Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
Authorde Kock, L; Rivera, B; Revil, T; Thorner, P; Goudie, C; Soglio, DB-D; Choong, CS; Priest, JR; van Diest, PJ; Tanboon, J; ...
Source TitleBritish Journal of Cancer
PublisherNATURE PUBLISHING GROUP
University of Melbourne Author/sChoong, Peter
AffiliationSurgery (St Vincent's)
Document TypeJournal Article
Citationsde Kock, L., Rivera, B., Revil, T., Thorner, P., Goudie, C., Soglio, D. B. -D., Choong, C. S., Priest, J. R., van Diest, P. J., Tanboon, J., Wagner, A., Ragoussis, J., Choong, P. F. M. & Foulkes, W. D. (2017). Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. BRITISH JOURNAL OF CANCER, 116 (12), pp.1621-1626. https://doi.org/10.1038/bjc.2017.147.
Access StatusOpen Access
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.
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