ESPEYB18 1. Pituitary and Neuroendocrinology Clinical/Translational (4 abstracts)
1.15. Clinical outcomes and complications of pituitary blastoma
Liu APY , Kelsey MM , Sabbaghian N , Park SH , Deal CL , Esbenshade AJ , Ploner O , Peet A , Traunecker H , Ahmed YHE , Zacharin M , Tiulpakov A , Lapshina AM , Walter AW , Dutta P , Rai A , Korbonits M , de Kock L , Nichols KE , Foulkes WD & Priest JR
J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.
Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (n=7), reduced visual acuity (n=4), developmental delay (n=4), and symptoms of increased intracranial pressure (n=3). At a median follow−up of 6.7 years, 9 patients were alive. Chronic complications included neuroendocrine (n=8), visual (n=4), and neurodevelopmental (n=3) deficits. 16/17 cases were attributed to DICER1 abnormalities.
Post−transcriptional silencing of genes is mediated through several small RNA types, which are formed by processing precursor RNAs by the enzyme DICER1. Rare loss−of−function mutations in DICER1 gene give rise to DICER1 tumor predisposition syndrome. Pituitary blastoma, in turn, is a rare, potentially lethal tumor of the pituitary gland that occurs primarily in early childhood, and is highly suggestive of DICER1 syndrome.
These findings confirm that pituitary blastoma is a locally destructive tumor associated with high mortality.
Volume 18
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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