10141-GMC-13 MULTIREGIONAL GENOMIC ANALYSIS: A NOVEL APPROACH FOR DETECTING PATHOGENIC DRIVER MUTATION ASSOCIATED WITH MALIGNANT PROGRESSION IN NEUROCUTANEOUS MELANOSIS
Haruhiko Takahashi, Manabu Natsumeda, Yoshihiro Tsukamoto, Masayasu Okada, Norikazu Hara, Akihide Koyama, Akinori Miyashita, Akihiko Yuki, Hiroshi Shimizu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Oishi · 2023
Read 10141-GMC-13 MULTIREGIONAL GENOMIC ANALYSIS: A NOVEL APPROACH FOR DETECTING PATHOGENIC DRIVER MUTATION ASSOCIATED WITH MALIGNANT PROGRESSION IN NEUROCUTANEOUS MELANOSIS by Haruhiko Takahashi, Manabu Natsumeda, Yoshihiro Tsukamoto, Masayasu Okada, Norikazu Hara, Akihide Koyama, Akinori Miyashita, Akihiko Yuki, Hiroshi Shimizu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Oishi (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10710639.txt.
Description
Haruhiko Takahashi and ten co-authors read genes across many body sites in a rare childhood disease, in a study from twenty twenty-three. The disease joins large skin moles with growth of pigment cells in the brain's lining, and it can turn malignant. Its origins were murky and no standard treatment exists.
Their case was a three-year-old girl whose illness spread fatally through a brain shunt into the abdomen. Sequencing of brain and abdominal tumors, mole, and normal tissue found far more mutations in tumors. Three harmful mutations stood out. Two appeared in both tumor and normal tissue but at far higher levels in tumors. The third appeared only in the abdominal tumor, marking the malignant turn. The authors propose wider multi-site sequencing to find drivers.
Catalog record
| CREATOR | Haruhiko Takahashi, Manabu Natsumeda, Yoshihiro Tsukamoto, Masayasu Okada, Norikazu Hara, Akihide Koyama, Akinori Miyashita, Akihiko Yuki, Hiroshi Shimizu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Oishi |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 2 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |