Diagnosis of Leptomeningeal Disease in Diffuse Midline Gliomas by Detection of <i>H3F3A</i> K27M Mutation in Circulating Tumor DNA of Cerebrospinal Fluid
This study provides evidence that detecting H3F3A K27M-mutant droplets in CSF ctDNA is diagnostic for LMD and is more sensitive than traditional methods such as CSF cytology and MR imaging.
Authors
- Soichi Oya (ORCID: https://orcid.org/0000-0002-0842-5092)
- Akiyoshi Kakita (ORCID: https://orcid.org/0000-0003-4244-0277)
- Mari Tada (ORCID: https://orcid.org/0000-0003-1485-0703)
- Satoshi Nakata (ORCID: https://orcid.org/0000-0003-2462-3432)
- Hiroshi Shimizu (ORCID: https://orcid.org/0000-0002-4869-502X)
- Jotaro On (ORCID: https://orcid.org/0000-0001-5887-7153)
- Yuki Tanaka (ORCID: https://orcid.org/0000-0002-0115-500X)
- Jun Watanabe (ORCID: https://orcid.org/0000-0001-9474-2483)
- Hiroyuki Kawashima (ORCID: https://orcid.org/0000-0001-9511-9773)
- Manabu Natsumeda (ORCID: https://orcid.org/0000-0003-3098-8323)
- Kouichirou Okamoto (ORCID: https://orcid.org/0000-0001-7737-1596)
- Akihide Koyama (ORCID: https://orcid.org/0009-0003-1508-8586)
- Yoshihiro Tsukamoto (ORCID: https://orcid.org/0000-0002-2311-5367)
- Masayasu Okada (ORCID: https://orcid.org/0000-0002-9151-8184)
- Makoto Oishi (ORCID: https://orcid.org/0000-0002-7060-6396)
- Junko Murai (ORCID: https://orcid.org/0000-0003-2023-6160)
- Satoshi Shibuma
- Masaki Mitobe
- Haruhiko Takahashi (ORCID: https://orcid.org/0000-0002-1214-1826)
- Junichi Yoshimura
Institutions
- Gunma University (JP)
- Ehime University (JP)
- Niigata University (JP)
Publication Details
- Journal
- Pediatric Blood & Cancer
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1002/pbc.31535
- Citations
- 3
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 4.88
Funders
- Japan Society for the Promotion of Science