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Dentistry · Oral pathology: cysts and odontogenic tumours: BRAF mutation in ameloblastoma
Sample itemA recurrent conventional ameloblastoma of the mandible is tested for molecular alterations. A MAPK pathway driver that can be targeted with vemurafenib or dabrafenib is found. Which alteration is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. BRAF V600E mutation
BRAF V600E is the commonest driver mutation in conventional mandibular ameloblastoma, activating the MAPK pathway. BRAF inhibitors have produced responses in recurrent or unresectable cases. PTCH1 loss characterises the keratocyst in Gorlin syndrome.
Option by option
A. KRAS G12D mutation
KRAS mutations are not the usual target of vemurafenib or dabrafenib.
B. PTCH1 deletion
PTCH1 deletion is linked to the keratocyst and basal cell carcinoma, not to these drugs.
C. KIT D816V mutation
KIT mutations are seen in gastrointestinal stromal tumours and mastocytosis.
D. BRAF V600E mutation (correct)
Correct. BRAF V600E is common in ameloblastoma and responds to BRAF inhibitors.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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