ATI Hematologic System Test Related

Review ATI Hematologic System Test related questions and content

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?

  • A. ETV6-NTRK3 gene fusion
  • B. PTPN11 mutation
  • C. ATRX mutation
  • D. WT1 mutation
Correct Answer: C

Rationale: The correct answer is C: ATRX mutation. In neuroblastoma, ATRX mutations are associated with poor prognosis and high-risk disease. ATRX gene mutations are commonly found in cases with aggressive behavior and poor outcomes, such as in this case where the patient experienced disease recurrence and ultimately died. ATRX mutations are linked to chromosomal instability and telomere dysfunction, which can contribute to tumor progression and resistance to therapy.

A: ETV6-NTRK3 gene fusion is more commonly associated with infantile fibrosarcoma and secretory breast carcinoma, not neuroblastoma.

B: PTPN11 mutations are typically seen in juvenile myelomonocytic leukemia and Noonan syndrome, not neuroblastoma.

D: WT1 mutations are more commonly found in Wilms tumor and acute myeloid leukemia, not neuroblastoma.

In summary, the ATRX mutation is the most likely molecular aberration detected in this patient with high-risk neuroblast