Atypical cellular neurothekeoma: a case report with a novel NF1 mutation
Valli de la Guardia, Edgardo Castro-Pérez, Ana I Porcell, Sara González de Tena-Dávila, Marina Pacheco · 2024
Read Atypical cellular neurothekeoma: a case report with a novel NF1 mutation by Valli de la Guardia, Edgardo Castro-Pérez, Ana I Porcell, Sara González de Tena-Dávila, Marina Pacheco (2024) 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-11583657.txt.
Description
De la Guardia and co-authors report a rare benign skin tumor in a forty-nine-year-old woman's arm, in a 2024 case report. Atypical cellular neurothekeoma usually appears on the head, neck, or shoulders of young women, and its alarming look under the microscope often leads to a mistaken cancer diagnosis.
The team describes the tumor's microscopic features and staining profile in detail. Genetic testing found a previously unreported mutation in the NF1 gene, predicted to disable it. Because the cause of this tumor type is unknown, the authors suggest the mutation may illuminate how it arises and sharpen future diagnosis.
Catalog record
| CREATOR | Valli de la Guardia, Edgardo Castro-Pérez, Ana I Porcell, Sara González de Tena-Dávila, Marina Pacheco |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |