Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Détails

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Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_C4E9B503F435
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Périodique
Acta Neuropathologica
Auteur(s)
de Kock L., Sabbaghian N., Plourde F., Srivastava A., Weber E., Bouron-Dal Soglio D., Hamel N., Choi J.H., Park S.H., Deal C.L., Kelsey M.M., Dishop M.K., Esbenshade A., Kuttesch J.F., Jacques T.S., Perry A., Leichter H., Maeder P., Brundler M.A., Warner J., Neal J., Zacharin M., Korbonits M., Cole T., Traunecker H., McLean T.W., Rotondo F., Lepage P., Albrecht S., Horvath E., Kovacs K., Priest J.R., Foulkes W.D.
ISSN
1432-0533 (Electronic)
ISSN-L
0001-6322
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
128
Numéro
1
Pages
111-122
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1-associated tumor types. Pituitary blastoma (PitB) was identified as a distinct entity in 2008, and is a very rare, potentially lethal early childhood tumor of the pituitary gland. Since the discovery by our team of an inherited mutation in DICER1 in a child with PitB in 2011, we have identified 12 additional PitB cases. We aimed to determine the contribution of germ-line and somatic DICER1 mutations to PitB. We hypothesized that PitB is a pathognomonic feature of a germ-line DICER1 mutation and that each PitB will harbor a second somatic mutation in DICER1. Lymphocyte or saliva DNA samples ascertained from ten infants with PitB were screened and nine were found to harbor a heterozygous germ-line DICER1 mutation. We identified additional DICER1 mutations in nine of ten tested PitB tumor samples, eight of which were confirmed to be somatic in origin. Seven of these mutations occurred within the RNase IIIb catalytic domain, a domain essential to the generation of 5p miRNAs from the 5' arm of miRNA-precursors. Germ-line DICER1 mutations are a major contributor to PitB. Second somatic DICER1 "hits" occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis.
Pubmed
Web of science
Création de la notice
05/08/2014 17:42
Dernière modification de la notice
20/08/2019 15:40
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