[Analysis and clinical significance of ETV6 rearrangement in myelodysplastic syndromes patients].
OBJECTIVE
To identify the ETV6 gene rearrangement in patients with myelodysplastic syndromes (MDS) and explore its relationship with prognosis and disease stages.


METHODS
ETV6 rearrangement in 58 MDS cases were detected by conventional cytogenetics and Split-signal FISH. RT-PCR was used to detect 9p24-12p13 balance translocation with special designed primers ETV6F1/F2 and JAK2R1/R2. The relationship between ETV6 rearrangement and prognosis and disease staging in MDS patients was analyzed.


RESULTS
ETV6 rearrangement were found in 4 (6.9%) of 58 cases, among which ETV6/JAK2 fusion was identified by RT-PCR in 1 (1.7%) case. The mean follow-up duration was 12 months. All 4 patients (100%) with rearrangement transformed into acute leukemia, with a median survival time (MS) of 7 months; while 10 patients (17%) in the non-translocation group transformed to acute leukemia, with a MS of 28 months. In addition, all 4 patients (100%) with rearrangement were in advanced stage of MDS( RAEB), while 17 cases (31.5%) in non-rearrangement group were in that stage.


CONCLUSIONS
ETV6 rearrangement has higher expression rate (6.9%), and is closely associated with disease stage and prognosis in MDS.
Ding
Bu-tong
BT
Jinan Central Hospital, Jinan 250013, China.
Guo
Nong-jian
NJ
Sun
Jian-zhi
JZ
Gao
Hong-mei
HM
Wang
Yun-shan
YS
Chen
Yun
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D009367:Neoplasm Staging; D011379:Prognosis; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein