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Cutis Apr 2004Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and... (Review)
Review
Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative; however, visceral involvement may be fatal. We present a case of infantile myofibromatosis in a 1-year-old boy and review the literature.
Topics: Humans; Infant; Male; Myofibromatosis; Skin Neoplasms
PubMed: 15134320
DOI: No ID Found -
Ophthalmic Plastic and Reconstructive... May 2004Infantile myofibromatosis is a rare disorder of infancy that can provoke osteolytic lesions. A 15-day-old infant presented with three round, firm lesions located on the... (Review)
Review
Infantile myofibromatosis is a rare disorder of infancy that can provoke osteolytic lesions. A 15-day-old infant presented with three round, firm lesions located on the forehead, shoulder, and back. Excisional biopsy of the forehead lesion revealed that the tumor was composed of spindle cells resembling normal smooth muscle arranged in short fascicles. Immunohistochemical staining was positive for vimentin and actin. Five months later, the child presented with three new lesions, including one in the superolateral aspect of the left orbit. It is important to recognize the multicentric form of infantile myofibromatosis because, despite its aggressive clinical presentation, the disease is benign and usually does not require extensive surgery or chemotherapy.
Topics: Actins; Biopsy; Humans; Immunohistochemistry; Infant, Newborn; Myofibromatosis; Orbit; Orbital Neoplasms; Staining and Labeling; Tomography, X-Ray Computed; Vimentin
PubMed: 15167741
DOI: 10.1097/01.iop.0000123501.30336.2c -
Archivos Espanoles de Urologia Jun 2007To present a case of infantile myofibromatosis of visceral location and a review of the literature. (Review)
Review
OBJECTIVE
To present a case of infantile myofibromatosis of visceral location and a review of the literature.
METHOD/RESULTS
We report the case of an 11-year-old Caucasian girl hospitalized for abdominal tumorous mass, weight loss and lack of appetite. Physical examination showed: cutaneous-mucous paleness and a painless, palpable tumorous mass of 8-10cm in the right abdominal flank, of firm consistency with defined edges and extending past the midline. Blood test showed hemoglobin 90 mg/l and erythrocyte sedimentation rate of 130 mm/hour. Chest x-ray and bone study were normal, while abdominal x-ray showed intratumorous calcification, intravenous urographyc showed light displace downwards and outwards of the right kidney. Ultrasound showed a solid echogenic mass with a diameter of 11cm in the right abdominal flank, above and extending towards the lower portion of the right kidney. Surgical treatment for possible neuroblastoma was initiated, during which various tumorous growths were observed in the mesocolon, the largest measuring 7cm, which were removed. Macroscopic examination showed whitish well-defined tumorous growths of firm consistency with focal calcifications. Microscopic examination showed a proliferation of fibroblastic type cells, with some areas having smooth muscle cell characteristics. Diagnosis was myofibromatosis.
CONCLUSIONS
Infantile myofibromatosis is the most common fibrous disorder of infancy and childhood, more commonly found between birth and two years of age, may also appear later in life. Etiology is unclear, but certain studies report estrogen involvement in its pathogenesis. Clinical symptoms depend on the location and extension of the lesion and age at presentation. Spontaneous relapse may occur. Prognosis is good in the absence of visceral damage, although generalized congenital myofibromatosis with visceral damage is associated with high mortality especially in the first months of life, due to its destructive capacity, obstruction of vital organs, growth inhibition or infection. Urologic concerns include possible infiltration of genito-urinary organs (kidney, corpus spongiosum) and its association with urologic abnormalities. Ultrastructural and immunohistochemical studies show that the tumor is composed of myofibroblasts, with estrogen receptors, displaying vimentin and smooth muscle actin immunoreactivity. Strict follow up is recommended in patients with congenital myofibromatosis to avoid or detect possible complications that may be life-threatening (Bone survey abdominal-pelvic ultrasound, echocardiogram, chest-abdominal CT and biopsy). The treatment of choice is surgical removal, with extensive excision to avoid possible relapse.
Topics: Child; Colonic Diseases; Female; Female Urogenital Diseases; Humans; Myofibromatosis
PubMed: 17718213
DOI: 10.4321/s0004-06142007000500011 -
Cancer Mar 1992Two brothers with multicentric infantile myofibromatosis (IM) are reported. In both, tumors were present at birth; the tumors regressed spontaneously, but new lesions... (Review)
Review
Two brothers with multicentric infantile myofibromatosis (IM) are reported. In both, tumors were present at birth; the tumors regressed spontaneously, but new lesions developed throughout the follow-up periods of 15 and 8 years. Immunohistochemically, the nodules were found to be positive for vimentin and actin, but negative for desmin and S-100 protein; these findings support the myofibroblastic nature of IM. A literature review revealed nine additional families with IM in more than one family member. Although the occurrence of IM in eight sets of siblings, with consanguinity in two of them, favors an autosomal recessive mode of inheritance, the disorder also has been well documented in half-sisters and in successive generations, which makes autosomal dominant inheritance a more plausible explanation.
Topics: Actins; Family; Humans; Immunohistochemistry; Infant, Newborn; Leiomyoma; Male; Pedigree; Vimentin
PubMed: 1739928
DOI: 10.1002/cncr.2820690537 -
American Journal of Medical Genetics.... Sep 2019Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile...
Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.
Topics: Adult; Disease Progression; Genetic Predisposition to Disease; Heterozygote; Humans; Imatinib Mesylate; Male; Mutation; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31291054
DOI: 10.1002/ajmg.a.61283 -
Pediatric Dermatology Jan 2021The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized...
The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.
Topics: Humans; Infant; Infant, Newborn; Myofibromatosis
PubMed: 33222239
DOI: 10.1111/pde.14456 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2018To investigate the clinical and histological features, diagnosis and differential diagnosis of myofibroma/myofibromatosis. The clinical data and pathology features of...
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.
Topics: Adolescent; Antigens, CD34; Calmodulin-Binding Proteins; Child; Child, Preschool; Desmin; Diagnosis, Differential; Exons; Female; Hemangiopericytoma; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Male; Mutation; Myofibroma; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; S100 Proteins; STAT6 Transcription Factor; Vimentin
PubMed: 29325250
DOI: 10.3760/cma.j.issn.0529-5807.2018.01.009 -
JAMA Dermatology Aug 2019Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease.
IMPORTANCE
Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease.
OBJECTIVE
To determine the frequency, spectrum, and clinical implications of mutations in the PDGFRB receptor tyrosine kinase found in sporadic myofibroma and myofibromatosis.
DESIGN, SETTING, AND PARTICIPANTS
In this retrospective study of 69 patients with sporadic myofibroma or myofibromatosis, 85 tumor samples were obtained and analyzed by targeted deep sequencing of PDGFRB. Mutations were confirmed by an alternative method of sequencing and were experimentally characterized to confirm gain of function and sensitivity to the tyrosine kinase inhibitor imatinib.
MAIN OUTCOMES AND MEASURES
Frequency of gain-of-function PDGFRB mutations in sporadic myofibroma and myofibromatosis. Sensitivity to imatinib, as assessed experimentally.
RESULTS
Of the 69 patients with tumor samples (mean [SD] age, 7.8 [12.7] years), 60 were children (87%; 29 girls [48%]) and 9 were adults (13%; 4 women [44%]). Gain-of-function PDGFRB mutations were found in samples from 25 children, with no mutation found in samples from adults. Mutations were particularly associated with severe multicentric disease (13 of 19 myofibromatosis cases [68%]). Although patients had no familial history, 3 of 25 mutations (12%) were likely to be germline, suggesting de novo heritable alterations. All of the PDGFRB mutations were associated with ligand-independent receptor activation, and all but one were sensitive to imatinib at clinically relevant concentrations.
CONCLUSIONS AND RELEVANCE
Gain-of-function mutations of PDGFRB in myofibromas may affect only children and be more frequent in the multicentric form of disease, albeit present in solitary pediatric myofibromas. These alterations may be sensitive to tyrosine kinase inhibitors. The PDGFRB sequencing appears to have a high value for diagnosis, prognosis, and therapy of soft-tissue tumors in children.
PubMed: 31017643
DOI: 10.1001/jamadermatol.2019.0114 -
Ultrasound in Obstetrics & Gynecology :... Nov 2020
Topics: Diagnosis, Differential; Diagnostic Imaging; Female; Humans; Myofibromatosis; Pregnancy
PubMed: 31909539
DOI: 10.1002/uog.21964 -
Journal of Oral Pathology & Medicine :... May 2007Myofibroma is a solitary benign tumor of myofibroblasts. Myofibromatosis describes multiple, simultaneous myofibromas at different sites in various organs. The... (Review)
Review
BACKGROUND
Myofibroma is a solitary benign tumor of myofibroblasts. Myofibromatosis describes multiple, simultaneous myofibromas at different sites in various organs. The clinico-pathologic correlations of myofibroma/myofibromatosis confined only to oral soft tissues were analyzed.
METHODS
In the English language literature, 41 myofibroma and 12 myofibromatosis cases involving the oral soft tissues were found. From our files, three new myofibroma cases were added.
RESULTS
Age at time of diagnosis of oral mucosa myofibroma ranged from birth to 70 years (mean 21.7 years), considerably higher than myofibroma in other parts of the body. Lesions occurred during the first decade (44%) and in the first year of life (17%). Male:female ratio was 1:1.6, contrary to the male predominance in other parts of the body. Common sites were the tongue (32%) and buccal mucosa (18%). Treatment was local excision, either complete (n = 13) or partial (n = 3), wide excision (n = 4), surgery, and chemotherapy (n = 1). Myofibromatosis involving oral soft tissues was diagnosed at birth in nine (75%) patients, within the first year in two, and as a young adult in one. Male:female ratio was 2:1. The tongue was the most common site (50%). Half the patients died of disseminated disease within a few days from birth, three were cured by partial or complete excision, and three experienced spontaneous regression. Histologically, oral mucosa myofibroma/myofibromatosis appearance agreed with findings in the literature.
CONCLUSIONS
Myofibroma should be included in the clinical differential diagnosis of masses of the oral soft tissues, especially in the tongue and buccal mucosa of children and adolescents. Histological differential diagnosis includes benign and malignant spindle-shaped lesions. Treatment of choice is local excision.
Topics: Adolescent; Adult; Diagnosis, Differential; Female; Humans; Infant; Lip Neoplasms; Male; Mouth Mucosa; Myofibromatosis; Neoplasms, Muscle Tissue; Tongue Neoplasms
PubMed: 17448141
DOI: 10.1111/j.1600-0714.2007.00528.x