Hairy cell leukaemia is characterised by which highly specific molecular marker used in targeted therapy?
- A BRAF V600E somatic mutation ✓
- B JAK2 V617F mutation
- C t(9;22) BCR-ABL1 translocation
- D FLT3 internal tandem duplication
Correct answer: A. BRAF V600E somatic mutation
Explanation
Hairy cell leukaemia harbours the BRAF V600E somatic mutation in virtually 100% of cases, making it a definitive diagnostic marker. The BRAF V600E mutation makes this disease sensitive to BRAF inhibitors (vemurafenib), which are used in relapsed/refractory cases. JAK2 V617F is characteristic of myeloproliferative neoplasms; BCR-ABL1 of CML; FLT3-ITD of AML.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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