Journal article
A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL
Abstract
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 temporoparietal lesion causing …
Authors
Yang K; Wang J; Kanwar N; Villani A; Ajani O; Fleming A; Patil V; Mamatjan Y; Wei Q; Malkin D
Journal
Brain Tumor Pathology, Vol. 39, No. 4, pp. 225–231
Publisher
Springer Nature
Publication Date
October 2022
DOI
10.1007/s10014-022-00437-2
ISSN
1433-7398