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DGCR8 and the six hit, three-step model of schwannomatosis

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References

  1. de Kock L, Rivera B, Foulkes WD (2020) Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8. Acta Neuropathol 139:1115–1118. https://doi.org/10.1007/s00401-020-02139-5

    Article  PubMed  Google Scholar 

  2. Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C et al (2021) Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. Genet Med 23:1779–1792. https://doi.org/10.1038/s41436-021-01175-0

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80:805–810. https://doi.org/10.1086/513207

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL et al (2018) Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore) 97:e9717. https://doi.org/10.1097/MD.0000000000009717

    Article  CAS  Google Scholar 

  5. Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN (2017) The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet 136:129–148. https://doi.org/10.1007/s00439-016-1753-8

    Article  CAS  PubMed  Google Scholar 

  6. Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S et al (2021) Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol 141:101–116. https://doi.org/10.1007/s00401-020-02230-x

    Article  CAS  PubMed  Google Scholar 

  7. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P et al (2014) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46:182–187. https://doi.org/10.1038/ng.2855

    Article  CAS  PubMed  Google Scholar 

  8. Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS et al (2020) DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Investig 130:1479–1490. https://doi.org/10.1172/JCI130206

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Serrano C, Simonetti S, Hernandez-Losa J, Valverde C, Carrato C, Bague S et al (2013) BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours. Histopathology 62:499–504. https://doi.org/10.1111/his.12021

    Article  PubMed  Google Scholar 

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Acknowledgements

We thank Mireia Menendez, Lili Fu for the IHCs, Thibaut Matis for their technical assistance with NGS experiments and Fernando Setien for technical assistance in generation of an immortalized cell line.

Funding

This project was partially supported by Alex’s Lemonade Stand Foundation (ALSF) and Fundación Mutua Madrileña (BR). B.R holds a Junior Leader Fellowship (LCF/BQ/PI19/11690009) from La Caixa Foundation (ID100010434). BR is part of the SGR2017-1282.

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Authors and Affiliations

  1. Molecular Mechanisms and Experimental Therapy in Oncology Program (Oncobell), Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Avinguda de la Granvia de L’Hospitalet, 199, 08908, Barcelona, Spain

    Clara Nogué, Elia Grau, HyeRim Han, Carla Roca, Jose Luis Mosquera, Conxi Lázaro & Barbara Rivera

  2. Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada

    Anne-Sophie Chong, William D. Foulkes & Barbara Rivera

  3. Department of Human Genetics, McGill University, Montreal, QC, Canada

    Anne-Sophie Chong & William D. Foulkes

  4. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Hospitalet de Llobregat, Badalona, Girona, Spain

    Elia Grau, Conxi Lázaro, Joan Brunet & Barbara Rivera

  5. Pathology Department, Bellvitge Universitary Hospital, L’Hospitalet de Llobregat, Barcelona, Spain

    Eduard Dorca

  6. Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Madrid, Spain

    Conxi Lázaro & Joan Brunet

  7. Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada

    William D. Foulkes & Barbara Rivera

  8. Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain

    Joan Brunet

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  1. Clara Nogué
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  2. Anne-Sophie Chong
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  3. Elia Grau
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  4. HyeRim Han
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  8. Conxi Lázaro
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  9. William D. Foulkes
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  10. Joan Brunet
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  11. Barbara Rivera
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Correspondence to Barbara Rivera.

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Nogué, C., Chong, AS., Grau, E. et al. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol 143, 115–117 (2022). https://doi.org/10.1007/s00401-021-02387-z

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