Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia
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Min-Gu Kang1,2,*, Hyun-Woo Choi1,*, Jun Hyung Lee1, Yong Jun Choi1, Hyun-Jung Choi1, Jong-Hee Shin1, Soon-Pal Suh1, Michael Szardenings4, Hye-Ran Kim5, Myung-Geun Shin1,2,3
1Departments of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun-eup, Hwasun-gun, Jeollanam-do, South Korea
2Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, South Korea
3Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun-eup, Hwasun-gun, Jeollanam-do, South Korea
4Department of Cell Therapy, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany
5College of Korean Medicine, Dongshin University, Naju, Jeollanam-do, South Korea
*Min-Gu Kang and Hyun-Woo Choi contributed equally to this work
Hye-Ran Kim, email: firstname.lastname@example.org
Myung-Geun Shin, email: email@example.com
Keywords: calreticulin, coexistence, essential thrombocythemia, Janus kinase 2, myeloproliferative disorders
Received: April 15, 2016 Accepted: July 19, 2016 Published: July 30, 2016
Janus kinase 2 (JAK2) and calreticulin (CALR) constitute the two most frequent mutations in essential thrombocythemia (ET), and both are reported to be mutually exclusive. Hence, we examined a cohort of 123 myeloproliferative neoplasm (MPN) patients without BCR-ABL1 rearrangement and additional ET patients (n=96) for coexistence of JAK2 and CALR mutations. The frequency of CALR mutations was 20.3% in 123 MPN patients; 31.1% in ET (n=74), 25% in primary myelofibrosis (n=4) and 2.2% in polycythemia vera (n=45). JAK2 and CALR mutations coexisted in 7 (4.2%) of 167 ET patients. Clinical characteristics, progression-free survival (PFS), and elapsed time to achieve partial remission across 4 groups (JAK2+/CALR+, JAK2+/CALR-, JAK2-/CALR+, JAK2-/CALR-) were reviewed. The JAK2+/CALR- group had higher leukocyte counts and hemoglobin levels and more frequent thrombotic events than JAK2-/CALR- group. JAK2 mutations have a greater effect on the disease phenotype and the clinical features of MPN patients rather than do CALR mutation. JAK2+ groups showed a tendency of poor PFS than JAK2- groups regardless of CALR mutation. CALR+ was a predictor of late response to the treatment. Our study also showed that thrombosis was more frequent in ET patients with type 2 CALR mutations than in those with type 1 CALR mutations.
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