Abstract:

Objective   To test the rearrangements of the ETV6 gene in adult patients with acute lymphoblastic leukemia (ALL) and analyze the clinical significance of the rearrangement. Methods   Bone marrow was obtained from 25 ALL patients for the test. Split-signal fluorescence in situ hybridization(Split-signal FISH)was used for testing ETV6 rearrangements. Nested Reverse transcription polymerase chain reaction(Nested RTPCR)was used for confirmation if  fusion was found through Split-signal FISH. Results   The ETV6 gene was observed as broken and rearranged in one male patient who showed as a normal karyotype by conventional cytogenetic analysis. The arrangement was subsequently confirmed as expression of the ETV6-RUNX1 fusion gene identified by RT-PCR. The patient was a refractory and relapsed acute lymphocytic leukemia patient and resistant to re-induction therapy. Conclusion   FISH is more sensitive than the conventional cytogenetic analysis to detect the ETV6 gene rearrangement. Our study indicates that the ETV6RUNX1 fusion gene, which is caused by ETV6 rearrangement, may be an indication of a poor outcome in adult patients with ALL.

Key words: Gene, ETV6; Leukemia,Lymphoid; Adult; Fluorescence in situ hybridization