Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib
نویسندگان
چکیده
منابع مشابه
Infantile myofibromatosis*
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.
متن کاملModulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myof...
متن کاملInfantile Myofibromatosis
Infantile myofibromatosis (IMP) is a rare tumour with a wide spectrum of disease activity ra a solitarY cutaneous nodule through to a multicentric form ,vith widespread visceral involveluent. R is charactelised by its unique ability to spontaneously regress and has a typical histological appearance of a~tin-positivefibroblasts arranged in whorls or fascicles and vessels in a pericytomatous patt...
متن کاملInfantile myofibromatosis.
Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytom...
متن کاملMulticentric Infantile Myofibromatosis
We present a case of multicentric infantile myofibromatosis in a 3-month-old male infant who had multiple papular lesions on his extremities and trunk and a slowly growing and bulging mass on his left occipital area since birth. His general physical condition was good and psychomotor development was normal. The diagnosis was established by histopathological and immunohistochemical studies along...
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ژورنال
عنوان ژورنال: Molecular Case Studies
سال: 2019
ISSN: 2373-2865,2373-2873
DOI: 10.1101/mcs.a004440