We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Novel t(1;9)(p36;p24.1) JAK2 Translocation and Review of the Literature.
- Authors
Levavi, Hannah; Tripodi, Joseph; Marcellino, Bridget; Mascarenhas, John; Jones, Amy V.; Cross, Nicholas C.P.; Gruenstein, Diana; Najfeld, Vesna
- Abstract
The JAK2V617F point mutation has been implicated in the pathogenesis of the vast majority of myeloproliferative neoplasms (MPNs), but translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negativeMPNs. Here, we present a case of a patient diagnosed with JAK2V617F-negativepolycythemia vera (PV) that transformed to the MPN-blast phase. Cytogenetic and FISH analysis revealed a novel translocation of t(1;9)(p36;p24.1), causing a PEX14-JAK2 gene fusion product. The t(1;9)(p36;p24.1) represents a new addition to the list of known translocations involving JAK2that have been identified in hematologic malignancies. Although the prognostic and treatment implications of JAK2 translocations in MPNs have not been elucidated, positive outcomes have been described in case reports describing the use of JAK inhibitors in these patients. Further research into the role of JAK2 translocations in the pathogenesis and outcomes of hematologic malignancies is warranted.
- Subjects
CHROMOSOMAL translocation; JANUS kinases; GENETIC mutation; HEMATOLOGIC malignancies
- Publication
Acta Haematologica, 2019, Vol 142, Issue 2, p105
- ISSN
0001-5792
- Publication type
Article
- DOI
10.1159/000498945