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Fibromatosis

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https://www.readbyqxmd.com/read/28350521/clinical-activity-of-the-%C3%AE-secretase-inhibitor-pf-03084014-in-adults-with-desmoid-tumors-aggressive-fibromatosis
#1
Shivaani Kummar, Geraldine O'Sullivan Coyne, Khanh T Do, Baris Turkbey, Paul S Meltzer, Eric Polley, Peter L Choyke, Robert Meehan, Rasa Vilimas, Yvonne Horneffer, Lamin Juwara, Ann Lih, Amul Choudhary, Sandra A Mitchell, Lee J Helman, James H Doroshow, Alice P Chen
Purpose Desmoid tumors (aggressive fibromatosis) arise from connective tissue cells or fibroblasts. In general, they are slow growing and do not metastasize; however, locally aggressive desmoid tumors can cause severe morbidity and loss of function. Disease recurrence after surgery and/or radiation and diagnosis of multifocal desmoid tumors highlight the need to develop effective systemic treatments for this disease. In this study, we evaluate objective response rate after therapy with the γ-secretase inhibitor PF-03084014 in patients with recurrent, refractory, progressive desmoid tumors...
March 28, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28334642/partial-fasciectomy-is-a-useful-treatment-option-for-symptomatic-plantar-fibromatosis
#2
Haji Khairul Abd Kadir, Coonoor R Chandrasekar
Plantar fibromatosis is a rare, benign fibroproliferative disorder of the plantar fascia. It is considered as a low-grade tumour and it can be locally aggressive. It can present as painful swelling with impairment of local function. Upon failure of non-operative management, surgical treatment options include total fasciectomy or partial fasciectomy. Although surgical excision is the mainstay of treatment, recurrence rate can be up to 60%. The aim of this study was to determine the recurrence and complication rates of surgically treated plantar fibromatosis...
February 21, 2017: Foot
https://www.readbyqxmd.com/read/28327422/abdominal-wall-reconstruction-after-desmoid-type-fibromatosis-radical-resection-case-series-from-a-single-institution-and-review-of-the-literature
#3
S D Couto Netto, F Teixeira, C A M Menegozzo, A Albertini, E H Akaishi, E M Utiyama
BACKGROUND: Abdominal wall desmoid type fibromatosis management has been changing over recent years, from an aggressive approach towards a more conservative one. When radical resection is indicated, the surgical team faces the challenge of abdominal wall reconstruction, for which optimal technique is still debated. The present study reports the experience from a single center with abdominal closures after desmoid type fibromatosis resection. MATERIAL AND METHODS: Retrospective analysis of patients who underwent abdominal wall closure after sporadic abdominal desmoid type fibromatosis radical resection from 1982 to 2013...
March 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#4
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28275596/an-unusual-location-of-fibrous-hamartoma-of-infancy-in-the-eyelid
#5
Ofira Zloto, Sarit Aviel-Ronen, Mordechai Rosner
AIM: To describe the clinical, imaging, and histopathological features of fibrous hamartoma of infancy (FHI) in the eyelid, a rare differential diagnosis for eyelid lesions. METHODS: We describe the case of a 7-month-old patient with a FHI in the eyelid that was diagnosed after surgical removal. The unique histopathological appearance of the triphasic histologic components provided the diagnosis. CONCLUSIONS: FHI is included in the long list of differential diagnosis for eyelid lesions in infancy...
January 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/28248815/recurrent-srf-rela-fusions-define-a-novel-subset-of-cellular-myofibroma-myopericytoma-a-potential-diagnostic-pitfall-with-sarcomas-with-myogenic-differentiation
#6
Cristina R Antonescu, Yun-Shao Sung, Lei Zhang, Narasimhan P Agaram, Christopher D Fletcher
Cellular myofibroblastic tumors other than desmoid-type fibromatosis are often diagnostically challenging due to their relative rarity, lack of known genetic abnormalities, and expression of muscle markers which may be confused with sarcomas with myogenic differentiation. In this study we investigate the molecular alterations of a group of cellular myofibroblastic lesions with in the myofibroma and myopericytoma spectrum for better subclassification. Two index cases were studied by paired-end RNA sequencing for potential fusion gene discovery...
February 28, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28199014/meta-analysis-of-the-influence-of-surgical-margin-and-adjuvant-radiotherapy-on-local-recurrence-after-resection-of-sporadic-desmoid-type-fibromatosis
#7
REVIEW
M L Janssen, D L M van Broekhoven, J M M Cates, W M Bramer, J J Nuyttens, A Gronchi, S Salas, S Bonvalot, D J Grünhagen, C Verhoef
BACKGROUND: Extra-abdominal desmoid-type fibromatosis (DF) is a rare, locally aggressive neoplasm that is usually managed conservatively. When treatment is indicated, it typically involves surgical resection, possibly with adjuvant radiotherapy. The indications for postoperative radiotherapy and its effectiveness are unclear. The objective of this study was to estimate the effect of surgical resection margins and adjuvant radiotherapy on rates of recurrence of DF. METHODS: Literature published between 1999 and 2015 was extracted from MEDLINE, Embase, Cochrane Central Registry of Trials, Web of Science and Google Scholar...
March 2017: British Journal of Surgery
https://www.readbyqxmd.com/read/28182064/myofibromatosis-utility-of-fine-needle-aspiration-cytology-in-the-diagnosis-of-an-underreported-entity
#8
Sandhya V Poflee, Anjali N Bode, Sneha Chavarkar, Pradeep S Umap
Myofibromatosis (MFS) was recognized as a distinct form of childhood fibromatosis. Infantile myofibromatosis (IMF) is now identified as a solitary or multicentric tumor that predominantly occurs in neonates and infants. The adult counterpart of IMF, though of rare occurrence, is identified and is known as MFS. Morphological diagnosis of MFS is made by histopathological examination of the biopsy or surgically excised mass and confirmed on the basis of specific immunoprofile. We report a case of multicentric MFS occurring in an adolescent in whom diagnosis was suggested on the basis of fine needle aspiration cytology (FNAC) that avoided surgical excision of multiple nodules...
January 2017: Journal of Cytology
https://www.readbyqxmd.com/read/28173672/-fibromatosis-like-metaplastic-carcinoma-of-breast-a-clinicopathological-analysis-of-3-cases
#9
M Li, J B Lu, P Sun, R Z Luo, J H He
No abstract text is available yet for this article.
February 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28171221/the-significance-of-electron-microscopic-examination-of-gingiva-in-cases-of-hunter-syndrome-and-hereditary-gingival-fibromatosis
#10
Michal Straka, Lubos Danisovic, Vladimir Bzduch, Stefan Polak, Ivan Varga
INTRODUCTION: Electron microscopy has been for decades a basic morphological method still used in diagnostic protocols of some pathological conditions affecting the ultrastructure of cells and extracellular matrix. The aim of this study was an ultrastructural description of gingiva of patients with Hunter syndrome and hereditary gingival fibromatosis. PATIENTS AND METHODS: Gingival biopsies were obtained during surgical periodontal treatment from a 9-year-old boy with Hunter disease (with enzyme replacement therapy with recombinant human idursulphase) and a 15-year-old girl with hereditary gingival fibromatosis...
October 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28149737/endoscopic-subtotal-fasciectomy-of-the-foot
#11
Tun Hing Lui
Plantar fibromatosis is a rare benign but often locally aggressive tumor of the plantar aponeurosis. Nonsurgical treatment is the first line of treatment for symptomatic lesions. Because of the high recurrence rate associated with surgical treatment, operation is indicated only when the lesions are highly symptomatic and conservative measures fail or the diagnosis is in question. The purpose of this technical note is to report the details of endoscopic subtotal fasciectomy. This may reduce the risks of skin necrosis and dehiscence, infection, and formation of painful hypertrophic scars...
December 2016: Arthroscopy Techniques
https://www.readbyqxmd.com/read/28148224/erratum-to-diagnosis-implications-of-the-whole-genome-sequencing-in-a-large-lebanese-family-with-hyaline-fibromatosis-syndrome
#12
Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jithesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane, André Mégarbané
No abstract text is available yet for this article.
February 1, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28133149/-a-case-of-mesenteric-fibromatosis-after-robot-assisted-total-gastrectomy-for-gastric-cancer
#13
Makoto Nakai, Toshiyuki Tazawa, Naoki Wajima, Takahiro Muroya, Katsuya Mikami, Kenichi Hakamada
The patient underwent robot-assisted total gastrectomy for an early gastric cancer. Thirty-four months later, he was admitted to another hospital because of abdominal discomfort. Computed tomography scans showed a giant solid mass approximately 13 cm in diameter in the lower abdomen. We performed a resection of the tumor; operative findings showed a giant solid tumor, without adhesion, in the mesentery of the jejunum. The tumor did not involve other parts of the small intestine. The resected tumor had a smooth surface with an elastic hard consistency...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28103792/diagnosis-implications-of-the-whole-genome-sequencing-in-a-large-lebanese-family-with-hyaline-fibromatosis-syndrome
#14
Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jitesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane, André Mégarbané
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions...
January 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28099210/pazopanib-a-promising-option-for-the-treatment-of-aggressive-fibromatosis
#15
Zoltan Szucs, Christina Messiou, Han Hsi Wong, Helen Hatcher, Aisha Miah, Shane Zaidi, Winette T A van der Graaf, Ian Judson, Robin L Jones, Charlotte Benson
Desmoid tumour/aggressive fibromatosis (DT/AF) is a rare soft-tissue neoplasm that is locally aggressive but does not metastasize. There is no standard systemic treatment for symptomatic patients, although a number of agents are used. Tyrosine kinase inhibitors have recently been reported to show useful activity. We reviewed our bi-institutional (Royal Marsden Hospital, Cambridge University Hospitals) experience with the tyrosine kinase inhibitor pazopanib in the treatment of progressing DT/AF. Eight patients with DT/AF were treated with pazopanib at Royal Marsden Hospital and Cambridge University Hospitals between June 2012 and June 2016...
April 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28044201/radiotherapy-in-desmoid-tumors-treatment-response-local-control-and-analysis-of-local-failures
#16
Kirsi Santti, Annette Beule, Laura Tuomikoski, Mikko Rönty, Anna-Stina Jääskeläinen, Kauko Saarilahti, Hanna Ihalainen, Maija Tarkkanen, Carl Blomqvist
BACKGROUND: Desmoid tumors (aggressive fibromatosis) are rare soft tissue tumors which frequently recur after surgery. Desmoid tumors arise from musculoaponeurotic tissue in the extremities, head and neck, abdominal wall, or intra-abdominally. Our aim was to examine the outcome of radiotherapy of desmoid tumors in a single institution series. PATIENTS AND METHODS: We evaluated 41 patients with desmoid tumors treated with 49 radiotherapies between 1987 and 2012...
April 2017: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
https://www.readbyqxmd.com/read/28027119/comparison-of-%C3%AE-catenin-and-lef1-immunohistochemical-stains-in-desmoid-type-fibromatosis-and-its-selected-mimickers-with-unexpected-finding-of-lef1-positivity-in-scars
#17
Youran Zou, Yaxia Zhang, James Church, Xiuli Liu
β-catenin immunohistochemical stain can be useful in the diagnosis of many tumors including desmoid-type fibromatosis (DTF). Lymphoid enhancer-factor 1 (LEF1), a recently emerged marker, is part of the Wnt pathway with β-catenin but has not been studied in DTF. We performed LEF1 and β-catenin immunohistochemistry in DTF (n=26), superficial fibromatosis (n=19), sclerosing mesenteritis (n=12), gastrointestinal stromal tumor (n=17), and cutaneous scar (n=14) using tissue microarray and whole sections. The staining intensity was scored as strong (visible at ×2 objective, value of 3), moderate (visible at ×4, value of 2), weak (visible at ×10, value of 1), and negative (not visible at ×10, value of 0)...
December 23, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28007018/pregnancy-after-abdominal-wall-mesh-repair-in-desmoid-fibromatosis
#18
Jennifer Kwan, Paul S Rooney, Coonoor R Chandrasekar
No abstract text is available yet for this article.
December 22, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28005643/fibromatosis-associated-with-neuromuscular-choristoma-evaluation-by-fdg-pet-ct
#19
Stephen M Broski, Benjamin M Howe, Robert J Spinner, Kimberly K Amrami
Neuromuscular choristoma (NMC) is a rare benign peripheral nerve lesion consisting of mature skeletal muscle fibers admixed with nerve fascicles. Aggressive fibromatosis frequently develops in association with NMC, often after surgery or biopsy, but the exact pathogenesis is not known. We present a case of NMC complicated by aggressive fibromatosis evaluated by F-FDG PET/CT and examine the relationship of metabolic activity and MRI signal characteristics.
March 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28002162/plantar-fascial-fibromatosis-two-cases-treated-with-low-energy-focused-shock-waves
#20
Antonio Frizziero, Michele Barazzuol, Filippo Vittadini, Giulia Bellon, Stefano Masiero, Andrea Meneghini
No abstract text is available yet for this article.
January 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
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