
BACKGROUND: To evaluate the role of diffusion weighted imaging (DWI) and apparent diffusion coefficient (ADC) values at 3 Tesla in characterizing sinonasal masses. MATERIAL/METHODS: After ethical clearance, 79 treatment naive patients with head and neck masses underwent magnetic resonance imaging (MRI), including DWI at 3 Tesla using the following b values - 0, 500 and 1000 s/mm(2). Thirty-one patients were found to have sinonasal tumours and were subsequently analysed...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#12
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28714226/extranasopharyngeal-angiofibroma-revisited
#13
Jochen P Windfuhr, Julia Vent
BACKGROUND: Angiofibromas in the head and neck region usually arise in the nasopharynx, but may also occur elsewhere. This study aims at evaluating the incidence and clinical features of extranasopharyngeal angiofibroma (ENA). MATERIAL AND METHODS: Systematic review of the literature (Medline(®) and Google(™) ) up to December 31(st) , 2015. RESULTS: 174 cases of ENA were retrieved from a total of 170 publications. In contrast to former publications and previous understanding, the nasal septum was by far the most common site of the disease...
July 17, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28707818/inhibition-of-fibroblast-growth-factor-receptor-with-azd4547-mitigates-juvenile-nasopharyngeal-angiofibroma
#14
Tran Le, Jacob New, Joel W Jones, Shireen Usman, Sreeya Yalamanchali, Ossama Tawfik, Larry Hoover, Dan E Bruegger, Sufi Mary Thomas
BACKGROUND: Juvenile nasopharyngeal angiofibroma (JNA) is a benign tumor that presents in adolescent males. Although surgical excision is the mainstay of treatment, recurrences complicate treatment. There is a need to develop less invasive approaches for management. JNA tumors are composed of fibroblasts and vascular endothelial cells. We identified fibroblast growth factor receptor (FGFR) and vascular endothelial growth factor (VEGF) expression in JNA-derived fibroblasts. FGFR influences fibroblast proliferation and VEGF is necessary for angiogenesis...
July 14, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28690858/topical-rapamycin-for-facial-angiofibromas-in-tuberous-sclerosis-complex
#15
Gilles Safa
Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a case of a 27-year-old woman whose facial angiofibromas were successfully treated with topical rapamycin without relevant side effects...
July 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28683841/variable-expression-of-molecular-markers-in-juvenile-nasopharyngeal-angiofibroma
#16
REVIEW
A Mishra, A Pandey, S C Mishra
BACKGROUND: Molecular categorisation may explain the wide variation in the clinical characteristics of juvenile nasopharyngeal angiofibroma. METHODS: Variations in molecular markers in juvenile nasopharyngeal angiofibroma in an Indian population were investigated and compared with global reports. RESULTS: Variable molecular marker expression was demonstrated at the regional and global levels. A wide variation in molecular characteristics is evident...
September 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28639284/soft-tissue-angiofibroma-clinicopathologic-immunohistochemical-and-molecular-analysis-of-14-cases
#17
Elise M Bekers, Patricia Jta Groenen, Marian Aj Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie Db Gilhuijs, Joost M van Gorp, Judith Vmg Bovée, David H Creytens, Adrienne M Flanagan, Albert Jh Suurmeijer, Thomas Mentzel, Elsa Arbajian, Uta Flucke
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7-67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusion-genes (AHRR-NCOA2 and GTF2I-NCOA2) were examined using RT-PCR in order to evaluate their diagnostic value...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28632604/reassessing-the-anatomic-origin-of-the-juvenile-nasopharyngeal-angiofibroma
#18
Colin D McKnight, Hemant A Parmar, Kuanwong Watcharotone, Suresh K Mukherji
OBJECTIVE: A modern imaging review is necessary to further define the anatomic origin of the juvenile nasopharyngeal angiofibroma. METHODS: After institutional review board approval, a search from January 1998 to January 2013 yielded 33 male patients (aged 10-23 years) with pathologically proven juvenile nasopharyngeal angiofibroma lesions, as well as pretreatment computed tomography/magnetic resonance imaging. Juvenile nasopharyngeal angiofibroma involvement was assessed in the following regions: sphenopalatine foramen, pterygopalatine fossa, vidian canal, nasopharynx, nasal cavity, sphenoid sinus, choana, pterygomaxillary fissure/masticator space, orbit, and sphenoid bone...
July 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28631685/-the-transperygoid-approach-to-the-removal-of-a-recurrent-juvenile-angiofibroma-at-the-base-of-the-skull-without-preoperative-embolization
#19
N S Grachev, I N Vorozhtsov
The authors report a clinical case of successful elimination of a recurrent juvenile angiofibroma at the base of the skull (JAFBS) with the application of the optical navigation system and a cold plasma scalpel in the absence of preoperative embolization. It has been demonstrated using the proposed transperygoid approach to the extirpation of the tumour that a recurrent juvenile angiofibroma at the base of the skull can be efficiently removed by means of a modern minimally invasive and at the same time radical surgical method...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28598544/dermatological-manifestations-of-tuberous-sclerosis-complex-tsc
#20
REVIEW
Daniel Ebrahimi-Fakhari, Sascha Meyer, Thomas Vogt, Claudia Pföhler, Cornelia Sigrid Lissi Müller
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement that frequently occurs in early childhood. Dermatologic manifestations include facial angiofibromas, hypomelanotic macules, fibrous cephalic plaques, shagreen patches, and ungual fibromas. The International TSC Consensus Conference in 2012 provided guidelines for standardized baseline evaluation and follow-up. Detailed clinical dermatological evaluation at the time of diagnosis and annual skin examination is recommended for both pediatric and adult populations...
July 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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