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Fibromatosis

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https://www.readbyqxmd.com/read/28821190/fibromatosis-of-the-breast-diagnostic-accuracy-of-core-needle-biopsy
#1
M Gabriela Kuba, Susan C Lester, Catherine S Giess, Monica M Bertagnolli, Tad J Wieczorek, Jane E Brock
Objectives: Fibromatosis of the breast is an uncommon neoplasm with potential for local recurrence. Treatment has traditionally been surgical excision with current trends toward conservative management. Given the option of observation after diagnosis by core needle biopsy (CNB), we sought to evaluate the accuracy of CNB for diagnosing fibromatosis. Methods: We identified a total of 31 cases in which fibromatosis had been diagnosed or included in the differential diagnosis on a CNB, an excision, or both...
September 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28819469/aggressive-fibromatosis-of-the-oral-cavity-in-a-5-year-old-boy-a-rare-case-report
#2
Keerthi Krishnankutty Nair, Kanad Chaudhuri, Ashok Lingappa, Ranjani Shetty, Pramod Gujjar Vittobarao
Fibrous tissue proliferations express a wide spectrum of histologic and morphologic variation in both infants and adults. This ranges from hypertrophic scar formation at one end to malignant fibrosarcoma at the other end of the spectrum. Aggressive fibromatosis is an intermediate tumor which is in proximity to fibrosarcomas. These are locally invasive and often recur after excision, but do not metastasize. Histologically, they are characterized by proliferating fibroblasts with little mitotic activity. Aggressive fibromatosis in the head and neck region is not common, and very sporadically occurs in the oral cavity or jaw bones...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28812409/tumor-reduction-and-symptom-relief-after-electrochemotherapy-in-a-patient-with-aggressive-fibromatosis-a-case-report
#3
Joanna Vitfell-Rasmussen, Rikke Mulvad Sandvik, Karin Dahlstrøm, Gina Al-Farra, Anders Krarup-Hansen, Julie Gehl
No abstract text is available yet for this article.
August 16, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28810297/-clinical-and-pathologic-features-of-extrapleural-sarcomatoid-mesothelioma
#4
M C Wei, S J Yang
Objective: To investigate the morphological features, diagnosis and differential diagnosis of extrapleural sarcomatoid malignant mesothelioma (SMM). Methods: Six cases of extrapleural SMM were evaluated for their clinical, histological, immunohistochemical features, and prognosis. Results: Patients included 3 men and 3 women, with a median age of 60 years (range 41-75 years). All patients had no asbestos exposure in history and no pleural lesions. The tumors involved peritoneum (3 cases), bone (2 cases), and neck soft tissue (1 case)...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28794344/papillary-thyroid-carcinoma-with-desmoid-type-fibromatosis-a-clinical-pathological-and-immunohistochemical-study-of-14-cases
#5
Nami Takada, Mitsuyoshi Hirokawa, Masahiro Ito, Aki Ito, Ayana Suzuki, Miyoko Higuchi, Seiji Kuma, Toshitetsu Hayashi, Masao Kishikawa, Shuichi Horikawa, Akira Miyauchi
Papillary thyroid carcinoma (PTC) with desmoid-type fibromatosis (DTF) is characterized by genetic alterations of the fibroblasts. However, PTC-DTF is extremely rare, and the reports on such cases have been sporadic. Immunohistochemical staining using the antibody for beta-catenin is useful in diagnosing the variant. This report aims to describe the clinical, pathological, and immunohistochemical findings in 14 cases of PTC-DTF and to clarify the diagnostic significance of the variant. The patients included 9 women and 5 men, with a mean age of 49...
August 10, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28767596/duodenum-derived-fibromatosis-that-invaded-the-muscular-layer-of-intestinal-wall-a-rare-case-report
#6
Jiannan Li, Hanxiang Le, Wei Chai, Yan Zhou, Lifang Jin, Tongjun Liu, Kai Zhang
RATIONALE: Intraabdominal fibromatosis is a rare benign tumor that often affects the mesentery or retroperitoneum, and can infiltrate adjacent organs. However, it is rare for fibromatosis to arise from the small intestinal wall. PATIENT CONCERNS: A 27-year-old female with a tangible abdominal tumor is described. DIAGNOSES: The computed tomography (CT) scan revealed a 7.5 cm, small intestine-associated tumor in the right abdomen. INTERVENTIONS: The patient received tumor resection and intestinal anastomosis...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28751104/myofibroblastic-fibroblastic-and-myoid-lesions-of-the-breast
#7
REVIEW
Gregor Krings, Patrick McIntire, Sandra J Shin
Myofibroblastic, fibroblastic and/or myoid lesions are rare in the breast but comprise the majority of mammary mesenchymal spindle cell lesions. Whereas most have similar features to their counterparts at extramammary sites, pseudoangiomatous stromal hyperplasia is considered a breast-specific myofibroblastic proliferation on the same spectrum as myofibroblastoma. Other lesions with myofibroblastic/fibroblastic differentiation include fibromatosis and nodular fasciitis, as well as more aggressive tumors such as the rarely reported myofibrosarcoma, inflammatory myofibroblastic tumor and fibrosarcoma...
May 28, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28735069/surgical-versus-non-surgical-approach-in-primary-desmoid-type-fibromatosis-patients-a-nationwide-prospective-cohort-from-the-french-sarcoma-group
#8
Nicolas Penel, Axel Le Cesne, Sylvie Bonvalot, Antoine Giraud, Emmanuelle Bompas, Maria Rios, Sébastien Salas, Nicolas Isambert, Pascaline Boudou-Rouquette, Charles Honore, Antoine Italiano, Isabelle Ray-Coquard, Sophie Piperno-Neumann, François Gouin, François Bertucci, Thomas Ryckewaert, Jean-Emmanuel Kurtz, Françoise Ducimetiere, Jean-Michel Coindre, Jean-Yves Blay
PURPOSE: The outcome of desmoid-type fibromatosis (DTF) is unpredictable. Currently, a wait-and-see approach tends to replace large en bloc resection as the first therapeutic approach. Nevertheless, there are no validated factors to guide the treatment choice. METHOD: We conducted a prospective study of 771 confirmed cases of DTF. We analysed event-free survival (EFS) based on the occurrence of relapse after surgery, progressive disease during the wait-and-see approach, or change in therapeutic strategy...
July 20, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28731043/gastroblastoma-harbors-a-recurrent-somatic-malat1-gli1-fusion-gene
#9
Rondell P Graham, Asha A Nair, Jaime I Davila, Long Jin, Jin Jen, William R Sukov, Tsung-Teh Wu, Henry D Appelman, Jorge Torres-Mora, Kyle D Perry, Lizhi Zhang, Sara M Kloft-Nelson, Ryan A Knudson, Patricia T Greipp, Andrew L Folpe
Gastroblastoma is a rare distinctive biphasic tumor of the stomach. The molecular biology of gastroblastoma has not been studied, and no affirmative diagnostic markers have been developed. We retrieved two gastroblastomas from the consultation practices of the authors and performed transcriptome sequencing on formalin-fixed paraffin-embedded tissue. Recurrent predicted fusion genes were validated at genomic and RNA levels. The presence of the fusion gene was confirmed on two additional paraffin-embedded cases of gastroblastoma...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28686854/rest-final-exon-truncating-mutations-cause-hereditary-gingival-fibromatosis
#10
Yavuz Bayram, Janson J White, Nursel Elcioglu, Megan T Cho, Neda Zadeh, Asuman Gedikbasi, Sukru Palanduz, Sukru Ozturk, Kivanc Cefle, Ozgur Kasapcopur, Zeynep Coban Akdemir, Davut Pehlivan, Amber Begtrup, Claudia M B Carvalho, Ingrid Sophie Paine, Ali Mentes, Kivanc Bektas-Kayhan, Ender Karaca, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski
Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#11
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
#12
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 labeled as fibroblastic connective tissue nevus (FCTN). METHODS AND RESULTS: Total of 8 patients were male and 5 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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