0
A 7 8-year-old female patien t presen ts with fatigue and weakness . On physical exam. she has splenomegaly. CBC shows leukocyte count of 1 5 , LJOO/pl with 38% monocytes and 22% eosinophi ls; hemoglobin is 1 0.3 g/d l and platelet count is 1 LJ3.000/pl. The blood smear is depicted below.
Further testing reveals a t(5;12)(q33-ql 3;pl2) translocation. What gene rearrangement is associ-ated with this translocation?
- RUNXl
- NOTCHl
- HOX l l
- PDGFRB
Medicine
D. t(5;12)(q3 1-q33;pl2) is associated with the formation of an PDGRB-ETV6 fusion gene, which has been reported in association with CMML, usually with eosinophilia. The WHO classifica-tion includes a category for rearrangements affecting PDGFRA, PDGFRB, or FGFRl. This is a sepa-rate entity from CMML, which is now included in the category of "myeloproliferative/myelodysplastic neoplasms:' RUNXl is associated with AML, whereas NOTCH I and HOXl l have been found to play a role in T-lymphoblastic leukemia/lymphoma.
need an explanation for this answer? contact us directly to get an explanation for this answer