CALR mutation screening in pediatric primary myelofibrosis. Issue 12 (30th August 2014)

• Record Type: Journal Article
• Authors: An, Wenbin; Wan, Yang; Guo, Ye; Chen, Xiaojuan; Ren, Yuanyuan; Zhang, Jingliao; Chang, Lixian; Wei, Wei; Zhang, Peihong; Zhu, Xiaofan
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 12(2014:Dec.)
• Page Start: 2256
• Page End: 2262
• Publication Date: 2014-08-30
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25211
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc25211-sec-0001" sec-type="section"> <title>Background</title> <p>Primary myelofibrosis (PMF) is quite rare in children. Mutations of <italic>JAK2</italic><sup><italic>V617F</italic></sup> or <italic>MPL</italic><sup><italic>W515K/L</italic></sup> were absent in pediatric patients with PMF according to previous studies. Recently, mutations in calreticulin (<italic>CALR</italic>) were described in adult patients with <italic>JAK2</italic>/<italic>MPL</italic>‐unmutated PMF. Our study aimed to analyze the clinical and genetic features of Chinese pediatric patients with PMF.</p> </sec> <sec id="pbc25211-sec-0002" sec-type="section"> <title>Procedures</title> <p>We retrospectively investigated 14 pediatric patients diagnosed as PMF according to WHO 2008 criteria. Direct sequencing was performed for the existence of genetic alterations in <italic>JAK2, MPL, TET2, CBL, ASXL1, IDH1, IDH2, SRSF2, EZH2, DNMT3A</italic> and <italic>CALR</italic>.</p> </sec> <sec id="pbc25211-sec-0003" sec-type="section"> <title>Results</title> <p>In our cohort, all patients had anemia, three patients (21%) had splenomegaly, six patients (43%) had micromegakaryocytes at time of diagnosis. No patient had spontaneous remission and six patients (43%) transformed to acute myelocytic leukemia. In nine patients with evaluable cytogenetic information, three subjects (33%) had abnormal karyotypes. The median survival from time of diagnosis was 28 months. Seven patients (50%) had type 2 mutations of <italic>CALR</italic>. No patient had mutations in the other candidate genes. There was no statistical differences in age, gender, hemoglobin, WBC, neutrophil and platelet counts, percentage of circulating blast, overall survival and leukemia transformation between patients with and without <italic>CALR</italic> mutation.</p> </sec> <sec id="pbc25211-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our study documented that Chinese pediatric patients with PMF in our cohort had its own clinical characteristics and poor outcome. <italic>CALR</italic> mutations were detected in 50% of our pediatric patients with PMF. Based on our study, <italic>CALR</italic> mutations screening could be used as molecular marker for diagnosis of pediatric patients with PMF. Pediatr Blood Cancer 2014;61:2256–2262. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>