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NPJ genomic medicine. 2025 May 15;10(1):41. doi: 10.1038/s41525-025-00494-4 Q14.82025

Novel germline and somatic variants in familial and sporadic meningioma genes

家族性和散发性脑膜瘤的新型胚系和体细胞变异基因 翻译改进

Bouchra Ouled Amar Bencheikh  1  2, Allison A Dilliott  3  4, Julie Gauthier  5, Sandra Beatrice Laurent  3  4, Amirthagowri Ambalavanan  3  4, Dan Spiegelman  3  6, Alexandre Dionne-Laporte  3  6, Jaber Lyahyai  7, Robert L Martuza  8  9, Jörn P Sieb  10  11, Sali M K Farhan  3  4  6, Patrick A Dion  3  4  6, Stefan-M Pulst  12, Guy A Rouleau  13  14  15

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作者单位

  • 1 Montreal Neurological Institute, McGill University, Montréal, QC, Canada. bouchra.ouledamar@muhc.mcgill.ca.
  • 2 Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. bouchra.ouledamar@muhc.mcgill.ca.
  • 3 Montreal Neurological Institute, McGill University, Montréal, QC, Canada.
  • 4 Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
  • 5 Molecular Diagnostic Laboratory and Division of Medical Genetics, CHU Sainte-Justine, Montreal, QC, Canada.
  • 6 Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • 7 Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Morocco.
  • 8 Molecular Neurosurgery Laboratory and the Brain Tumor Research Center, Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
  • 9 Department of Neurosurgery, Harvard Medical School, Boston, MA, USA.
  • 10 Department of Neurology, HELIOS Hanseklinikum Stralsund, Stralsund, Germany.
  • 11 Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • 12 Department of Neurology, University of Utah, Salt Lake City, UT, USA.
  • 13 Montreal Neurological Institute, McGill University, Montréal, QC, Canada. guy.rouleau@mcgill.ca.
  • 14 Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. guy.rouleau@mcgill.ca.
  • 15 Department of Human Genetics, McGill University, Montréal, QC, Canada. guy.rouleau@mcgill.ca.

    • DOI: 10.1038/s41525-025-00494-4 PMID: 40374631

    摘要 中英对照阅读

    Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screened for germline and somatic variants in these genes and 11 known meningioma genes in 76 sporadic meningiomas blood/tumor pairs. We identified 18 germline and 58 somatic variants in 18 of the 20 genes, including seven of our newly proposed meningioma genes: CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4, and TNRC6A. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing NF2. This study provides potential novel genetic risk factors of meningiomas appropriate for further exploration from the greater scientific community and pathways to consider in the design of future therapeutic approaches.

    Keywords：germline variants; somatic variants; meningioma genes

    脑膜瘤起源于大脑和脊髓周围脑膜中的蛛网膜细胞，并且在大约60%的病例中与NF2致病变异相关。通过外显子组测序，我们在四个家族和四个散发性病例中发现了九个潜在新发脑膜瘤基因上的杂合生殖系变异。随后，我们筛选了这些基因以及11个已知的脑膜瘤基因，在76对散发性脑膜瘤血液/肿瘤样本中的生殖系和体细胞变异。我们在20个基因中的18个中发现了18种生殖系变异和58种体细胞变异，包括我们新提出的七种脑膜瘤基因：CSMD3、EXTL3、FAT3、RAB44、RARA、RECQL4和TNRC6A。在携带生殖系或体细胞变异的49个肿瘤中，有39个发现了染色体异常，其中71.8%涉及NF2。这项研究为脑膜瘤提供了潜在的新遗传风险因素，适合科学界进一步探索，并提出了未来治疗方案设计时应考虑的途径。

    关键词：胚系变异; 体细胞变异; 脑膜瘤基因

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    期刊名：Npj genomic medicine

    缩写：NPJ GENOM MED

    ISSN：N/A

    e-ISSN：2056-7944

    IF/分区：4.8/Q1

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    Novel germline and somatic variants in familial and sporadic meningioma genes