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Case Reports
. 2022 Jan;143(1):115-117.
doi: 10.1007/s00401-021-02387-z. Epub 2021 Nov 25.

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

Clara Nogué  1 , Anne-Sophie Chong  2   3 , Elia Grau  1   4 , HyeRim Han  1 , Eduard Dorca  5 , Carla Roca  1 , Jose Luis Mosquera  1 , Conxi Lázaro  1   4   6 , William D Foulkes  2   3   7 , Joan Brunet  4   6   8 , Barbara Rivera  9   10   11   12
Affiliations
Case Reports

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

Clara Nogué et al. Acta Neuropathol. 2022 Jan.
No abstract available

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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 - DOI - PubMed
    1. 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 - DOI - PubMed - PMC
    1. 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 - DOI - PubMed - PMC
    1. 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 - DOI
    1. 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 - DOI - PubMed

Supplementary concepts

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