A 70 year old female has had gradually worsening anemia for the past five years. Recently, she has developed thrombocytopenia as well, and complains of abdominal discomfort. Physical examination reveals a spleen palpable 6 cm below the costal margin. A bone marrow biopsy is performed; the image shows an H&E stained section of the core biopsy (the aspirate was a “dry tap” and was non-contributory). Which of the following ancillary studies would be most useful in confirming the diagnosis?
a. PCR for JAK2 V617F mutation
b. PCR for C-KIT D816V mutation
c. PCR for BRAF V600E mutation
d. FISH for t(9;22)
e. FISH for del(5q)
Check answer here.
Source: BoardVitals, 11/12/2013