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Fibromatosis

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https://www.readbyqxmd.com/read/29901254/novel-intra-genic-large-deletions-of-ctnnb1-gene-identified-in-wt-desmoid-type-fibromatosis
#1
Chiara Colombo, Milena Urbini, Annalisa Astolfi, Paola Collini, Valentina Indio, Antonino Belfiore, Nicholas Paielli, Federica Perrone, Giuseppe Tarantino, Elena Palassini, Marco Fiore, Andrea Pession, Silvia Stacchiotti, Maria Abbondanza Pantaleo, Alessandro Gronchi
A wait and see approach for desmoid tumors (DT) has become part of the routine treatment strategy. However, predictive factors to select the risk of progressive disease are still lacking. A translational project was run in order to identify genomic signatures in patients enrolled within an Italian prospective observational study. Among 12 DT patients (ten CTNNB1-mutated and two WT) enrolled from our Institution only two patients (17%) showed a progressive disease. Tumor biopsies were collected for whole exome sequencing...
June 14, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29881291/a-large-and-aggressive-fibromatosis-in-the-axilla-a-rare-case-report-and-review-of-the-literature
#2
Mingyue Duan, Hua Xing, Keren Wang, Chunbo Niu, Chengwei Jiang, Lijuan Zhang, Shereen Ezzat, Le Zhang
Aggressive fibromatosis (AF) is a rare benign tumor, which occurs in the deep part of bone and muscle fibrous tissue. Clinical and pathological features can be challenging for definitive diagnosis. Here, we report a rare case of a large AF in the axilla. Interestingly, 18 F-fluorodeoxyglucose-positron emission tomography/computed tomography showed significant increase in standard uptake value. Surgical resection yielded a spindle cell tumor likely of fibromatosis origin which was positive for β-catenin expression...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29880396/a-case-of-primary-squamous-cell-carcinoma-of-the-breast-with-pathologic-complete-response-after-neoadjuvant-chemotherapy
#3
Ozkan Alan, Tugba Akin Telli, Ozlem Ercelep, Rahib Hasanov, Eda Tanrikulu Simsek, Aydan Mutis, Tunc Ones, Handan Kaya, Perran Fulden Yumuk
BACKGROUND: Primary squamous cell carcinoma (SCC) of the breast is a metaplastic carcinoma subtype which includes fibromatosis-like and sarcomatoid features. This is a very aggressive tumor with poor prognosis. Other sites of primary SCC should be ruled out first to classify these tumors as primary SCC of the breast. Here we present a case of locally advanced primary SCC of the breast. CASE REPORT: A 72 years old woman presented with a right axillary lump. Trucut biopsy was performed, it showed squamous cell carcinoma...
May 9, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29879959/sporadic-abdominal-wall-desmoid-type-fibromatosis-treatment-paradigm-after-thirty-two-years
#4
S D Couto Netto, F Teixeira, C A M Menegozzo, H M Leão-Filho, A Albertini, F O Ferreira, E H Akaishi, E M Utiyama
BACKGROUND: Desmoid-type fibromatosis is a benign mesenchymal neoplastic process. It exhibits an uncertain growth pattern and high recurrence rate. Previously radical surgical resection was the mainstay of treatment, but recently more surgeons are opting for conservative management with observation ("wait and see" policy). The authors intend to evaluate different therapeutic modalities and oncological outcomes for abdominal wall desmoid tumors. METHODS: We performed a retrospective study of patients who underwent surgical, hormonal or chemotherapy treatment for abdominal wall desmoid tumors between 1982 to 2014 at two institutions affiliated with the University of São Paulo, Brazil...
June 7, 2018: BMC Surgery
https://www.readbyqxmd.com/read/29863809/evaluation-of-pan-trk-immunohistochemistry-in-infantile-fibrosarcoma-lipofibromatosis-like-neural-tumor-and-histologic-mimics
#5
Yin P Hung, Christopher D M Fletcher, Jason L Hornick
AIMS: Infantile fibrosarcoma is characterized by intersecting fascicles of spindle cells and ETV6-NTRK3 gene fusion in most cases. Given histologic overlap with other spindle-cell tumors, the diagnosis can be challenging and often requires molecular confirmation. A recently developed pan-TRK antibody shows promise for identifying tumors with NTRK fusions. The purpose of this study was to evaluate the potential diagnostic utility of pan-TRK immunohistochemistry for infantile fibrosarcoma...
June 4, 2018: Histopathology
https://www.readbyqxmd.com/read/29850357/erosive-arthritis-fibromatosis-and-keloids-a-rare-dermatoarthropathy
#6
Fawad Aslam, Jonathan A Flug, Yousif Yonan, Shelley S Noland
Polyfibromatosis is a rare disease characterized by fibrosis manifesting in different locations. It is commonly characterized by palmar fibromatosis (Dupuytren's contracture) in variable combinations with plantar fibromatosis (Ledderhose's disease), penile fibromatosis (Peyronie's disease), knuckle pads, and keloids. There are only three reported cases of polyfibromatosis and keloids with erosive arthritis. We report one such case and review the existing literature on this rare syndrome.
2018: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29843498/successful-management-of-aggressive-fibromatosis-of-the-neck-a-case-report
#7
Özgür Mehmet Avinçsal, Hirotaka Shinomiya, Naoki Otsuki, Ryohei Sasaki, Ken-ichi Nibu
Background: Aggressive fibromatoses are histologically benign fibrous neoplasms originating from musculoaponeurotic structures throughout the body. They are locally invasive and erode adjacent vital structures. The head and neck region constitutes 7-25% of all extra-abdominal cases. Case Report: Here, we report the case of a patient with aggressive fibromatosis in the left side of the neck. While the tumor deeply invaded the scalene muscles, the lesion was successfully treated by surgery followed by radiotherapy...
May 29, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29813130/optimal-radiotherapy-strategy-for-primary-or-recurrent-fibromatosis-and-long-term-results
#8
Seo Hee Choi, Hong In Yoon, Seung Hyun Kim, Sang Kyum Kim, Kyoo-Ho Shin, Chang-Ok Suh
PURPOSE: Although locally invasive or recurrent fibromatosis is primarily treated with surgery, radiotherapy (RT) produces local control for recurrent/unresectable tumors or those with positive surgical margins. Herein, we describe our updated institutional experience with RT to treat fibromatosis. METHODS: Forty-seven patients with fibromatosis received RT between 1990 and 2015, and were followed for ≥12 months. Eight patients received RT for gross tumors, and 39 received postoperative RT after single/multiple prior surgeries...
2018: PloS One
https://www.readbyqxmd.com/read/29803344/radiation-therapy-as-an-alternative-treatment-for-desmoid-fibromatosis
#9
A M Hong, D Jones, R Boyle, P Stalley
AIM: To determine the outcome after radiation therapy for desmoid fibromatosis. MATERIALS AND METHODS: A retrospective review of 50 patients treated between 1988 and 2016 in a specialised bone and soft tissue tumour clinic. RESULTS: The median age at the time of radiation therapy was 36.8 years (range 15.1-69.0) and the median follow-up time was 51 months. Forty-three patients underwent radiation therapy as the definitive treatment with a median dose of 56 Gy (range 30-58...
May 23, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29801470/the-genetic-basis-of-hyaline-fibromatosis-syndrome-in-patients-from-a-consanguineous-background-a-case-series
#10
Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene...
May 25, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29795437/nuclear-%C3%AE-catenin-localization-and-mutation-of-the-ctnnb1-gene-a-context-dependent-association
#11
Grace Kim, Katherine C Kurnit, Bojana Djordjevic, Charanjeet Singh, Mark F Munsell, Wei-Lien Wang, Alexander J Lazar, Wei Zhang, Russell Broaddus
Although the majority of low-grade, early-stage endometrial cancer patients have good survival with surgery alone, patients who recur tend to do poorly. Identification of patients at high risk of recurrence who would benefit from adjuvant treatment or more extensive surgical staging would help optimize individualized care of endometrial cancer patients. CTNNB1 (encodes β-catenin) mutations identify a subset of low-grade, early-stage endometrial cancer patients at high risk of recurrence. Mutation of CTNNB1 exon 3 is classically associated with translocation of the β-catenin protein from the membrane to the nucleus and activation of Wnt/β-catenin signaling...
May 24, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29793920/adverse-effects-and-imaging-appearances-of-breast-implants
#12
Kathryn Faguy
Implants commonly are used to augment or reconstruct breasts but are associated with many adverse effects, both in the short term and years after implantation. This article discusses different types of breast implants and some of the common adverse effects associated with them including contracture, rupture, leakage, and infection. The clinical and imaging appearances of these adverse effects are presented. In addition, the article describes findings and recommendations regarding rare breast implant-associated adverse effects such as anaplastic large cell lymphoma and breast fibromatosis...
May 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29785261/aggressive-fibromatosis-response-to-tamoxifen-lack-of-correlation-between-mri-and-symptomatic-response
#13
M Libertini, I Mitra, W T A van der Graaf, A B Miah, I Judson, R L Jones, K Thomas, E Moskovic, Z Szucs, C Benson, C Messiou
Background: One of the commonly used systemic agents for the treatment of aggressive fibromatosis is the anti-oestrogen drug tamoxifen. However, data on efficacy and optimum methods of response assessment are limited, consisting mainly of small case series and reports. Methods: A retrospective database was used to identify consecutive patients diagnosed with aggressive fibromatosis (AF) and treated with tamoxifen plus/minus non-steroidal anti-inflammatory drugs at our tertiary referral centre between 2007 and 2014...
2018: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/29780440/an-algorithmic-approach-to-the-management-of-infantile-digital-fibromatosis-review-of-literature-and-a-case-report
#14
Elizabeth H Eypper, Johnson C Lee, Ashley J Tarasen, Maxene H Weinberg, Oluwaseun A Adetayo
Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis...
2018: Eplasty
https://www.readbyqxmd.com/read/29773427/microphthalmia-associated-transcription-factor-mitf-promiscuous-staining-patterns-in-fibrohistiocytic-lesions-is-a-potential-pitfall
#15
Sambit K Mohanty, Shivani Sharma, Dinesh Pradhan, Shivani R Kandukuri, Navid Farahani, Catherine Barry, Julie M Wu, David Frishberg, Bonnie Balzer
Microphthalmia-associated transcription factor (MiTF) is used as a marker of melanocytic differentiation. However, MiTF immunoexpression has also been observed in histiocytes, macrophages, smooth muscle cells and fibroblasts, which raise the concern of fibrohistiocytic (FH) lesions being misdiagnosed as melanoma based on MiTF immunoreactivity. MiTF has been known to be positive in FH tumors, but this is the first study evaluating ninety-three fibrohistiocytic neoplasms to understand and delineate the staining pattern of MiTF in these tumors...
May 11, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#16
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29744326/right-sided-pseudotumor-sternocleidomastoid-with-left-clavicle-fracture
#17
Shilpa Prabhu, Amal Faisal Al Abdulla, Magdy Ramadan Abdulmaaboud
Here, we present a rare case of unilateral fibromatosis colli of the sternocleidomastoid in an infant with contralateral clavicle fracture after assisted vaginal delivery. We also try to reason that because of right sternocleidomastoid tension, the fracture in the right clavicle was avoided, and because of left-sided clavicle fracture, left sternocleidomastoid muscle did not form pseudotumor as there was release of tension in these muscle fibers after fracture.
April 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29740400/the-role-of-kcnq1-mutations-and-maternal-beta-blocker-use-during-pregnancy-in-the-growth-of-children-with-long-qt-syndrome
#18
Heta Huttunen, Matti Hero, Mitja Lääperi, Johanna Känsäkoski, Heikki Swan, Joel A Hirsch, Päivi J Miettinen, Taneli Raivio
Objective: Two missense mutations in KCNQ1 , an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival fibromatosis. We evaluated endocrine features, birth size, and subsequent somatic growth of patients with long QT syndrome 1 (LQT1) due to loss-of-function mutations in KCNQ1 . Design: Medical records of 104 patients with LQT1 in a single tertiary care center between 1995 and 2015 were retrospectively reviewed...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29737911/immunolocalization-of-advanced-glycation-end-products-mitogen-activated-protein-kinases-and-transforming-growth-factor-%C3%AE-smads-in-pelvic-organ-prolapse
#19
Antonella Vetuschi, Simona Pompili, Anna Gallone, Angela D'Alfonso, Maria Gabriella Carbone, Gaspare Carta, Claudio Festuccia, Eugenio Gaudio, Alessandro Colapietro, Roberta Sferra
Collagen and matrix metalloproteinases (MMP) play a pivotal role in the pathophysiology of Pelvic Organ Prolapse (POP) as a switch between type I and III collagen together with a simultaneous activation of MMPs have been observed in the vaginal wall. The aim of this study was to evaluate the Advanced Glycation End (AGE) products, ERK1/2 and transforming growth factor (TGF)-β/Smad pathway expression in muscularis propria in women with POP compared with control patients. We examined 20 patients with POP and 10 control patients treated for uterine fibromatosis...
May 1, 2018: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29734898/the-use-of-cryotherapy-to-treat-infantile-digital-fibromatosis-with-a-functional-deficit-a-case-report
#20
Aviv Kramer, Yaron Har-Shai, Isa Metanes, Hani Harel, Ronit Wollstein
Infantile Digital Fibromatosis (IDF) is a rare benign lesion that can affect the fingers, often appearing at birth or early on in life. Treatment is controversial due to a high recurrence rate following surgical excision, and the tendency of the lesions to regress or resolve completely after the age of one year. Functional loss has rarely been described. We describe a case of IDF with joint contracture and significant functional deficit that was treated with cryotherapy and post procedural occupational therapy with an excellent result...
June 2018: Journal of Hand Surgery Asian-Pacific Volume
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