Question

Patient with cytopenia, splenomegaly, and atypical "hairy" lymphocytes. Dx? Mutation?

a) Hairy cell leukemia; BRAF mutation
b) Chronic myeloid leukemia; BCR-ABL fusion gene
c) Myelodysplastic syndrome; JAK2 mutation
d) Acute lymphoblastic leukemia; Philadelphia chromosome

Answer 1

The correct diagnosis for a patient with cytopenia, splenomegaly, and 'hairy' lymphocytes is Hairy cell leukemia, which is commonly associated with a BRAF mutation(option a).

Step-by-step explanation:

The patient with cytopenia, splenomegaly, and atypical "hairy" lymphocytes is most likely to be diagnosed with Hairy cell leukemia; The associated genetic mutation is typically a BRAF mutation.

Chronic myeloid leukemia is associated with the BCR-ABL fusion gene, myelodysplastic syndrome with JAK2 mutation, and acute lymphoblastic leukemia with the Philadelphia chromosome, none of which present with the 'hairy' lymphocytes characteristic of hairy cell leukemia.

Therefore , the correct answer is option a) Hairy cell leukemia; BRAF mutation.