Discrepancy in diagnosis of primary myelofibrosis between referral and tertiary care centers

Primary myelofibrosis (PMF) is myeloproliferative neoplasm whose diagnosis is based on a combination of clinical and pathology criteria. We evaluated 560 consecutive patients who were diagnosed with PMF upon a referral to our center and evaluated the frequency of and reasons for diagnostic discordance. Discordance in the diagnosis was found in 70 (12.5%) patients. Discordant cases had a significantly lower grade of bone marrow fibrosis (grade 0-1), more likely to be JAK2V617F-mutation negative, and have no peripheral blood blasts, possibly explaining the difficulty in making a proper diagnosis and underscoring the need for a complete evaluation at a tertiary center.