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

Kantarcioglu B., Kaygusuz-Atagunduz I., UZAY A., TOPTAŞ T., Tuglular T. F., Bayik M.

International Journal of Hematology, vol.102, no.3, pp.383-387, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 102 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1007/s12185-015-1792-2
  • Journal Name: International Journal of Hematology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.383-387
  • Keywords: t(9;22), Myelodysplastic syndrome, BCR-JAK2, Fusion gene, JAK2 rearrangement
  • Istanbul Medipol University Affiliated: Yes

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.