Extending the phenotypes associated with DICER1 mutations

被引：153

作者：

Foulkes, William D. ^{[1
,2
,3
,17
]}

Bahubeshi, Amin ^{[2
,17
]}

Hamel, Nancy ^{[3
,17
]}

Pasini, Barbara ^{[4
]}

Asioli, Sofia ^{[18
]}

Baynam, Gareth ^{[5
]}

Choong, Catherine S. ^{[5
]}

Charles, Adrian ^{[6
]}

Frieder, Richard P. ^{[7
,8
]}

Dishop, Megan K. ^{[9
,10
]}

Graf, Nicole ^{[11
]}

Ekim, Mesiha ^{[12
]}

Bouron-Dal Soglio, Dorothee ^{[13
]}

Arseneau, Jocelyne ^{[14
]}

Young, Robert H. ^{[15
]}

Sabbaghian, Nelly ^{[2
,17
]}

Srivastava, Archana ^{[2
,17
]}

Tischkowitz, Marc D. ^{[2
,17
]}

Priest, John R. ^{[16
]}

机构：

[1] McGill Univ, Program Canc Genet, Dept Oncol, Gerald Bronfman Ctr Clin Res Oncol, Montreal, PQ H2W 1S6, Canada

[2] McGill Univ, Jewish Gen Hosp, Lady Davis Inst, Segal Canc Ctr, Montreal, PQ H3T 1E2, Canada

[3] McGill Univ, Res Inst, Ctr Hlth, Montreal, PQ H2W 1S6, Canada

[4] Univ Turin, Dept Genet Biol & Biochem, I-10124 Turin, Italy

[5] Univ Western Australia, Sch Paediat & Child Hlth, Nedlands, WA 6009, Australia

[6] Univ Western Australia, Sch Pathol, Nedlands, WA 6009, Australia

[7] Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90095 USA

[8] Canc Risk Assessment & Prevent, Santa Monica, CA USA

[9] Childrens Hosp Colorado, Dept Pathol, Aurora, CO USA

[10] Univ Colorado Denver, Sch Med, Aurora, CO USA

[11] Childrens Hosp Westmead, Dept Pathol, Sydney, NSW, Australia

[12] Ankara Univ, Dept Pediat Nephrol, Sch Med, TR-06100 Ankara, Turkey

[13] CHU St Justine, Dept Pathol, Montreal, PQ, Canada

[14] McGill Univ, Dept Pathol, Montreal, PQ H2W 1S6, Canada

[15] Harvard Univ, Dept Pathol, Massachusetts Gen Hosp, Boston, MA 02115 USA

[16] Childrens Hosp & Clin Minnesota, Int Pleuropulm Blastoma Registry, Minneapolis, MN USA

[17] McGill Univ, Program Canc Genet, Dept Human Genet, Montreal, PQ H2W 1S6, Canada

[18] Univ Turin, Dept Biomed Sci & Human Oncol, I-10124 Turin, Italy

来源：

HUMAN MUTATION | 2011年 / 32卷 / 12期

关键词：

DICER1; sarcoma; cPNET; Wilms tumor; congenital cardiac defects; LEYDIG CELL TUMOR; PLEUROPULMONARY BLASTOMA; SARCOMA BOTRYOIDES; CYSTIC NEPHROMA; CERVIX;

D O I：

10.1002/humu.21600

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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. 32:13811384, 2011. (C) 2011 Wiley Periodicals, Inc.

引用

页码：1381 / 1384

页数：4

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