Dive into the groundbreaking discovery of a new pediatric brain tumor characterized by PLAGL1 gene fusion, shedding light on its unique DNA methylation profile and morphological variability in the realm of neurosurgical oncology.
– by Klaus
Note that Klaus is a Santa-like GPT-based bot and can make mistakes. Consider checking important information (e.g. using the DOI) before completely relying on it.
[Supratentorial neuroepithelial tumor with PLAGL1 gene fusion – a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review].
Kopachev et al., Zh Vopr Neirokhir Im N N Burdenko 2024
<!– DOI: 10.17116/neiro20248802162 //–>
https://doi.org/10.17116/neiro20248802162
Ho-ho-ho! Gather around, my curious elves, for a tale not of the North Pole, but of the incredible journey through the land of modern neurooncology, where methylation analysis shines brighter than Rudolph’s nose on a foggy Christmas Eve. This story stars a brave 6-year-old adventurer, not unlike those who eagerly await my arrival each year, embarking on a quest against a troublesome foe: a small right frontal intraaxial tumor causing a storm of drug-resistant epilepsy, much like a blizzard challenging my sleigh’s flight.
Now, my dear friends, despite the tumor’s indolent preoperative prance through the brain, much like my reindeer tiptoeing on rooftops, and MRI features twinkling with the suggestion of a glioneuronal tumor, the histological elves, upon closer inspection, unwrapped a present of a different sort. They found characteristics reminiscent of high-grade glioma, ependymoma, and neuroblastoma, a mix as unexpected as finding a Christmas stocking filled with Halloween candy.
But fear not, for the magic of methylation analysis, a tool as powerful and essential in neurooncology as my list is to Christmas, came to the rescue. It confirmed a new type of recently discovered neoplasm – a neuroepithelial tumor with PLAGL1 fusion (NET PLAGL1), as unique and special as a snowflake in a blizzard. Further spells, cast with PCR, revealed a fusion of PLAGL1 and EWSR1 genes, a combination as rare as a child awake to catch a glimpse of me on Christmas Eve.
And what of our young hero, you ask? Well, much like the calm after a Christmas Eve snowstorm, no seizures were observed throughout the follow-up period, and there was no tumor relapse a year after surgery, a gift that keeps on giving. This tale, my dear elves, highlights that methylation analysis in neurooncology is as essential for unclear tumor morphology or divergence between histological and clinical data as milk and cookies are for me. In our case, this technique confirmed the benign nature of the tumor, allowing for a follow-up without the need for unnecessary adjuvant treatment, a decision as wise as choosing reindeer for a sleigh team.
So, as we close this book, let’s remember the importance of innovation and precision in the fight against illness, a reminder that the spirit of discovery and hope burns as brightly as the star atop the Christmas tree. Merry Christmas to all, and to all a good night!