关键词: PDGFRB mutation infantile myofibromatosis intracranial myofibroma molecular biology pediatric tumors soft tissue tumors

Mesh : Adolescent Female Germ-Line Mutation Humans Myofibromatosis / congenital diagnostic imaging genetics pathology Point Mutation Receptor, Platelet-Derived Growth Factor beta / genetics Soft Tissue Neoplasms / diagnostic imaging genetics pathology

来  源:   DOI:10.1177/1093526618787736

Abstract:
Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal organs. It most commonly affects the head and neck of infants and young children, but it can also affect adults. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. Recently, it has been demonstrated that germline and somatic mutations in the platelet-derived growth factor receptor beta (PDGFRB) are associated with familial infantile myofibromatosis. We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene.
摘要:
暂无翻译
公众号