• Seon Young Kim, Kyongok Im, Si Nae Park, Jiseok Kwon, Jung-Ah Kim, and Dong Soon Lee.
• From the Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea; and.
• Am. J. Clin. Pathol. 2015 May 1; 143 (5): 635-44.

ObjectivesWe investigated mutation profiles of CALR, JAK2, and MPL in 199 Korean patients with myeloproliferative neoplasms (MPNs).MethodsIn total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], 58 polycythemia vera [PV], and eight MPN-unclassifiable [MPN-U]) and 4 patients with acute panmyelosis with myelofibrosis (APMF) were retrospectively subjected to Sanger sequencing for CALR, JAK2, and MPL.ResultsThe overall frequency of CALR mutations was 12.6% (type 1 mutation, 16 patients; type 2 mutation, nine patients): most frequent in MPN-U (37.5%), followed by ET (17.7%) and PMF (14.8%). CALR mutations were not found in PV or APMF. CALR and JAK2 or MPL mutations were mutually exclusive. In PMF, the CALR mutations were associated with lower levels of leukocytes, lower bone marrow cellularity, and higher number of megakaryocytes. Patients with CALR-mutated ET more frequently progressed to the accelerated or blast phases compared with patients with JAK2 mutations. CALR mutations were frequently observed in the JAK2-negative MPNs, most frequently in MPN-U.ConclusionsThe prognostic significance of CALR mutations likely differs among the MPN subtypes.Copyright© by the American Society for Clinical Pathology.

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