Hairy cell leukemia is characterised by which specific mutation that also serves as a therapeutic target?

• A JAK2 V617F
• B NPM1 mutation
• C FLT3-ITD
• D BRAF V600E ✓

Explanation

Virtually all classic hairy cell leukemia cases harbor the BRAF V600E point mutation, making it pathognomonic. This activates the MAPK/ERK pathway. Vemurafenib (a BRAF inhibitor) is effective in relapsed/refractory disease. JAK2 V617F is characteristic of myeloproliferative neoplasms; NPM1 and FLT3-ITD mutations occur in AML.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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