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Search on : Myofibromatosis [Words]
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[PMID]: 29325250
[Au] Autor:Fu Y; Guan WY; Wu HY; Wu HY; Fan ZW; Ye Q; Meng FQ
[Ad] Address:Department of Pathology, Affiliated Drum Tower Hospital, Nanjing University Medical School, Nanjing 210008, China.
[Ti] Title:[Myofibroma/myofibromatosis: a clinicopathologic analysis of 9 cases].
[So] Source:Zhonghua Bing Li Xue Za Zhi;47(1):45-50, 2018 Jan 08.
[Is] ISSN:0529-5807
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To investigate the clinical and histological features, diagnosis and differential diagnosis of myofibroma/myofibromatosis. The clinical data and pathology features of nine cases of myofibroma/myofibromatosis were collected from August 2011 to November 2016 in Affiliated Drum Tower Hospital, Nanjing University Medical School and Children's Hospital of Nanjing Medical University. Immunohistochemistry(IHC), PDGFRB molecular analysis and ETV6-NTRK3 gene fusion were performed and relevant literature reviewed. There were 7 males and 2 females, with age ranging from 3 days to 18 years (mean 5 years). The tumors were located in head and neck (eight cases) and trunk (one case). Clinically, the tumors presented as freely movable nodules. Microscopically, they appeared biphasic with alternating light- and dark-staining areas. The light-staining area consisted mainly of plump myoid spindle cells with eosinophilic cytoplasm arranged in nodules, short fascicles, or whorls.The dark-staining area was composed of round or polygonal cells with slightly hyperchromatic nuclei or small spindle cells arranged around a distinct hemangiopericytoma-like vascular pattern. IHC showed the tumor cells in the light-staining area were strongly positive for vimentin and SMA, while cells in dark-staining area were strongly positive for vimentin, and weakly for SMA. Tumor cells were negative for desmin, S-100 protein, h-Caldesmon, CD34 and STAT6. Analysis of PDGFRB mutations was performed in seven cases. Two cases showed 12 exon point mutation c. 1681 c>T(p.R561C), one case showed 14 exon point mutation c. 1998C>G (p.N666K). ETV6-NTRK3 gene fusion was not detected by fluorescence in situ hybridization in four patients under three years old. All cases were followed for 6 to 68 months, with two recurrences. Myofibroma/myofibromatosis is an uncommon benign myofibroblastic tumor of infancy and childhood. The tumor can appear biphasic, and may show PDGFRB point mutation which is of potential diagnostic value.
[Mh] MeSH terms primary: Myofibroma
Myofibromatosis
[Mh] MeSH terms secundary: Adolescent
Antigens, CD34/analysis
Calmodulin-Binding Proteins/analysis
Child
Child, Preschool
Desmin/analysis
Diagnosis, Differential
Exons
Female
Hemangiopericytoma/blood supply
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Male
Mutation
Myofibroma/diagnosis
Myofibroma/genetics
Myofibroma/pathology
Myofibromatosis/diagnosis
Myofibromatosis/genetics
Myofibromatosis/pathology
Receptor, Platelet-Derived Growth Factor beta/analysis
Receptor, Platelet-Derived Growth Factor beta/genetics
S100 Proteins/analysis
STAT6 Transcription Factor/analysis
Vimentin/analysis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Antigens, CD34); 0 (Calmodulin-Binding Proteins); 0 (Desmin); 0 (S100 Proteins); 0 (STAT6 Transcription Factor); 0 (STAT6 protein, human); 0 (Vimentin); EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor beta)
[Em] Entry month:1802
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[Js] Journal subset:IM
[Da] Date of entry for processing:180112
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-5807.2018.01.009

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[PMID]: 29364448
[Au] Autor:Larralde M; Ferrari B; Martinez JP; Barbieri MAF; Méndez JH; Casas J
[Ad] Address:Pediatric Dermatology Section, Hospital Ramos Mejía, Buenos Aires, Argentina.
[Ti] Title:Infantile myofibromatosis.
[So] Source:An Bras Dermatol;92(6):854-857, 2017 Nov-Dec.
[Is] ISSN:1806-4841
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[St] Status:In-Process

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[PMID]: 29274401
[Au] Autor:Letelier C; Gunther M; Alarcon A; Vera P; Kakarieka E; Pantoja R
[Ad] Address:Department of buccal and maxillo-facial surgery, faculty of dentistry, university of Chile, Chile.
[Ti] Title:Agressive pediatric myofibromatosis in a two-year-old child.
[So] Source:J Stomatol Oral Maxillofac Surg;, 2017 Dec 20.
[Is] ISSN:2468-7855
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Aggressive paediatric myofibromatosis is an autosomal recessive disease characterized by fibroblastic proliferation from cells originated in muscle-aponeurotic tissue. Its etiology is unknown, and the average age of the reported cases is 7 years old. The tumor exhibits rapid painless growth and appears attached to muscle tissue and/or bone. The treatment of choice is conservative surgical excision despite of early relapses has been reported. OBSERVATION: A 2-year-old patient, with no morbid history, presented with a large swelling in the left submandibular region, firm, neither defined limits nor inflammatory characteristics. Its size doubled 2 months after an incisional biopsy. CT images showed great compromise of the left mandibular body with expanded and thinned cortical bone. The MRI showed extension towards the pharynx. Histopathological findings were elongated fibroblastic and ovoid cells arranged in bundles and fascicles within fibromyxoid stroma, an image consistent with the diagnosis. The treatment consisted in a conservative exeresis of the tumor, preserving the jaw. Control 1 year after surgical removal shows no signs of relapse and the mandibular structure has been restored. DISCUSSION: The large size of the lesion and bone involvement at such an early age evidenced a very aggressive lesion, however, supported by a previous biopsy, we performed a conservative treatment, which only caused the loss of a dental germ, impossible to take off from the intraosseous tumor. The control of this type of lesions requires a longer follow-up.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180109
[Lr] Last revision date:180109
[St] Status:Publisher

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[PMID]: 29095782
[Au] Autor:McGuire MA; Hendry PL; Hong N
[Ad] Address:From the Departments of *Emergency Medicine, †Emergency Medicine, and ‡Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL.
[Ti] Title:A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures.
[So] Source:Pediatr Emerg Care;33(11):e134-e136, 2017 Nov.
[Is] ISSN:1535-1815
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Infantile myofibromatosis is a disorder of mesenchymal tumors that usually presents within the first 2 years of life. Most patients initially present because of the presence of visible or palpable subcutaneous tumors. We report a case of a fussy 5-week-old infant who presented to an emergency department with bilateral femur fractures initially thought to be due to nonaccidental trauma or a metabolic bone disorder. She was ultimately diagnosed after admission with infantile myofibromatosis after taking an extensive family history and after further laboratory and radiologic evaluation. There are no previously published cases of undiagnosed infantile myofibromatosis presenting to the emergency department, especially with multiple long bone fractures.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process
[do] DOI:10.1097/PEC.0000000000001325

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[PMID]: 29077217
[Au] Autor:Heth M; Hajar T; Korcheva V; Leitenberger J
[Ad] Address:Oregon Health & Science University, Portland, Oregon.
[Ti] Title:Spontaneous Involution (Regression) of a Solitary Cutaneous Myofibroma in an adult patient: Case Report.
[So] Source:J Cutan Pathol;, 2017 Oct 27.
[Is] ISSN:1600-0560
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Myofibromas are unusual benign tumors most commonly seen in infant children. Clinical involution of the tumor often occurs within the first few years of life. Solitary cutaneous myofibroma is the synonymous adult counterpart of infantile myofibromatosis. Although solitary myofibromas have been reported in patients of all ages, only the infantile variant is believed to regress spontaneously. There are only a few case reports of adolescent and young adult patients with regressing solitary lesions that have been described in the literature to date. We report a 71-year-old male with spontaneous regression of solitary cutaneous myofibroma. The residual lesion was excised and to date has not recurred. This report describes the historical, clinical, and histopathological features of adult myofibromas and a novel manifestation that may guide future clinical considerations when approaching solitary tumors with regressive features.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:Publisher
[do] DOI:10.1111/cup.13071

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[PMID]: 28756885
[Au] Autor:Dereure O
[Ad] Address:Unité Inserm U1058, département de dermatologie, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: o-dereure@chu-montpellier.fr.
[Ti] Title:Myofibromatose infantile sporadique : mutations avec gain de fonction de PDGFRB. [Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
[So] Source:Ann Dermatol Venereol;144(8-9):574-575, 2017 Aug - Sep.
[Is] ISSN:0151-9638
[Cp] Country of publication:France
[La] Language:fre
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170815
[Lr] Last revision date:170815
[St] Status:In-Data-Review

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[PMID]: 28726812
[Au] Autor:Pond D; Arts FA; Mendelsohn NJ; Demoulin JB; Scharer G; Messinger Y
[Ad] Address:Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, Minnesota, USA.
[Ti] Title:A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
[So] Source:Genet Med;, 2017 Jul 20.
[Is] ISSN:1530-0366
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by inhibition of PDGFRB.MethodsThe impact of p.N666H on PDGFRB function and sensitivity to imatinib was studied in cell culture.ResultsCells expressing the p.N666H mutation showed constitutive PDGFRB tyrosine phosphorylation. PDGF-independent proliferation was abolished by imatinib at 1 µM concentration. Patient fibroblasts showed constitutive receptor tyrosine phosphorylation that was also abrogated by imatinib with reduced proliferation of treated cells.This led to patient treatment with imatinib at 400 mg daily (340 mg/m ) for a year with objective improvement of debilitating hand and foot contractures, reduced facial coarseness, and significant improvement in quality of life. New small subcutaneous nodules developed, but remained stable. Transient leukopenia, neutropenia, and fatigue resolved without intervention; however, mildly decreased growth velocity resulted in reducing imatinib dose to 200 mg daily (170 mg/m ). The patient continues treatment with ongoing clinical response.ConclusionTo our knowledge, this is one of the first personalized treatments of a congenital disorder caused by a germ-line PDGF receptor mutation with a PDGFRB inhibitor.GENETICS in MEDICINE advance online publication, 20 July 2017; doi:10.1038/gim.2017.104.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170720
[Lr] Last revision date:170720
[St] Status:Publisher
[do] DOI:10.1038/gim.2017.104

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[PMID]: 28639748
[Au] Autor:Minatogawa M; Takenouchi T; Tsuyusaki Y; Iwasaki F; Uehara T; Kurosawa K; Kosaki K; Curry CJ
[Ad] Address:Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
[Ti] Title:Expansion of the phenotype of Kosaki overgrowth syndrome.
[So] Source:Am J Med Genet A;173(9):2422-2427, 2017 Sep.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of PDGFRB causes an overgrowth phenotype and is the first gain-of-function point mutation of PDGFRB to be reported in humans. Here, we report the identification of a mutation in PDGFRB, c.1696T>C p.(Trp566Arg), in two unrelated patients with skeletal overgrowth, further confirming the existence of PDGFRB-related overgrowth syndrome arising from mutations in the juxtamembrane domain of PDGFRB. A review of all four of these patients with an overgrowth phenotype and PDGFRB mutations revealed postnatal skeletal overgrowth, premature aging, cognitive impairment, neurodegeneration, and a prominent connective tissue component to this complex phenotype. From a functional standpoint, hypermorphic mutations in PDGFRB lead to Kosaki overgrowth syndrome, infantile myofibromatosis (OMIM #228550), and Penttinen syndrome (OMIM #601812), whereas hypomorphic mutations lead to idiopathic basal ganglia calcification (OMIM #615007). In conclusion, a specific class of mutations in PDGFRB causes a clinically recognizable syndromic form of skeletal overgrowth.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.38310

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[PMID]: 28541875
[Au] Autor:Mota F; Machado S; Moreno F; Barbosa T; Selores M
[Ad] Address:Dermatology Department, Centro Hospitalar do Porto, Porto, Portugal. fernandojrmota@gmail.com.
[Ti] Title:Infantile myofibromatosis - a clinical and pathological diagnostic challenge.
[So] Source:Dermatol Online J;23(4), 2017 Apr 15.
[Is] ISSN:1087-2108
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal period and primary infancy.Three clinical types have been described: solitary, multicentric, and generalized (with visceral involvement). A correct characterization of the histopathology is essential to diagnose these neoplasias in early infancy. We present a case of multicentric infantile myofibromatosis with regression over time.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170525
[Lr] Last revision date:170525
[St] Status:In-Process

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[PMID]: 28522188
[Au] Autor:Smith MH; Reith JD; Cohen DM; Islam NM; Sibille KT; Bhattacharyya I
[Ad] Address:Division of Oral and Maxillofacial Pathology, University of Florida College of Dentistry Gainesville, FL, USA. Electronic address: Mhousley@dental.ufl.edu.
[Ti] Title:An update on myofibromas and myofibromatosis affecting the oral regions with report of 24 new cases.
[So] Source:Oral Surg Oral Med Oral Pathol Oral Radiol;124(1):62-75, 2017 Jul.
[Is] ISSN:2212-4411
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Myofibromas are uncommon soft tissue tumors exhibiting considerable histopathologic overlap with other benign and malignant entities. The treatment of lesions arising in the oral cavity is controversial. Here, we present 24 new cases and review the literature. STUDY DESIGN: A search for oral myofibromas was performed within the archives of the University of Florida Oral Pathology and Surgical Pathology Services (1994-2015). Demographic information and immunohistochemical results were recorded. MEDLINE and Web of Science were searched for reports of myofibroma of the oral cavity and oropharynx published in the English-language literature between January 1990 and July 2016, and the results were analyzed. RESULTS: In total, 245 cases were identified: 24 from our present series and 221 from the literature. The distribution by gender was 54.6% male and 45.4% female, and the mean age was 23.1 years. Only 7 patients had known multiple lesions. Treatment modalities varied greatly. Of those with follow-up information, only 9 were cases with recurrences. CONCLUSIONS: Myofibromas may resemble several other entities. Because of the potential for multiple (perhaps visceral) lesions and the possibility of overtreatment, accurate diagnosis is of utmost importance. Reports of cases with minimally invasive treatment are sparse, and no standardized treatment protocol has been established. This information should be a priority for future publications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170614
[Lr] Last revision date:170614
[St] Status:In-Process


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