Skip to main content

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

This is a preview of subscription content, access via your institution.

Fig. 1


  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.

    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.

    CAS  Article  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.

    CAS  Article  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.

    CAS  Article  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.

    CAS  Article  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.

    CAS  Article  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.

    CAS  Article  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.

    CAS  Article  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.

    Article  PubMed  Google Scholar 

Download references


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.


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.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Barbara Rivera.

Ethics declarations

Conflict of interest

The authors have no conflicts of interest to disclose.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 717 KB)

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Nogué, C., Chong, AS., Grau, E. et al. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol 143, 115–117 (2022).

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: