CALR mutations screening in wild type JAK2(V617F) and MPLW515K/L Brazilian myeloproliferative neoplasm patients

Author(s)

Teixeira Nunes, Daniela Prudente ^[1] ; de Lima, Luciene Terezina ^[1] ; Chauffaille, Maria de Lourdes ^[2] ; Mitne-Neto, Miguel ^[3] ; dos Santos, Marcos Tadeu ^[3] ; Cliquet, Marcelo Gil ^[4] ; Guerra-Shinohara, Elvira Maria ^[1]

Affiliation

^[1] Univ Sao Paulo, Fac Cienias Farmaceut, Dept Anal Clin & Toxicol, BR-05508000 Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo, Dept Hematol & Hemoterapia, Sao Paulo - Brazil

^[3] Grp Fleury Pesquisa & Desenvolvimento, Sao Paulo - Brazil

^[4] Univ Catolica Sao Paulo, Complex Hosp Sorocaba, Dept Hematol, Sao Paulo - Brazil

• Document type: Journal article
• Source: BLOOD CELLS MOLECULES AND DISEASES; v. 55, n. 3, p. 236-240, OCT 2015.
• Web of Science Citations: 8

Abstract

Some myeloproliferative neoplasm (MPN) patients harbor JAK2(V617F) mutation, and CALR mutations were recently discovered in wild type (WT) JAK2(V617F). We evaluated the frequency and type of CALR mutations, and clinical and hematological characteristics in WT JAK2(V617F) and MPLW515K/L MPN patients. Sixty-five patients were included: 21 with primary myelofibrosis (PMF), 21 with myelofibrosis post-essential thrombocythemia (MPET) and 23 with essential thrombocythemia (ET). Screening for JAK2(V617F) and MPLW515K/L were performed using real-time PCR, while CALR mutations were analyzed by fragment analysis and Sanger sequencing. JAK2(V617F) was the most frequent mutation (54.5%) and one patient (1.5%) harbored MPLW515L. CALR mutations were present in 38.1% of PMF, 12.5% of ET and 33.3% of MPET patients. Five types of CALR mutations were detected, among which type I (32.1%) and type 2 (21.4%) were found to be the most common. A novel CALR mutation in a PMF patient was found. Patients carrying CALR mutations had higher platelet count and less presence of splenomegaly than JAK2(V617F), while triple negatives had higher C-reactive protein levels than CALR mutant carriers. Screening for CALR mutations and its correlation with clinical features could be useful for the characterization of MPN patients and result in its incorporation into a new prognostic score. (C) 2015 Elsevier Inc. All rights reserved. (AU)

• FAPESP's process: 12/12957-5 - Effect of Smads and microRNAs in TGF-B1 gene expression and its role in angiogenesis in patients with primary myelofibrosis and essential thrombocythemia
• Grantee: Elvira Maria Guerra Shinohara
• Support Opportunities: Regular Research Grants