High platelet count and high probability of CALR detection in myeloproliferative neoplasms. (January 2017)

• Record Type: Journal Article
• Authors: Shirzad, Reza; Tahan-nejad, Zari; Mohamadi-asl, Javad; Seghatoleslami, Mohammad; Ahmadzadeh, Ahmad; Malehi, Amal; Saki, Najmaldin
• Is Part Of: Comparative clinical pathology. Volume 26:Number 1(2017)
• Page Start: 25
• Page End: 33
• Publication Date: 2017-01
• Subjects: Calreticulin -- JAK2v617f -- BCR-ABL1 -- MPL -- Myeloproliferative neoplasms; Diagnosis, Laboratory -- Periodicals; Pathology, Comparative -- Periodicals; 616.07
• DOI: 10.1007/s00580-016-2343-9
• Languages: English
• ISSNs: 1618-5641

Abstract

Abstract Calreticulin (CALR) has been recently detected in BCR-ABL1 and JAK2V617F negative myeloproliferative neoplasms (MPNs). In this study, we used PCR-PAGE and DNA sequencing methods for detection of CALR mutations and analysis of laboratory findings in MPN patients. BCR-ABL1, JAK2V617F, andMPL515 were assessed using RT-PCR and ARMS-PCR methods in 103 suspected MPN patients. CALR was assessed in patients negative for BCR-ABL1 and JAK2V617F patients as well as six cell lines (Jurkat, U937, NB4, KCL22, THP1, and K562) using PCR-PAGE and DNA sequencing. Finally, laboratory data of patients were obtained. BCR-ABL1 and JAK2V617F were detected in 39 (37.86 %) and 34 (33 %) MPN patients, respectively. Two patients had combined BCR-ABL1/JAK2V617F mutation. MPL 515 was negative in all the patients. CALR mutation was found in six male JAK2V617F -negative MPN patients (28.6 %, p = 0.07). Platelet count was 1049.5 × 109 /L (p = 0.01) in these patients. All patients with type 1 and 2 CALR mutations had platelet counts lower and higher than 1000 × 109 /L, respectively. CALR-positive patients had lower WBC count versus JAK2V617F -positive patients. Finally, CALR mutations were negative in all the cell lines. PCR-PAGE detected mutations in a shorter time with lower cost. JAK2V617F may be detected in BCR-ABL1-positive patients and is not specific for these patients. CALR is useful for molecular diagnosis of JAK2V617F - and MPL-negative MPN patients. PCR-PAGE may be a rapid, cost-effective, and simple method, especially in developing countries. CALR mutations are detected in male patients, suggesting different incidences of CALR mutations in male/female populations in different nations and races.