DGCR8与神经鞘瘤病的六次打击、三步模型 - Suppr

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

作者信息

Nogué Clara, Chong Anne-Sophie, Grau Elia, Han HyeRim, Dorca Eduard, Roca Carla, Mosquera Jose Luis, Lázaro Conxi, Foulkes William D, Brunet Joan, Rivera Barbara

机构信息

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.

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

出版信息

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

DOI:10.1007/s00401-021-02387-z

PMID:34821987

Abstract

摘要

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Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.

Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20.

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Acta Neuropathol. 2021 Jan;141(1):101-116. doi: 10.1007/s00401-020-02230-x. Epub 2020 Oct 6.

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Acta Neuropathol. 2020 Jun;139(6):1115-1118. doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours.

Histopathology. 2013 Feb;62(3):499-504. doi: 10.1111/his.12021. Epub 2012 Nov 27.

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16.

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

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

Is there a link between COQ6 and schwannomatosis?

Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.

Response to Trevisson et al.

Genet Med. 2015 Apr;17(4):313-4. doi: 10.1038/gim.2014.212.

Detection of Germline Mutations of the SMARCB1 Gene in a Chinese Family with Intraspinal Schwannomatosis.

World Neurosurg. 2019 Mar;123:318-322. doi: 10.1016/j.wneu.2018.11.254. Epub 2018 Dec 18.

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Ann Neurol. 2016 Oct;80(4):625-8. doi: 10.1002/ana.24753. Epub 2016 Aug 13.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5.

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

Genet Med. 2014 Oct;16(10):787-92. doi: 10.1038/gim.2014.39. Epub 2014 Apr 24.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Neurology. 2015 Jan 13;84(2):141-7. doi: 10.1212/WNL.0000000000001129. Epub 2014 Dec 5.

A deep intronic SMARCB1 variant associated with schwannomatosis.

Clin Genet. 2020 Feb;97(2):376-377. doi: 10.1111/cge.13637. Epub 2019 Sep 9.

引用本文的文献

Fam Cancer. 2025 Aug 12;24(3):64. doi: 10.1007/s10689-025-00486-4.

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J Korean Neurosurg Soc. 2025 May;68(3):286-293. doi: 10.3340/jkns.2025.0001. Epub 2025 Mar 6.

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Clin Cancer Res. 2025 Apr 14;31(8):1491-1503. doi: 10.1158/1078-0432.CCR-24-2785.

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Cells. 2024 Mar 22;13(7):561. doi: 10.3390/cells13070561.

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J Clin Endocrinol Metab. 2024 Jun 17;109(7):1733-1744. doi: 10.1210/clinem/dgae034.

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Nat Rev Genet. 2023 Jul;24(7):442-463. doi: 10.1038/s41576-023-00574-0. Epub 2023 Feb 20.

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Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14.

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Hum Mutat. 2022 Oct;43(10):1368-1376. doi: 10.1002/humu.24424. Epub 2022 Jun 27.

本文引用的文献

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.

Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20.

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Acta Neuropathol. 2021 Jan;141(1):101-116. doi: 10.1007/s00401-020-02230-x. Epub 2020 Oct 6.

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Acta Neuropathol. 2020 Jun;139(6):1115-1118. doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours.

Histopathology. 2013 Feb;62(3):499-504. doi: 10.1111/his.12021. Epub 2012 Nov 27.

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16.

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

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