Extending the phenotypes associated with DICER1 mutations

W.D. Foulkes; A. Bahubeshi; N. Hamel; B. Pasini; S. Asioli; G. Baynam; C.S. Choong; A. Charles; R.P. Frieder; M.K. Dishop; N. Graf; M. Ekim; D. Bouron-Dal Soglio; J. Arseneau; R.H. Young; N. Sabbaghian; A. Srivastava; M.D. Tischkowitz; J.R. Priest

doi:10.1002/humu.21600

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Extending the phenotypes associated with DICER1 mutations

Journal article

Peer reviewed

Extending the phenotypes associated with DICER1 mutations

W.D. Foulkes, A. Bahubeshi, N. Hamel, B. Pasini, S. Asioli, G. Baynam, C.S. Choong, A. Charles, R.P. Frieder, M.K. Dishop, …

Human Mutation, Vol.32(12), pp.1381-1384

2011

DOI: https://doi.org/10.1002/humu.21600

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Abstract

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional families that manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) and primitive neuroectodermal tumor (cPNET, one case), Wilms tumor (WT, three cases), pulmonary sequestration (PS, one case), and juvenile intestinal polyp (one case). One carrier developed (age 25 years) a pleomorphic sarcoma of the thigh; another carrier had transposition of great arteries (TGA). These observations show that cERMS, cPNET, WT, PS, and juvenile polyps fall within the spectrum of DICER1-related diseases. DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated.

Details

Title: Extending the phenotypes associated with DICER1 mutations
Authors/Creators: W.D. Foulkes (Author/Creator) - Jewish General Hospital
A. Bahubeshi (Author/Creator) - Jewish General Hospital
N. Hamel (Author/Creator) - McGill University
B. Pasini (Author/Creator) - Departments of Genetics, Biology and Biochemistry
S. Asioli (Author/Creator) - University of Turin
G. Baynam (Author/Creator) - The University of Western Australia
C.S. Choong (Author/Creator) - Princess Margaret Hospital for Children
A. Charles (Author/Creator) - The University of Western Australia
R.P. Frieder (Author/Creator) - University of California, Los Angeles
M.K. Dishop (Author/Creator) - Children's Hospital Colorado
N. Graf (Author/Creator) - Children's Hospital at Westmead
M. Ekim (Author/Creator) - Ankara University
D. Bouron-Dal Soglio (Author/Creator)
J. Arseneau (Author/Creator) - McGill University
R.H. Young (Author/Creator) - Massachusetts General Hospital
N. Sabbaghian (Author/Creator) - Jewish General Hospital
A. Srivastava (Author/Creator) - Jewish General Hospital
M.D. Tischkowitz (Author/Creator) - Jewish General Hospital
J.R. Priest (Author/Creator) - Children’s Minnesota - St. Paul Hospital
Publication Details: Human Mutation, Vol.32(12), pp.1381-1384
Publisher: John Wiley & Sons Inc.
Identifiers: 991005542950807891
Copyright: © 2011 Wiley Periodicals, Inc.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.257 Birth defects; 1.257.1688 Bronchogenic Cyst
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics