Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature

Bulent Kantarcioglu; Isik Kaygusuz-Atagunduz; Ant Uzay; Tayfur Toptas; Tulin Firatli Tuglular; Mahmut Bayik

doi:10.1007/s12185-015-1792-2

Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature

Int J Hematol. 2015 Sep;102(3):383-7. doi: 10.1007/s12185-015-1792-2. Epub 2015 Apr 2.

Authors

Bulent Kantarcioglu¹, Isik Kaygusuz-Atagunduz, Ant Uzay, Tayfur Toptas, Tulin Firatli Tuglular, Mahmut Bayik

Affiliation

¹ Division of Hematology, Department of Internal Medicine, Istanbul Medipol University, Istanbul, Turkey, bulentkantarcioglu@gmail.com.

PMID: 25833723
DOI: 10.1007/s12185-015-1792-2

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.

Publication types

Case Reports
Review

MeSH terms

Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, Pair 22 / metabolism
Chromosomes, Human, Pair 9 / genetics*
Chromosomes, Human, Pair 9 / metabolism
Female
Humans
Janus Kinase 2 / genetics*
Janus Kinase 2 / metabolism
Middle Aged
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / metabolism
Oncogene Proteins, Fusion / genetics*
Oncogene Proteins, Fusion / metabolism
Proto-Oncogene Proteins c-bcr / genetics*
Proto-Oncogene Proteins c-bcr / metabolism
Translocation, Genetic*

Substances

Oncogene Proteins, Fusion
JAK2 protein, human
Janus Kinase 2
BCR protein, human
Proto-Oncogene Proteins c-bcr