A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report
Magdalena Mierzwa, Małgorzata Blaska, Marek Hamm, Agnieszka Czarniecka, Jolanta Krajewska, Anna Taczanowska-Niemczuk, Agnieszka Zachurzok, Mikko Hallman · 2023
Read A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report by Magdalena Mierzwa, Małgorzata Blaska, Marek Hamm, Agnieszka Czarniecka, Jolanta Krajewska, Anna Taczanowska-Niemczuk, Agnieszka Zachurzok, Mikko Hallman (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-10741967.txt.
Description
Mierzwa and co-authors report a 4-year-old boy found by chance to carry two rare gene changes. One change sits in the RET gene and causes MEN2B, a syndrome with early thyroid cancer. The other sits in the RyR1 gene, linked to muscle disease and a risk with anesthesia.
Testing began because of short stature and slow motor growth, and the mixed signs slowed diagnosis. Scans of his thyroid looked normal, but a blood marker was high at 34, far above the normal limit. Surgeons removed the thyroid, and lab checks confirmed medullary thyroid cancer.
Catalog record
| CREATOR | Magdalena Mierzwa, Małgorzata Blaska, Marek Hamm, Agnieszka Czarniecka, Jolanta Krajewska, Anna Taczanowska-Niemczuk, Agnieszka Zachurzok, Mikko Hallman |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |