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- Title
DICER1 syndrome in a young adult with pituitary blastoma.
- Authors
Chong, Anne-Sophie; Han, HyeRim; Albrecht, Steffen; Weon, Young Cheol; Park, Sang Kyu; Foulkes, William D.
- Abstract
It is considered a pathognomonic feature of the DICER1 syndrome [[6], [28]], an uncommon tumor predisposition syndrome characterized by germline heterozygous loss-of-function variants in the I DICER1 i gene [[28]]. Pituitary blastoma (pitB) is a rare tumor of the anterior pituitary that was added to the WHO Classification of Pituitary Tumors in 2017 [[25]]. 8484187 2 Brenneman M, Field A, Yang J, Williams G, Doros L, Rossi C. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma/DICER1 syndrome: a unique variant of the two-hit tumor suppression model. The rationale for no surveillance is based on the rarity of these tumors [[1], [39]], even within DICER1 syndrome, whereas yearly MRI has been recommended because of the poor disease outcome of DICER1-related CNS tumors [[43]].
- Subjects
GENETIC disorders; MONONUCLEAR leukocytes; GENETIC mutation
- Publication
Acta Neuropathologica, 2021, Vol 142, Issue 6, p1071
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-021-02378-0