Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome-Reference-Cited by-同舟云学术

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome

Published:2016-11-28 Issue:3 Volume:16 Page:401-405
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Fremerey Julia,Balzer Stefan,Brozou Triantafyllia,Schaper Joerg,Borkhardt Arndt,Kuhlen Michaela^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/article/10.1007/s10689-016-9958-5/fulltext.html

Reference10 articles.

1. Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14(10):662–672. doi: 10.1038/nrc3802

2. Brenneman M, Field A, Yang J, Williams G, Doros L, Rossi C et al (2015) Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Research 4:214. doi: 10.12688/f1000research.6746.1

3. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D et al (2009) DICER1 mutations in familial pleuropulmonary blastoma. Science 325(5943):965. doi: 10.1126/science.1174334

4. de Kock L, Druker H, Weber E, Hamel N, Traubici J, Malkin D et al (2015) Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. Hum Pathol 46(6):917–922. doi: 10.1016/j.humpath.2015.02.008

5. Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski J et al (2012) DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer 59(3):558–560. doi: 10.1002/pbc.24020

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