[Deletions and rearrangements of PAX5 gene in B-lineage acute lymphoblastic leukemia].
OBJECTIVE
To determine the frequency paired-box domain 5 (PAX5) gene alterations in B-lineage acute lymphoblastic leukemia (B-ALL) harboring 9p abnormalities and its implication for clinical prognosis.


METHODS
Bacterial artificial chromosomes RP11-344B23 and RP11-652D9 encompassing the PAX5 gene were selected. DNA was extracted with conventional method and labeled with fluorescein by nicking transition. Fluorescence in situ hybridization (FISH) was used to determine the rearrangement or deletion of the PAX5 gene in B-ALL harboring chromosome 9p abnormalities. Clinical and laboratory features of patients were analyzed.


RESULTS
Fifty cases were analyzed with FISH. Complete deletion was observed in 23 patients (46%), partial deletion was observed in 2 patients (4%), and rearrangement was detected only in 1 case. The total frequency of abnormalities was 52% (26/50). No significant difference was found in clinical features of patients with or without PAX5 rearrangement or deletion.


CONCLUSIONS
The frequency of PAX5 gene alterations in B-ALL harboring 9p abnormalities was 52%. However, no significant difference was found between patients with and without PAX5 alterations.
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of the Ministry of Health, Suzhou, Jiangsu 215006, P. R. China. Email: chensuning@sina.com.
Ji-fu
JF
Zheng
Sha-sha
SS
Dong
Qian
Q
Wang
Jin-lan
JL
Pan
Su-ning
SN
Chen
Hui-ying
HY
Qiu
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015448:Leukemia, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D051757:PAX5 Transcription Factor / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human