Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2067/47861
Titolo: Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variant
Autori: Paparella, Roberto
Caroleo, Anna Maria
Agolini, Emanuele
Chillemi, Giovanni 
Miele, Evelina
Pedace, Lucia
Rinelli, Martina
Pizzi, Simone
Boccuto, Luigi
Colafati, Giovanna Stefania
Lodi, Mariachiara
Cacchione, Antonella
Carai, Andrea
Digilio, Maria Cristina
Tomà, Paolo
Tartaglia, Marco
Mastronuzzi, Angela
Rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 
Data pubblicazione: 2022
Abstract: 
Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic variants related to the familial syndromes have rarely been detected in sporadic ependymomas. De novo variants in POLR2A, the gene encoding the largest subunit of RNA polymerase II, cause a neurodevelopmental disorder with a wide range of clinical manifestations, characterized by severe infantile-onset hypotonia, developmental delay, feeding difficulties, palatal anomalies, and facial dysmorphisms. As somatic events, POLR2A mutations represent a recurrent somatic lesion in benign meningiomas. Here we describe a case of ependymoma in a 2-year-old male with a de novo pathogenic variant in POLR2A predicted to impair proper interaction of the subunit with transcription-elongation factor TFIIS, whose function is required for back-tracking of the enzyme due to elongation blocks or nucleotide misincorporation, and expected to result in an increased error and reduced elongation rates. To date, ependymoma has never been reported in patients harboring pathogenic POLR2A variants. Further information is required to explore the possibility of a differential clinical and functional impact of the pathogenic POLR2A variants and the eventual inclusion of the POLR2A neurodevelopmental disorder among the cancer predisposition syndromes with the possible development of ependymomas.
URI: http://hdl.handle.net/2067/47861
ISSN: 1552-4833
DOI: 10.1002/ajmg.a.62869
È visualizzato nelle collezioni:A1. Articolo in rivista

File in questo documento:
File Descrizione DimensioniFormato Existing users please
Paparella2022.pdf1.42 MBAdobe PDF  Richiedi una copia
Visualizza tutti i metadati del documento

SCOPUSTM
Citations 20

1
Last Week
0
Last month
1
controllato il 29-feb-2024

Page view(s)

67
Last Week
0
Last month
1
controllato il 2-mar-2024

Download(s)

3
controllato il 2-mar-2024

Google ScholarTM

Check

Altmetric


Tutti i documenti nella community "Unitus Open Access" sono pubblicati ad accesso aperto.
Tutti i documenti nella community Prodotti della Ricerca" sono ad accesso riservato salvo diversa indicazione per alcuni documenti specifici