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https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#1
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632950/fibroblastic-connective-tissue-nevus-clinicopathological-and-immunohistochemical-study-of-14-cases
#2
Ilaria Pennacchia, Heinz Kutzner, Dmitry V Kazakov, Thomas Mentzel
BACKGROUND: We present herein a series of 14 lesions showing overlapping features with the newly defined benign cutaneous mesenchymal neoplasm labelled as fibroblastic connective tissue nevus (FCTN). METHODS AND RESULTS: Eight patients were male and five were female, ranging in age from 1 to 56 years. Lesions appeared as isolated nodules or plaques on the trunk (7 cases), the limbs (4 cases) and the neck (2 cases). Histologically, all cases were composed of bundles of bland spindle cells of fibroblastic/myofibroblastic lineage irregularly branching within the reticular dermis and along fibrous septa in the subcutis...
June 20, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28630763/malignant-tumours-of-the-foot-and-ankle
#3
E Mascard, N Gaspar, L Brugières, C Glorion, S Pannier, A Gomez-Brouchet
Most of tumours of the foot are tumour-like (synovial cyst, foreign body reactions and epidermal inclusion cyst) or benign conditions (tenosynovial giant cells tumours, planta fibromatosis). Malignant tumours of the soft-tissue and skeleton are very rare in the foot and their diagnosis is often delayed with referral to specialised teams after initial inappropriate procedures or unplanned excisions. The adverse effect of these misdiagnosed tumours is the increasing rate of amputation or local recurrences in the involved patients...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28627792/%C3%AE-catenin-in-desmoid-type-fibromatosis-deep-insights-on-the-role-of-t41a-and-s45f-mutations-on-protein-structure-and-gene-expression
#4
C Colombo, A Belfiore, N Paielli, L De Cecco, S Canevari, E Laurini, M Fermeglia, S Pricl, P Verderio, S Bottelli, M Fiore, S Stacchiotti, E Palassini, A Gronchi, S Pilotti, F Perrone
Desmoid- type fibromatosis (DF) is a rare mesenchymal lesion with high risk of local recurrence. Specific β-catenin mutations (S45F) appeared to be related to this higher risk compared to T41A mutated or wild type (WT). We explored the influence of both mutations and WT on structure stability and affinity of β-catenin for α-catenin and the pattern of gene expression that may influence DF behavior. Using 33 surgically resected primary DFs harboring T41A (n=14), S45F (n=10) or WT (n=9), we performed a comparative molecular analysis by protein/protein interaction modeling, gene expression by DASL microarrays, human inflammation gene panel and assessment of immune system-based biomarkers by immunohistochemistry...
June 19, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28604699/cmg2-antxr2-regulates-extracellular-collagen-vi-which-accumulates-in-hyaline-fibromatosis-syndrome
#5
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F Gisou van der Goot
Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promotes accumulation of collagen VI in patients, leading in particular to nodule formation. Similarly, collagen VI accumulates massively in uteri of Antxr2(-/-) mice, which do not display changes in collagen gene expression, and leads to progressive fibrosis and sterility...
June 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28588785/sporadic-giant-intra-abdominal-desmoid-tumor-a-radiological-case-report
#6
Karla Kovačević, Dragica Obad-Kovačević, Jelena Popić-Ramač
Desmoid tumor (DT) is a locally invasive form of fibromatosis, comprising only 0.03% of all tumors. DTs occur more frequently in patients with familial adenomatous polyposis and Gardner's syndrome, as intra-abdominal or anterior abdominal wall tumors, whereas sporadic DTs are more likely to be extra-abdominal (only 5% of sporadic DTs are intra-abdominal). There is also an association of DTs with prior trauma, surgery, estrogen exposure and childbirth. Imaging studies, such as computed tomography (CT) and magnetic resonance imaging (MRI) are used for preoperative diagnosis and for the planning of the surgery...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28578783/biology-and-treatment-of-aggressive-fibromatosis-or-desmoid-tumor
#7
REVIEW
Keith M Skubitz
Aggressive fibromatosis, also known as desmoid-type fibromatosis (DTF) or desmoid tumor, is an uncommon locally invasive tumor. Because of its low incidence and variable behavior, DTF is often first seen by physicians who are not familiar with it, and recent advances in understanding this disease have led to changes in treatment approaches. The Wnt (β-catenin) pathway appears to play a key role in DTF pathogenesis, and recent studies of DTF biology suggest a possible model of DTF pathogenesis. Histologically, DTF shows a poorly circumscribed proliferation of myofibroblast-like cells with variable collagen deposition, similar to the proliferative phase of wound healing, and DTF has been associated with trauma and pregnancy...
June 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28570749/comparison-of-sporadic-and-fap-associated-desmoid-type-fibromatoses
#8
Laura Koskenvuo, Ari Ristimäki, Anna Lepistö
BACKGROUND AND OBJECTIVES: Desmoid-type fibromatosis is a rare disease of which 7.5-16% have been reported to be related to familial adenomatous polyposis (FAP). We sought to compare the characteristics and treatment of sporadic and FAP-related desmoid-type fibromatoses. METHODS: Altogether 220 patients were included in the study after receiving a diagnosis of desmoid-type fibromatosis by the Pathology Department of Helsinki University Hospital, with adequate follow-up...
June 1, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28515694/fam20a-gene-mutation-amelogenesis-or-ectopic-mineralization
#9
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of enamel peptides and thus enamel mineralization. Here, we characterized the structure and chemical composition of unerupted tooth enamel from ERS patients and healthy subjects. Methods: Tooth sections were analyzed by Scanning Electron Microscopy (SEM), Energy Dispersive Spectroscopy (EDS), X-Ray Diffraction (XRD), and X-Ray Fluorescence (XRF)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28509377/h3-1-k36m-mutation-in-a-congenital-onset-soft-tissue-neoplasm
#10
Kristin D Kernohan, David Grynspan, Raveena Ramphal, Eric Bareke, You Chang Wang, Elizabeth Nizalik, Jiannis Ragoussis, Nada Jabado, Kym M Boycott, Jacek Majewski, Sarah L Sawyer
We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p...
May 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28502899/the-expression-of-p450-genes-mediating-fenpropathrin-resistance-is-regulated-by-cncc-and-maf-in-tetranychus-cinnabarinus-boisduval
#11
Li Shi, Mengyao Wang, Yichao Zhang, Guangmao Shen, Haishan Di, Yue Wang, Lin He
Although overexpression of genes encoding detoxification enzymes is a well-known mechanism of pesticide resistance of mites, the regulators involved in this process are still illiterate. Previous studies in our laboratory demonstrated that the overexpression of six P450 genes contributes to fenpropathrin resistance in T. cinnabarinus. In this study, six transcription factor genes that likely regulate the expression of P450 genes were identified and characterized. Quantitative PCR (qPCR) analysis showed that three transcription factor genes were highly expressed in a fenpropathrin-resistant (FeR) strain of T...
May 11, 2017: Comparative Biochemistry and Physiology. Toxicology & Pharmacology: CBP
https://www.readbyqxmd.com/read/28469831/hereditary-gingival-fibromatosis-characteristics-and-treatment-approach
#12
Pedro J Almiñana-Pastor, Pedro J Buitrago-Vera, Francisco M Alpiste-Illueca, Montserrat Catalá-Pizarro
Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by a benign, non-hemorrhagic, fibrous gingival overgrowth that can appear in isolation or as part of a syndrome. Clinically, a pink gingiva with marked stippling can be seen to cover almost all the tooth, in many cases preventing eruption. HGF usually begins during the transition from primary to permanent teeth, giving rise to a condition that can have negative psychological effects at that age. As it does not resolve spontaneously, the treatment of choice is gingivectomy, which can be performed with an internal or external bevel incision, depending on each case and bearing in mind the changes that will take place at the dentogingival junction (DGJ)...
April 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28462604/desmoplastic-fibroma-versus-soft-tissue-desmoid-tumour-of-forearm-a-case-series-of-diagnosis-surgical-approach-and-outcome
#13
K Jamshidi, A Bagherifard, A Mirzaei
We report a case series of aggressive fibromatosis of the forearm and discuss the differentiation criteria of overlapped intra- or extra-osseous origin of aggressive fibromatosis, surgical approach, and outcome. Ten cases of aggressive fibromatosis of the forearm were evaluated. When there was no involvement of vital adjacent structures, such as nerves, vessels, and tendons, en-bloc excision was performed for the removal of the soft-tissue mass. Bone involvement was observed in nine cases. Intercalary allograft was performed whenever one of the forearm bones was involved (six cases), while extensive curettage was used if both forearm bones were affected (three cases)...
April 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28439797/desmoid-type-fibromatosis-who-when-and-how-to-treat
#14
REVIEW
Javier Martínez Trufero, Isabel Pajares Bernad, Irene Torres Ramón, Jorge Hernando Cubero, Roberto Pazo Cid
Desmoid-type fibromatosis is a sarcoma subtype that gathers some singular characteristics, making it a difficult challenge to face in clinical practice. Despite its excellent survival prognosis, these tumors may be unpredictable, ranging from an asymptomatic indolent course to persistent, local, and extended recurrences that significantly impair quality of life. Although surgery was initially considered the first elective treatment, collected published data during the past few years are now pointing to the "wait and see" approach as a reasonable initial strategy because many patients can live a long life with the disease without having symptoms...
May 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28439607/late-metastatic-endometrial-carcinoma-at-the-repair-site-of-an-abdominal-wall-incisional-hernia
#15
Abdul-Wahed N Meshikhes, Suha H Al-Badr, Ehsan A Sulais, Hibba M Al-Qudaihi
The abdominal wall is a very rare site for endometrial cancer metastases. Its appearance generally indicates advanced cancer with poor prognosis. We report a case of a 55-year-old female who presented with an incisional hernia 4 years after abdominal panhysterectomy for endometrioid adenocarcinoma in 2009. Open hernia mesh repair was performed but on follow-up, she complained of pain and a swelling at the repair site. This was radiologically diagnosed as fibromatosis, but tru-cut biopsy confirmed presence of fibromatosis as well as a metastatic endometrial carcinoma...
May 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28433619/lack-of-pathogenic-mutations-in-sos1-gene-in-phenytoin-induced-gingival-overgrowth-patients
#16
Katia Margiotti, Giulia Pascolini, Federica Consoli, Valentina Guida, Carlo Di Bonaventura, Anna Teresa Giallonardo, Antonio Pizzuti, Alessandro De Luca
OBJECTIVE: Gingival overgrowth is a side effect associated with some distinct classes of drugs, such as anticonvulsants, immunosuppressants, and calcium channel blockers. One of the main drugs associated with gingival overgrowth is the antiepileptic phenytoin, which affects gingival tissues by altering extracellular matrix metabolism. It has been shown that mutation of human SOS1 gene is responsible for a rare hereditary gingival fibromatosis type 1, a benign gingival overgrowth. The aim of the present study is to evaluate the possible contribution of SOS1 mutation to gingival overgrowth-related phenotype...
August 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28425619/analysis-of-mutations-in-the-sos-1-gene-in-two-polish-families-with-hereditary-gingival-fibromatosis
#17
K Gawron, G Bereta, Z Nowakowska, K Łazarz-Bartyzel, J Potempa, M Chomyszyn-Gajewska, R Górska, P Plakwicz
OBJECTIVES: To establish whether two families from Malopolska and Mazovia provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. MATERIAL AND METHODS: Six subjects with hereditary gingival fibromatosis and five healthy subjects were enrolled in the study. Gingival biopsies were collected during gingivectomy or tooth extraction and used for histopathological evaluation...
April 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28420393/medical-treatment-of-mammary-desmoid-type-fibromatosis-which-benefit
#18
Louise Scheer, Massimo Lodi, Sébastien Molière, Jean-Emmanuel Kurtz, Carole Mathelin
BACKGROUND: Breast fibromatosis is a rare disease characterized by monoclonal fibroblast proliferation. It has no ability to metastasize but has a high local recurrence rate and often infiltrates surrounding tissues. Surgical treatment is the reference, but recently, new targeted therapies have emerged. We report an original case of a patient with breast fibromatosis who received exclusive medical treatment. Our aim was to analyze these treatments based on the clinical and radiological outcome, iatrogenic effects, and pharmacological action...
April 18, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28417531/desmoid-type-fibromatosis-in-a-boy-with-down-syndrome
#19
Hisashi Ishida, Kousuke Chayama, Kiichiro Kanamitsu, Kana Washio, Takehiro Tanaka, Akira Shimada
Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β-catenin pathway...
May 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28413398/desmoid-fibromatosis-of-the-abdominal-wall-surgical-resection-and-reconstruction-with-biological-matrix-egis-%C3%A2
#20
Saveria Tropea, Simone Mocellin, Roberto Stramare, Maria Giuseppina Bonavina, Carlo Riccardo Rossi, Marco Rastrelli
Desmoid tumor is a rare monoclonal fibroblast proliferation that is regarded as benign. The clinical management of desmoid tumors is very complex and requires a multidisciplinary approach because of the unpredictable disease course. For those cases localized in the anterior abdominal wall, symptomatic and unresponsive to medical treatment, radical resection and reconstruction with a prosthetic device are indicated. We present here a case of desmoid fibromatosis of the left anterolateral abdominal wall with a marked increase of the mass that required a large excision followed by reconstruction with biological matrix...
January 2017: Case Reports in Oncology
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