Format

Send to

Choose Destination

See 1 citation found by title matching your search:

Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18.

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

Author information

1
Department of Human Genetics, McGill University, 1205 Dr. Penfield Avenue, Stewart Biology Building, Room N5/13, Montréal, QC H3A 1B1, Canada.
2
Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Cote Sainte Catherine Road, Montréal, QC H3T 1E2, Canada.
3
McGill University and Genome Quebec Innovation Centre, 740 Dr Penfield Avenue, Montréal, QC H3A 0G4, Canada.
4
Division of Pathology, Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
5
Department of Laboratory Medicine and Pathobiology, University of Toronto, 1 King's College Circle, Toronto, ON M5S 1A8, Canada.
6
Department of Paediatrics, McGill University, 1001 Décarie Boulevard, Montréal, QC H4A 3J1, Canada.
7
Department of Pathology, CHU-Sainte Justine and University of Montréal, Montréal, QC H3T 1C4, Canada.
8
Princess Margaret Hospital for Children, Roberts Road, Subiaco, WA 6008, Australia.
9
The University of Western Australia, 35 Stirling Highway, Perth, WA 6009, Australia.
10
Minneapolis, MN 55454, USA.
11
Department of Pathology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
12
Department of Pathology, Siriraj Hospital, Bangkok Noi, Bangkok 10700, Thailand.
13
Faculty of Medicine, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.
14
Department of Clinical Genetics, Erasmus MC University Medical Center, Wytemaweg 80, Rotterdam 3015 CN, The Netherlands.
15
Department of Surgery, St. Vincent's Hospital Melbourne, University of Melbourne, 41 Victoria Parade, Melbourne, VIC 3065, Australia.
16
Department of Medical Genetics, Research Institute of the McGill University Health Centre, 1001 Décarie Boulevard, Montréal, QC H4A 3J1, Canada.

Abstract

BACKGROUND:

Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development.

METHODS:

The coding region of DICER1 was sequenced in 67 sarcomas using a custom Fluidigm Access Array. The RNase III domains were Sanger sequenced in six additional sarcomas to identify hotspot DICER1 variants.

RESULTS:

The median age of sarcoma diagnosis was 45.7 years (range: 3 months to 87.4 years). A recurrent embryonal rhabdomyosarcoma (ERMS) of the broad ligament, first diagnosed at age 23 years, harboured biallelic pathogenic somatic DICER1 variants (1 truncating and 1 RNase IIIb missense). We identified nine other DICER1 variants. One somatic variant (p.L1070V) identified in a pleomorphic sarcoma and one germline variant (c.2257-7A>G) may be pathogenic, but the others are considered to be benign.

CONCLUSIONS:

We show that deleterious DICER1 mutations underlie the genetic basis of only a small fraction of sarcomas, in particular ERMS of the urogenital tract.

PMID:
28524158
PMCID:
PMC5518865
DOI:
10.1038/bjc.2017.147
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center