Article
A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.
Brain tumor pathology - 1 Oct 2022
Yang Kaiyun, Wang Justin, Kanwar Nisha, Villani Anita, Ajani Olufemi, Fleming Adam, Patil Vikas, Mamatjan Yasin, Wei Qingxia, Malkin David, Shlien Adam, Zadeh Gelareh, Provias John
Abstract excerpt
A child had been followed since infancy by our multi-disciplinary neuro-oncology clinic with annual magnetic resonance imaging (MRI) under the presumed diagnosis of encephalocraniocutaneous lipomatosis (ECCL), with clinical features including nevus psiloliparus, scalp lipoma, nodular skin tag on and coloboma of the eyelid, cortical atrophy and meningeal angiomatosis. At the age of 4, she was found to have a large...
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