YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class “embryonal tumor with multilayered rosettes, non-C19MC-altered” in the Heidelberg central nervous system tumor classifier and “embryonal tumor with multilayered rosettes-DI
Catherine Godfraind, Nabil Djebbour, Romain Appay, Anne Pagnier, Raia Doumit, Julien Masliah-Planchon, Fabien Forest, Fanny Burel-Vandenbos, Jean Boutonnat, Berengere Dadone-Montaudié · 2025
Read YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class “embryonal tumor with multilayered rosettes, non-C19MC-altered” in the Heidelberg central nervous system tumor classifier and “embryonal tumor with multilayered rosettes-DI by Catherine Godfraind, Nabil Djebbour, Romain Appay, Anne Pagnier, Raia Doumit, Julien Masliah-Planchon, Fabien Forest, Fanny Burel-Vandenbos, Jean Boutonnat, Berengere Dadone-Montaudié (2025) 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-12723895.txt.
Description
Catherine Godfraind and co-authors report an infant brain tumor carrying a gene fusion never before tied to its tumor class. Embryonal tumors with multilayered rosettes strike children under two and are sorted by gene marks and methylation class. A small share lack the two known gene marks, leaving their identity unsure.
The tumor sat in the back of a five-month-old's brain. Under the microscope it looked embryonal, with a focal stain for the class marker, yet it held neither classic gene change. Methylation sorting still placed it in the expected class on one system and a sister class on another. Gene hunting then found a YAP1 and MAML2 fusion, a fresh anomaly for this class. The case widens the gene map doctors should check when standard marks come back blank.
Catalog record
| CREATOR | Catherine Godfraind, Nabil Djebbour, Romain Appay, Anne Pagnier, Raia Doumit, Julien Masliah-Planchon, Fabien Forest, Fanny Burel-Vandenbos, Jean Boutonnat, Berengere Dadone-Montaudié |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |