Abstract
BCR-ABL1 negative myeloproliferative neoplasms (MPNs) are known to contain alterations of the tyrosine kinase JAK2 (located on 9p24) that result in constitutive activation of the encoded protein. JAK2 fusions are reported in acute and chronic leukemias of myeloid and lymphoid phenotypes. Here, we report an unclassified case of MPN (MPN-U) showing a t(9;22)(p24;q11), which generates a BCR-JAK2 fusion gene by fusing the BCR at intron 13 to JAK2 at intron 17 on the derivative chromosome 22. Most reported JAK2 fusions cases reveal an aggressive clinical course and long-term remissions have only been achieved after allogeneic stem cell transplantation (ASCT). To the best of our knowledge, this is the thirteenth case reported worldwide to describe a BCR-JAK2 fusion transcript in MPN-U. The present report revealed a sustained complete clinical, hematologic, and cytogenetic remission 35 months after diagnosis and ~24 months after ASCT. Regarding BCR-ABL1 negative MPN patients this case report provides strong support for a role of JAK2 activation in the oncogenesis and suggests a possible diagnostic and therapeutic target that should be investigated.
References
Apr 11, 2003·Molecular Biology of the Cell·Pipsa SaharinenOlli Silvennoinen
Apr 5, 2005·Cancer Research·Andreas ReiterNicholas C P Cross
Apr 30, 2005·Blood·David P SteensmaAyalew Tefferi
Jul 8, 2005·Genes, Chromosomes & Cancer·Frank GriesingerStefan K Bohlander
May 28, 2008·Cancer Genetics and Cytogenetics·Gabriella CirmenaMario Sessarego
Jun 10, 2008·British Journal of Haematology·Steven W LaneGlen A Kennedy
Jun 10, 2008·Human Pathology·Cristina A Smith, Guang Fan
Aug 7, 2008·Seminars in Cell & Developmental Biology·William VainchenkerStefan N Constantinescu
Jul 3, 2010·Leukemia Research·Carlos A TiradoPrasad Koduru
Jun 15, 2011·Leukemia & Lymphoma·Svetlana AngelovaVelizar Shivarov
Oct 25, 2011·Cancer Genetics·Luciana ImperaClelia Tiziana Storlazzi
Mar 3, 2012·PloS One·Álvaro Cuesta-DomínguezElena Fernández-Ruiz
May 3, 2012·Molecular Cytogenetics·Mohamed M ElnaggarAlexis Leal
Aug 18, 2012·Cancer Cell·Kathryn G RobertsCharles G Mullighan
Feb 26, 2013·Leukemia & Lymphoma·Yang XuAining Sun
Aug 2, 2013·Revista brasileira de hematologia e hemoterapia·Marcelo BellessoRenata Campos Elias
Jun 14, 2014·The Journal of Biological Chemistry·Wenjing TaoRalph B Arlinghaus
Sep 28, 2014·Annals of Hematology·Juliana SchwaabAndreas Reiter
Citations
May 3, 2016·Cancer Genetics·Rong HeDavid S Viswanatha
Mar 5, 2016·European Journal of Haematology·Nicolas DuployezCatherine Roche-Lestienne
Apr 13, 2020·American Journal of Hematology·Juliana SchwaabGeorgia Metzgeroth
Aug 28, 2021·Medicina·Giuseppe Lanzarone, Matteo Olivi