[Simultaneous presence of ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia].
OBJECTIVE
To report a rare complex karyotypic abnormalities including ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia (APL).


METHODS
Chromosomes were prepared after 24 h culture of bone marrow cells. R-banding technique was used to analyze the karyotype. Multiplex fluorescence in situ hybridization (M-FISH), chromosome painting using whole chromosome parint (WCP) 2, 15, 17 and 20 and interphase-FISH (I-FISH) using PML-RARa dual-colour dual-fusion translocation probe were performed to ascertain the essence and origin of the abnormal chromosomes detected by conventional karyotypic analysis.


RESULTS
Karyotypic analysis revealed a karyotype of 47, XY, 2q-, + 8, 17q+ , 20p+ . M-FISH analysis showed a karyotype of 47, XY, t(2;17;20) (q24;q21;p13), + 8, which was confirmed by chromosome painting. PML-RARa fusion gene which lied in the derivative chromosome 15 was detected by I-FISH suggesting a cryptic insertion (15;17)(q22;q21.1q21.3).


CONCLUSIONS
FISH is a reliable method for characterization of cryptic ins (15;17) and other complex translocations. It should be used in all suspected APL patients lacking t(15;17) by conventional karyotypic analysis.
Bai
Shuxiao
S
The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou, Jiangsu 215006, P. R. China.
Xue
Yongquan
Y
Wu
Yafang
Y
Pan
Jinlan
J
Zhang
Jun
J
Shen
Juan
J
Wang
Yong
Y
Qiu
Huiying
H
D002877:Chromosomes, Human / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D013997:Time Factors; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*