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Objective To evaluate the expression of miR-196b in newly diagnosed pediatric acute myeloid leukemia (AML) and its clinical signiifcance. Methods Fifty-two AML children were enrolled in this study and 30 non-leukemia com-pared children were selected as controls. The expressions of miR-196b were detected in bone marrow samples by real-time quan-titative PCR (q-RT-PCR) and the results were expressed in 2-??Ct. Results miR-196b expressions were signiifcantly higher in M4-5 and lower in non-M4-5 of AML children than those in control (P<0.01), with a lowest level in t (15;17) and a highest level in MLL subtypes (P<0.01). The miR-196b expressions were signiifcantly different among different prognosis groups (P<0.01) and the level in the favorable prognostic group was lower than in poor prognosis group. It was also found that miR-196b expres-sion was lower in remission group than that in no-remission group after the ifrst induction remission therapy (P<0.05). Mean-while, the expression of miR-196b in the children with WBC≥100×109/L were statistically higher than that in the children with WBC<100×109/L (P<0.01), and miR-196b level was positively correlated with the platelet counts (r=0.302, P=0.030). Conclu-sions miR-196b expression is increased in poor prognosis group of AML children, and high expression of miR-196b is related with low response rate and poor prognosis. miR-1966 is expected to become a new target for the treatment of AML.
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Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2％) cases were detected to have chromosomal abnormalities,including karyotype first reported domestically and internationally in 3 cases.2.Trisomy-21 (Down's syndrome),which was the most common abnormal karyotype,was seen in 130 cases,accounting for 81.8％,of whom 119 cases show the standard type,10 cases accompanied by the Robertsonian translocation involving group D or group G,and 1 case accompanied by sexual chromosomal abnormality:inv(Y) (p1 1 q 1 1),+ 21.3.Other common karyotype abnormalities were as follows:del (5) (p 1 2-14) (cats cry syndrome) in 4 cases,trisomy-18 (Edwards syndrome)in 4 cases,45,XO (Turner' s syndrome) in 4 cases,inv (9) (p1 1 q1 2-21) in 4 cases,trisomy-X (super female syndrome) in 1 case,rob(13;14) in 1 case,trisomy-8 in 1 case and del(18) (q22) in 1 case.4.Special faces were seen in 147 cases (92.5 ％),congenital heart disease in 97 cases (61.0％),low birth weight in 72 cases (45.3 ％),congenital anal atresia in 13 cases(8.1％),multiple malformations in 11 cases (6.8％),intestinal malformations in 10 cases (6.2％),extrinsic genital abnormalities in 9 cases(5.7％),meow-like cry in 4 cases(2.5％),limb edema in 4 cases (2.5％),fingers and toe abnormalities in 6 cases(3.6％),congenital brain dysplasia in 6 cases (3.6％),webbed neck in 5 cases(3.1％) and cleft lip and palate in 3 cases(1.8％).Conclusions Chromosomal abnormality is an important factor leading to neonatal birth defects,of which special face,congenital heart disease,low birth weight,and multiple malformations are the main clinical manifestations of chromosomal diseases.
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Objective To report two childhood acute myeloid leukemia (AML) patients with t(8;20)(q22;q13) and t(1;8;21)(q32;q22;q22) respectively,as variant t(8；21).Methods Chromosome preparation of bone marrow cells were made using short-term culture and karyotypic analysis was carried out using R and G-banding techniques.Interphase-fluorescence in situ hybridization (I-FISH) and metaphase-FISH (M-FISH) were performed using dual color,dual fusion AML1-ETO probe to detect the AML1-ETO fusion gene.Multiplex RT-PCR was used to demonstrate the expression of AML1-ETO fusion transcript.Results The karyotype of bone marrow cells for these two childhood AML patients were 45,X,-Y,t(8;20)(q22;q13)[12]/46,XY[3](case 1) and 46,XX,t(1;8;21)(q32；q22;q22)[18]/46,XX[2](case 2),respectively.I-FISH and M-FISH confirmed that they all had the AML1-ETO fusion gene and variant t(8;21).The AML1-ETO fusion transcript in both patients was detected by RT-PCR.Conclusion t (8;20)(q22;q13) and t (1;8;21)(q32;q22;q22) are variant t (8;21) in nature.It is important to combine the conventional karyotypic analysis with D-FISH and multiplex RT-PCR to determine the nature and prognosis of AML patients with variant t(8;21).