Q:

What genetic test can be used to confirm the diagnosis?

0

A LJ9-year-old male presen ted for further evaluation secondary to weakness and fatigue. Physical examination revealed splenomegaly with no peripheral lymphadenopathy. Labo-ratory workup showed leukocyte count of 1 8 , 500/pl. hemoglobin of 9.3 g/dl. and platelet count of 11 Q.OOO/pl. Peripheral .blood smear is shown below.

What genetic test can be used to confirm the diagnosis?


  1. Testing for KIT mutations
  2. Testing for RAS mutations
  3. Testing for EGFR mutations
  4. Testing for ALK mutations
  5. Testing for BRAF mutations

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E. Mutations in BRAF have been detected in nearly 100% ofHCL cases and can be used as a diagnostic test to differentiate HCL from other lymphoproliferative disorders (NEJM. 201 1; 364(24):2305, Br J Haematol. 201 1; 155(5):609, Blood. 2012;1 19(1):188, Blood. 20 12;1 19(1):192).

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