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American Journal of Human Genetics Jun 2013Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and...
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor β (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-β as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-β in aggressive life-threatening familial forms of the disease.
Topics: Amino Acid Sequence; Female; Genes, Dominant; Genetic Association Studies; Germ-Line Mutation; Heterozygote; Humans; Male; Models, Molecular; Mutation, Missense; Myofibromatosis; Pedigree; Protein Structure, Tertiary; Receptor, Notch3; Receptor, Platelet-Derived Growth Factor beta; Receptors, Notch; Sequence Analysis, DNA
PubMed: 23731537
DOI: 10.1016/j.ajhg.2013.04.026 -
Journal of Clinical and Diagnostic... Mar 2013Myofibroma, a benign neoplasm of the myofibroblasts, is most commonly encountered in the head and neck region, which includes the scalp, the forehead, the parotid region...
Myofibroma, a benign neoplasm of the myofibroblasts, is most commonly encountered in the head and neck region, which includes the scalp, the forehead, the parotid region and the oral cavity. It is most rarely reported in the eyelids. Ocular myofibroma typically presents during childhood and it is rare in older patients. One such rare case which occurred in a 26 year old female with a clinical diagnosis of a palperbral orbital cyst, which was associated with a rudimentary eyeball, has been presented here. Rudimentary eyeballs which are associated with other congenital anomalies of the central nervous system, the female genital system and the skeletal system, have been frequently reported, but the occurrence of myofibroma in a rudimentary eyeball, as was seen in the present case, is an exceptional feature and an extensive review of literature did not reveal any report of such an occurrence.
PubMed: 23634422
DOI: 10.7860/JCDR/2013/5095.2824 -
Actas Dermo-sifiliograficas 2013
Topics: Female; Humans; Infant, Newborn; Myofibromatosis
PubMed: 23375150
DOI: 10.1016/j.ad.2012.11.012 -
Journal of Neonatal Surgery 2012
PubMed: 26023394
DOI: No ID Found -
Turk Patoloji Dergisi 2012In this study, we aimed to give a documentation of 37 cases of childhood fibroblastic/myofibroblastic tumors retrieved from the archives of 6 reference centers in Ankara... (Review)
Review
OBJECTIVE
In this study, we aimed to give a documentation of 37 cases of childhood fibroblastic/myofibroblastic tumors retrieved from the archives of 6 reference centers in Ankara along with a comprehensive review on the subject.
MATERIAL AND METHOD
A retrospective archive search was carried out for the period between 2006-2010 in 6 reference centers in Ankara covering patients with ages ranging between 0-18 years. All the tumors categorized under fibroblastic and myofibroblastic group according to World Health Organization criteria were collected.
RESULTS
The study comprised 407 soft tissue tumors in total. Fibroblastic/myofibroblastic tumors constituted 9,1 % (37 cases) of these tumors. According to histopathology; 16 cases were categorized as fibromatosis, 8 cases as inflammatory myofibroblastic tumor, 6 cases as infantile fibrous hamartoma, 3 cases as nodular fasciitis and 2 cases as infantile myofibroblastic tumor/myofibromatosis and 1 case as cranial fasciitis. The only malignant case was an infantile fibrosarcoma.
CONCLUSION
Infantile fibrosarcoma was lower than reported series and a male predominance was noted. The low incidence of newly described entities as well suggests that these tumors may have been unrecognized.
Topics: Adolescent; Child; Child, Preschool; Female; Fibroma; Humans; Infant; Infant, Newborn; Male; Myofibroma; Retrospective Studies; Soft Tissue Neoplasms
PubMed: 22207428
DOI: 10.5146/tjpath.2012.01093 -
Radiologia 2014Infantile myofibromatosis, despite being considered a rare condition, is the most common fibrous tumour in infancy. It is characterised by the presence of benign...
Infantile myofibromatosis, despite being considered a rare condition, is the most common fibrous tumour in infancy. It is characterised by the presence of benign fibroblastic-myofibroblastic lesions. It usually occurs in children under two years-old, but it can appear at any age. The solitary form (myofibromas) may affect the skin, subcutaneous cellular tissue, muscle or bone. In the multi-centred form (myofibromatosis), there may also be visceral lesions. The lesions usually regress spontaneously in one or two years, with the prognosis being excellent in these cases. However, when there is visceral involvement, the prognosis is poor and treatment with chemotherapy is indicated. Lung involvement is more associated with a poor prognosis. Although the definitive diagnosis is by histopathology, diagnostic imaging tests are essential for characterising the lesions, establishing the extent of the disease, assessing visceral involvement, and following up the progression of the lesions.
Topics: Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Multimodal Imaging; Myofibromatosis; Prognosis; Ultrasonography
PubMed: 22118778
DOI: 10.1016/j.rx.2011.03.016 -
Case Reports in Dermatology May 2011Infantile myofibromatosis is a rare fibrous tumor of infancy. The cutaneous solitary type has typically an excellent prognosis. However, histologically, it is important...
Infantile myofibromatosis is a rare fibrous tumor of infancy. The cutaneous solitary type has typically an excellent prognosis. However, histologically, it is important to rule out leiomyosarcoma, which has a poor prognosis. The low frequency of mitosis was definitive for a diagnosis of infantile myofibromatosis. We present a cutaneous solitary-type case of infantile myofibromatosis. Following incisional biopsy, the tumor remitted spontaneously.
PubMed: 21941483
DOI: 10.1159/000331325 -
Journal of Visceral Surgery Sep 2011Myofibroblastic tumors are inflammatory tumors that arise in viscera and soft tissue; their etiopathology is poorly understood. They are capable of infiltration of...
Myofibroblastic tumors are inflammatory tumors that arise in viscera and soft tissue; their etiopathology is poorly understood. They are capable of infiltration of adjacent organs, local recurrence after surgical resection, and even of distant metastasis. These characteristics result in persistent debate as to the nature of these lesions - whether they are inflammatory or neoplastic, benign or malignant lesions? Diagnosis is almost always made based on histopathological findings. Traditional management is complete surgical excision, but this may be difficult or impossible when the lesion develops in proximity to vital structures. We report the case of a 59-year-old man who was treated in our institution for mesenteric myofibroblastic tumor. Complete resection was not possible due to local infiltration of the mesentery. Recurrence was noted 3 months after surgery; treatment with steroidal and then non-steroidal anti-inflammatory medications (NSAIDs) resulted in clinical and radiologic regression of the tumor.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Diagnosis, Differential; Humans; Indomethacin; Male; Mesentery; Middle Aged; Myofibromatosis; Prednisone
PubMed: 21872549
DOI: 10.1016/j.jviscsurg.2011.06.005 -
Ear, Nose, & Throat Journal Jul 2011Myofibroma/myofibromatosis is a rare mesenchymal disorder that is part of a heterogeneous group of approximately 20 disorders that are classified primarily according to...
Myofibroma/myofibromatosis is a rare mesenchymal disorder that is part of a heterogeneous group of approximately 20 disorders that are classified primarily according to the proliferation of benign fibrous elements. These lesions can arise during a wide range of ages, with many occurring in the first decade of life, and they are slightly more common in males than females. The etiology of this disease is not well understood. Clinically, patients with myofibroma/myofibromatosis present with various signs, ranging from superficial, cutaneous, purplish macules to freely movable subcutaneous masses to deep-seated fixed lesions. The definitive diagnosis is made on histopathologic grounds. The destructive clinical behavior of myofibroma/myofibromatosis in the setting of insufficient pre- or perioperative diagnostic evaluations (e.g., a failure to perform fine-needle aspiration or frozen-section biopsy) may guide the clinician toward a radical surgical procedure rather than a simple excision.
Topics: Cheek; Child; Facial Neoplasms; Humans; Male; Myofibroma; Neoplasm Invasiveness; Radiography; Skull Neoplasms; Zygoma
PubMed: 21792782
DOI: 10.1177/014556131109000711 -
Interventional Neuroradiology : Journal... Jun 2011We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an...
We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding. Recommendations regarding microcatheter selection, diagnostic workup, and management of the ensuing complication are given.
Topics: Catheterization; Device Removal; Dimethyl Sulfoxide; Embolization, Therapeutic; Foreign Bodies; Head and Neck Neoplasms; Humans; Infant, Newborn; Myofibromatosis; Polyvinyls; Preoperative Care; Radiography
PubMed: 21696669
DOI: 10.1177/159101991101700220