Detection of 3q26.2/EVI1 rearrangements in myeloid malignancies by Fluorescence in situ hybridisation (FISH) (CAT#: STEM-MB-1215-WXH)

Introduction

Chromosome rearrangements involving the long arm of chromosome 3 at band 3q26.2 have been well documented in acute myeloid leukaemia (AML), chronic myeloid leukaemia (CML) and the myelodysplastic syndromes (MDS). Studies have implicated the aberrant expression of the human ecotropic virus integration site-1 (EVI1) gene, located on 3q26.2, as having a potential role in the development and progression of myeloid disorders. The EVI1 gene encodes a zinc finger protein localised in the nucleus and is not normally expressed in haematopoietic cells. In leukaemogenesis, the exact role that EVI1 plays is not known; however, inappropriate EVI1 expression in haematopoietic cells upregulates cell proliferation, impairs cell differentiation and induces cell transformation.
Clinically, 3q26.2/EVI1 rearrangements correlate with elevated platelet counts, marked hyperplasia with dysplasia of megakaryocytes, an aggressive clinical course and an unfavourable prognosis with conventional therapy.