Adrenal incidentaloma and the Janus Kinase 2 V617F mutation: A case-based review of the literature
The JAK2 V617F mutation was heterozygous positive for a 37-year-old female patient who was evaluated for thrombocytosis etiology (platelet count was 1.560.000/m3). The patient had been taking medication (anagrelide 2 mg/day and acetylsalicylic acid 80 mg/day) for ET for two years and had no other illnesses. Additionally, she was having regular menstrual cycles. The patient's mother had hypertension, but there were no other medical concerns in the family history. She was admitted with non-specific abdominal pain, and the findings of the physical examination were as follows: Blood pressure, 110/70 mmHg; heart rate, 80 beats/minute; and BMI, 21.7 kg/m2. There was no abdominal tenderness, defense reaction, or rebound. Her complaints were incompatible with premenstrual syndrome or periodic pain syndromes, such as Familial Mediterranean Fever (FMF).\nThe abdominal ultrasonography (USG), performed due to complaints of abdominal pain, detected a nodular lesion at the left suprarenal region of 1 cm in diameter. The contrast-enhanced upper abdominal tomography performed as a result of the USG findings showed a nodular lesion that was 11 × 8 mm. in diameter and minimally-enhanced. This was compatible with a well-circumscribed, regular contoured adenoma. The density of the nodule was 10 Hounsfield units, and it was interpreted as a radiologically benign adenoma. A low-dose dexamethasone suppression cortisol level of 1 mcg/dl was determined to be normal. The levels of serum DHEA-S, testosterone, metanephrine, normetanephrine, VMA at 24 hrs urine, and the plasma aldosterone/rennin activity ratio were normal. The patient was admitted for follow-up for non-functional adrenal incidentaloma, and she experienced no problems over the 15-month follow-up period.