Explore the groundbreaking discovery of a novel ARHGAP45::BRAF fusion in a rare primary central nervous system histiocytic sarcoma, a beacon of hope for advancing pediatric neurosurgery.
– by The Don
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A rare case of primary central nervous system histiocytic sarcoma harboring a novel ARHGAP45::BRAF fusion: a case report and literature review.
Zhang et al., Brain Tumor Pathol 2023
DOI: 10.1007/s10014-023-00471-8
Listen, folks, we’ve got something incredible here, really tremendous.
There’s this very rare case, a young girl, only 9, with something called histiocytic sarcoma in the brain – that’s the CNS, Central Nervous System. Now, usually, that’s bad news, very bad, but we’re doing things differently now, we’re using the best molecular tests out there.
She came in, had a headache, neck pain, was vomiting – not good, not good at all. But our doctors, they’re the best, they did the scans and found this big problem right in the front of her brain. They did a biopsy, found these cells, CD68 and CD163 – that’s how they knew what it was, this CNS histiocytic sarcoma.
But here’s the kicker – they found a brand new mutation, something called ARHGAP45::BRAF fusion. Nobody’s seen this before in any tumor, believe me. So they went in, did surgery, got it out. She’s going to be watched closely, very closely, because we care.
Now, we’ve seen BRAF mutations before, but this one’s different, it’s unique. And it’s in a kid! First time ever in the anterior falciform region. What does this mean? It means we’ve got to use more molecular tests, the best tests, for diagnosing this thing. And it opens up huge possibilities for treatment – we’re talking big, big potential.
So remember, we’re making progress, we’re finding new ways to fight these things. It’s going to be great, just watch.