Murdoch University Research Repository

Welcome to the Murdoch University Research Repository

The Murdoch University Research Repository is an open access digital collection of research
created by Murdoch University staff, researchers and postgraduate students.

Learn more

Extending the phenotypes associated with DICER1 mutations

Foulkes, W.D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C.S., Charles, A., Frieder, R.P., Dishop, M.K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R.H., Sabbaghian, N., Srivastava, A., Tischkowitz, M.D. and Priest, J.R. (2011) Extending the phenotypes associated with DICER1 mutations. Human Mutation, 32 (12). pp. 1381-1384.

Link to Published Version:
*Subscription may be required


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.

Item Type: Journal Article
Publisher: John Wiley & Sons Inc.
Copyright: © 2011 Wiley Periodicals, Inc.
Item Control Page Item Control Page