Nokea
An otherwise healthy 18-year-old female is diagnosed with high-risk neuroblastoma after presenting with fatigue and bony pain. Imaging findings demonstrate a left adrenal mass with multiple osseous metastases. She successfully completes standard therapy for high-risk neuroblastoma, but experiences several episodes of disease recurrence and ultimately dies of her disease 10 years after her initial diagnosis. During her treatment, her tumor was sent for molecular analysis. Of the following, what molecular aberration was most likely to have been detected?
Correct Answer: C
Rationale: The correct answer is C: ATRX mutation. In neuroblastoma, ATRX mutations are associated with poor prognosis and increased risk of disease recurrence. This mutation disrupts chromatin remodeling, leading to genomic instability and aggressive tumor behavior. ETV6-NTRK3 gene fusion (Choice A) is more commonly associated with pediatric mesenchymal tumors. PTPN11 mutation (Choice B) is typically found in Noonan syndrome and other malignancies, not neuroblastoma. WT1 mutation (Choice D) is more commonly seen in Wilms tumor, not neuroblastoma. In summary, the ATRX mutation is the most likely molecular aberration detected in this case based on the clinical presentation and outcomes of the patient.