Scholarlink

<p>Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to <i>NF2</i> pathogenic variants in<i>,</i> 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: <i>CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4</i>, and <i>TNRC6A</i>. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing <i>NF2</i>. 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Novel germline and somatic variants in familial and sporadic meningioma genes

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年5月15日

查看全文
  • Bouchra Ouled Amar Bencheikh,
  • Allison A. Dilliott,
  • Julie Gauthier,
  • Sandra Beatrice Laurent,
  • Amirthagowri Ambalavanan,
  • Dan Spiegelman,
  • Alexandre Dionne-Laporte,
  • Jaber Lyahyai,
  • Robert L. Martuza,
  • Jörn P. Sieb,
  • Sali M. K. Farhan,
  • Patrick A. Dion,
  • Stefan-M. Pulst,
  • Guy A. Rouleau

摘要

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.