SM is a 76 y/o woman who visits her primary care physician for her annual checkup. She reports having fatigue, occasional night sweats and abdominal discomfort under left rib for the past 2 months. She also mentioned that she feels pain in her bones, but she just attributes that to her “old age.”
SM spends most of her days gardening followed by baking, her 2 favorite activities. Lately, she feels tired after just spending 1 hour gardening and has no energy to bake afterwards.
Since her last examination a year ago, SM has lost close to 12 lbs. She says she has not been dieting and has not noticed a change in her eating habits.
PMH:
Hypertension (controlled)
Glaucoma
Asthma (controlled with inhalers)
SMH: (-) nonsmoker; has an occasional drink during book club with her girlfriend
FH: she lives alone but her daughter and sister live close by; no family history of cancer
Current Labs: (baseline labs were within normal limits at her last examination one year ago)
Platelet count: 44 x 109/L
Hgb: 8g/dL
WBC count: 27 x 109/L
Bone Marrow Biopsy
Shows a hypercellular bone marrow, increase in atypical appearing megakaryocytes and MF-2 fibrosis, no increase in blasts by CD34+ IHC, aspirate without spicules
Molecular testing
JAK-V617F mutation: positive at 44%, NGS panel only identified TET2 mutation at a VAF of 17%
Treatment
SM complaining of increasing fatigue and abdominal pain and on PE, shows splenomegaly
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