title: Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature.
abstract: The human JAK2 gene is mainly targeted by two types of genetic lesions that play roles in the pathogenesis of hematologic malignancies: intragenic mutations and chromosomal translocations. Chromosomal translocations of JAK2 are typically associated with myeloid or lymphoid malignancies with an aggressive course and poor outcome. Here we report a t(9;22)(p24;q11.2) translocation, in a MDS patient and review results associated with BCR-JAK2 fusion reported in the literature.
authors.affiliation: Division of Hematology, Department of Internal Medicine, Istanbul Medipol University, Istanbul, Turkey, bulentkantarcioglu@gmail.com.
authors.forename: Bulent
authors.initials: B
authors.lastname: Kantarcioglu
authors.forename: Isik
authors.initials: I
authors.lastname: Kaygusuz-Atagunduz
authors.forename: Ant
authors.initials: A
authors.lastname: Uzay
authors.forename: Tayfur
authors.initials: T
authors.lastname: Toptas
authors.forename: Tulin Firatli
authors.initials: TF
authors.lastname: Tuglular
authors.forename: Mahmut
authors.initials: M
authors.lastname: Bayik
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics* / Q000378:metabolism; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; C507924:JAK2 protein, human; D053614:Janus Kinase 2; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr
references.citation: Br J Haematol. 2008 Aug;142(4):503
references.pmid: 18537978
references.citation: Blood. 2012 Aug 16;120(7):1529-31
references.pmid: 22899477
references.citation: Leuk Lymphoma. 2011 Sep;52(9):1809-10
references.pmid: 21663511
references.citation: Rev Bras Hematol Hemoter. 2013;35(3):218-9
references.pmid: 23904814
references.citation: Leuk Lymphoma. 2008 Mar;49(3):388-97
references.pmid: 18297515
references.citation: Hum Pathol. 2008 Jun;39(6):795-810
references.pmid: 18538168
references.citation: J Clin Oncol. 2013 Jun 10;31(17):e269-71
references.pmid: 23630205
references.citation: Ann Hematol. 2015 Feb;94(2):233-8
references.pmid: 25260694
references.citation: Cancer Genet Cytogenet. 2008 Jun;183(2):105-8
references.pmid: 18503828
references.citation: Leuk Lymphoma. 2013 Oct;54(10):2322-4
references.pmid: 23432689
references.citation: Genes Chromosomes Cancer. 2005 Nov;44(3):329-33
references.pmid: 16001431
references.citation: Leuk Res. 2010 Dec;34(12):1674-6
references.pmid: 20594592
references.citation: Br J Haematol. 2014 Sep;166(6):809-17
references.pmid: 24913195
references.citation: Cancer Cell. 2012 Aug 14;22(2):153-66
references.pmid: 22897847
references.citation: Mol Cytogenet. 2012 May 01;5(1):23
references.pmid: 22549126
references.citation: Haematologica. 2013 Mar;98(3):404-8
references.pmid: 22875628
references.citation: Leukemia. 2008 Jul;22(7):1320-34
references.pmid: 18528425
references.citation: Cancer Genet. 2011 Sep;204(9):512-5
references.pmid: 22018274
references.citation: PLoS One. 2012;7(2):e32451
references.pmid: 22384256