News in cytogenetic and molecular diagnosis TEL-JAK ….pdfVIP

Mædica - a Journal of Clinical Medicine EEDITORIALSDITORIALS EDITORIALS EEDITORIALSDITORIALS News in cytogenetic and molecular diagnosis TEL-JAK-2 fusion as a model for hybrid oncogenes a b Anca Roxana LUPU , MD, PhD, Mihaela CLOSCA GHEORGHIU , MD, a b c Oana CIOCAN , MD, Anca CIOBANU , MD, Aurora ARGHIR , MD, Agripina LUNGEANUc, MD a“Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania bAcademy of Medical Sciences, Bucharest, Romania aCytogenic Laboratory, “Victor Babes” Institute, Bucharest, Romania ABSTRACT Chronic myeloproliterative disorders represent a heterogeneous group of hematological neoplasias with origin at multi-potent stem cell level, of which the molecular pathogenesis, with the exception of chronic myeloid leukemia, was less understood until now. By identifying chromosomal reorganizations that generate gene fusion, which code tyrosin kinases, the cytogenesis and molecular studies made progresses in decoding the pathogenic mechanisms of negative-BCR/ABL chronic myeloproliferative disorders. The recent identification of a punctual mutation that determines a constitutive activation of Jak2 kinases, also with activation of ulterior signaling pathways, starts to be considered the key genetic event in the majority of patients with chronic malignant myeloproliferative syndromes. In this context JAK2 becomes a promising candidate-gene for decoding the pathogenesis of maladies such as Polycythemia Vera (PV), Essential