Purpose <p>In the present study, a systematic revision in the Medline was conducted to determine the somatic mutation in gangliogliomas.</p> Methods <p>A Medline search for relevant publications up to October 2024 using the key phrase “ganglioglioma mutation” led to the retrieval of 297 studies. This corpus provided the basis for the present review. The records without abstract or descriptions of somatic mutations were excluded. Only records in the English language were considered.</p> Results <p>A total of 43 papers were evaluated, reporting a total of 1360 cases of ganglioglioma. Among them, 528 cases presented mutations in 6 genes: <i>BRAF</i><sup><i>V600E</i></sup>,<i> FGFR1</i>,<i> H3K27M</i>,<i> KRAS</i>,<i> IDH1</i>, and<i> RAF1</i>. The most common mutation was <i>BRAF</i><sup><i>V600E</i></sup> present in 36.94%, followed by the mutation in <i>FGFR1</i>, reported in 1.18% of cases.</p> Conclusion <p><i>BRAF</i><sup><i>V600E</i></sup> mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as <i>FGFR1</i>, <i>H3K27M</i>, <i>KRAS</i>, <i>IDH1</i>, and <i>RAF1</i>, were rare.</p>

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Molecular features in gangliogliomas: a systematic review

  • Benedito Jamilson Araújo Pereira,
  • Sueli Mieko Oba-Shinjo,
  • Ivy Karoline Herculano de Azevedo,
  • Yuri Reis Casal,
  • Wen Hung Tzu,
  • Antônio Nogueira de Almeida,
  • Wellingson Silva Paiva,
  • Suely Kazue Nagahashi Marie

摘要

Purpose

In the present study, a systematic revision in the Medline was conducted to determine the somatic mutation in gangliogliomas.

Methods

A Medline search for relevant publications up to October 2024 using the key phrase “ganglioglioma mutation” led to the retrieval of 297 studies. This corpus provided the basis for the present review. The records without abstract or descriptions of somatic mutations were excluded. Only records in the English language were considered.

Results

A total of 43 papers were evaluated, reporting a total of 1360 cases of ganglioglioma. Among them, 528 cases presented mutations in 6 genes: BRAFV600E, FGFR1, H3K27M, KRAS, IDH1, and RAF1. The most common mutation was BRAFV600E present in 36.94%, followed by the mutation in FGFR1, reported in 1.18% of cases.

Conclusion

BRAFV600E mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as FGFR1, H3K27M, KRAS, IDH1, and RAF1, were rare.