[Clinical and experimental retrospective analysis on acute leukemia with trisomy 4 cell].
OBJECTIVE
To explore the clinical and experimental features of acute leukemia (AL) with trisomy 4.


METHODS
A retrospective analysis on the clinical and laboratory data of 21 cases of AL with trisomy 4 was performed. Chromosomes were prepared using direct method and/or short-term (24 h) cultures of bone marrow cells. Karyotypic analysis was carried out by using R-banding technique. Thirteen cases were studied by interphase fluorescence in situ hybridization (FISH) by using a chromosome 4-specific alpha -satellite DNA probe labeled by spectrum Green to ascertain the presence of a clone with trisomy 4. Five cases with t (8; 21) revealed by karyotypic analysis were detected by dual-color FISH using t (8; 21) translocation probe to confirm the AML1/ETO rearrangement.


RESULTS
All the patients with AL and trisomy 4 were with de novo AL except two cases with secondary AL. M2 was the most frequent Franch-American-British(FAB) subtype in this series (9/21 cases). The initial leukocyte count more than 10x 10(9)/L was seen in 16 cases. An enlargement of liver, spleen and/or lymph nodes in varying degrees was found in 15 cases. Among 15 cases received immunophenotypic analysis, 11 cases showed CD34 positivity and 6 cases co-expressed myeloid and lymphocyte antigens. Karyotypic analysis disclosed clonal trisomy 4 in 18 cases and one cell with +4 in 3 cases. Isolated trisomy 4 was found in 7 cases, while 14 cases had other abnormalities besides trisomy 4 among which t (8; 21) was found in 8 cases. Dual-color FISH confirmed that all 13 cases including 3 cases having one cell with +4 on karyotypic analysis had clonal trisomy 4. Dual-color FISH confirmed that all 5 cases with t (8; 21) had AML1/ETO rearrangement.


CONCLUSIONS
AL patients with trisomy 4 have unique clinical and experimental features and a poor prognosis.
Pan
Jin-lan
JL
The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou, Jiangsu, 215006 P. R. China.
Xue
Yong-quan
YQ
Qiu
Hui-ying
HY
Zhang
Jun
J
Wu
Ya-fang
YF
Wang
Yong
Y
Shen
Juan
J
Zhu
Yong-jin
YJ
D000208:Acute Disease; D000328:Adult; D000368:Aged; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult