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Implications of the 5th Edition of the World Health Organization Classification and International Consensus Classification of Myeloid Neoplasm in Myelodysplastic Syndrome With Excess Blasts and Acute Myeloid Leukemia
2023; 43(5): 503-507
Article
Brief Communication
Ann Lab Med 2015; 35(2): 233-237
Published online March 1, 2015 https://doi.org/10.3343/alm.2015.35.2.233
Copyright © Korean Society for Laboratory Medicine.
Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Sang Hyuk Park, M.D.1,2, Shine Young Kim, M.D.1,2, Sun Min Lee, M.D.3, Jongyoun Yi, M.D.1,2, In-Suk Kim, M.D.3,
Hyung Hoi Kim, M.D.1,2, Chulhun Ludgerus Chang, M.D.3, Eun Yup Lee, M.D.1,2, Moo-Kon Song, M.D.2,4, Ho-Jin Shin, M.D.2,4, and Joo Seop Chung, M.D.2,4
Department of Laboratory Medicine1, Pusan National University School of Medicine, Pusan National University Hospital, Busan; Biomedical Research Institute2, Pusan National University Hospital, Busan; Department of Laboratory Medicine3, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan; Division of Hematology-Oncology4, Department of Internal Medicine, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea
Correspondence to: Eun Yup Lee
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 602-739, Korea
Tel: +82-51-240-7419
Fax: +82-51-247-6560
E-mail: eylee@pusan.ac.kr
Received: July 23, 2014; Revised: September 18, 2014; Accepted: December 16, 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CALR mutation status, and their clinical features and prognosis were compared. CALR mutations were detected in 15 (24.2%) patients, and the incidence increased to 50.0% in 30 JAK2 V617F mutation-negative cases. These included 11 patients with three known mutations (c.1092_1143del [seven cases], c.1154_1155insTTGTC [three cases], and c.1102_1135del [one case]) and 4 patients with novel mutations. ET patients carrying CALR mutation were younger, had lower white blood cell counts, and experienced less thrombosis during follow-up than those carrying JAK2 V617F mutation, while both patient groups showed similar clinical features and prognosis. In ET patients without JAK2 V617F mutation, CALR mutation did not significantly affect clinical manifestation and prognosis. In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. The prognostic impact of CALR mutations needs further investigation.
Keywords: CALR, Clinical feature, Essential thrombocythemia, Incidence, Mutation, Primary myelofibrosis, Prognosis