The Importance of JAK2V617F and BCR-ABL Testing in the Diagnosis of Chronic Myeloproliferative Neoplasms: a Single Centre Experience

Abstract

This article reports the molecular diagnosis findings regarding chronic myeloproliferative neoplasms made in a Molecular Biology Laboratory over a seven years’ experience (between 2009 and 2015). Ritus Biotec ltd is an ELN (European Leukemia Net) certified diagnostic laboratory for quantification of BCR-ABL. 1373 patients were subjected to Jak2 V617F testing in this time frame. The patients were presumed with BCR-ABL negative chronic myeloproliferative neoplasms. 674 patients (50,29%) were found to be Jak2 V617F positive. 1141 BCR ABL tests were also performed for suspected CML patients, 482 (42%) of which were positive. Both diagnosis tests (for BCL-ABL transcript and Jak2 V617F point mutation) were performed on a number of only 614 patients with various chronic myeloproliferative disorder subtypes. These results are consistent with other similar works from the scientific literature and demonstrate the importance of molecular testing for an accurate diagnosis and a correct assessment of the clonal character of proliferations.