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Performing simultaneous detection of BCR-ABL and JAK2V617F mutation represents an improvement for a more accurate and less time consuming Myeloproliferative Neoplasms diagnosis

Ilea Anca, Vladareanu Ana Maria
Abstract: This article presents observations made following a more comprehensive study which analyzed the results of molecular tests performed for the diagnosis of myeloproliferative neoplasms in a molecular biology laboratory over a period of seven years (January 2009- December 2015).The laboratory is an ELN (European Leukemia Net) certified diagnostic laboratory for quantification of BCR-ABL.Two diagnosis tests (for BCL-ABL transcript and Jak2 V617F point mutation) were performed on a number of 614 patients with various chronic myeloproliferative neplasms subtypes. 320 (52%) patients were found to be Jak2 V617F positive, 25 (4.07%) were found to be BCR-ABL positive. A “double negative” was found in 262 (42.67%) patients and 7 (1.17%) patients were positive for both Jak2V617F and BCR-ABL. The 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. Also, due to the particular situations , the simultaneous performance of both screening tests in the diagnosis of CMN is highly recommended.

Keywords: Myeloproliferative neoplasms, Bcr-abl transcript, Jak2V617F mutation


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