[A case of acute promyelocytic leukemia with variant t(5;17) and trisomy 22].
OBJECTIVE
To report a case of acute promyelocytic leukemia (APL) with variant t(5;17)(q35;q21) and to explore its laboratory and clinical features.


METHODS
Conventional cytogenetics (CC) was used for karyotyping. Fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) were also performed to identify the chromosomal aberrations.


RESULTS
The karyotype of the patient was 47, XY, t(5;17), +22. FISH analysis showed PML-RAR aleph negative but 77% cells had a rearrangement or duplication of the RAR aleph gene. BCR-ABL was negative but 74% cells had abnormality of chromosome 22. M-FISH confirmed the abnormalities are of chromosomes 5 and 17 rearrangement and trisomy 22.


CONCLUSIONS
Variant t(5;17) giving rise to the fusion gene of NPM-RAR aleph rarely occurs in APL patients. No Auer rods were identified by morphological study. It usually contains some extra chromosomal aberrations. It is sensitive to all-trans retinoic acid but has a high risk of relapse. If it goes with diffuse intravascular coagulation or high count of WBC, it usually indicates a poor prognosis.
Qiu
Hai-rong
HR
Department of Hematology, the First Affiliated Hospital, Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029 People's Republic of China.
Li
Jian-yong
JY
Miao
Kou-rong
KR
Wang
Rong
R
Zhang
Jian-fu
JF
Xu
Wei
W
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002895:Chromosomes, Human, Pair 5; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D055815:Young Adult
D015514:Oncogene Proteins, Fusion