Clinical features and prognosis of acute monocytic leukemia with abnormality of chromosome 8 / 中国实用内科杂志

OBJECTIVE: To investigate the clinical characteristics and prognosis of patients with acute monocytic leukemia(AML-M5)with abnormality of chromosome 8.METHODS: The clinical features of 143 patients with AML-M5 were analyzed retrospectively,and the prognosis factors were analyzed.RESULTS: Out of 143 AML-M5 newly diagnosed patients,37 cases with chromosome 8 aberrations including t(8;21)accounting for 6.99%(10/143),trisomy 8 16.08%(23/143),and other 8 aberrations 2.80%(4/143);73 cases had normal karyotype,and 33 cases possessed non chromosome 8 abnormality.Statistically significant differences did not exist among age,sex,hemogram and bone marrow blasts(P>0.05).However,with chromosome 8 abnormality were predisposed to lower initial white blood cell count(P<0.05).Among 131 patients of receiving chemotherapy,the remission rate after the first course of inducible chemotherapy was 63.36%(83/131)and the one-year survival rate was 61.1%.Analysis of prognostic factors showed that age,the remission after the first induction of chemotherapy(complete remission or no remission),trisomy 8 chromosomal karyotype and treatment regimen(chemotherapy alone or plus hematopoietic stem cell transplantation) had effects on overall survival(P<0.05).Multivariate analysis revealed two independent risk factors:age≥60 years(P<0.05,HR=2.134,95% CI 1.204～3.784)and the complete remission after the first induction of chemotherapy(P<0.05,HR=0.408,95% CI 0.227～0.733).CONCLUSION: Chromosome 8 is easily involved in AML-M5.The patients with involvement of this aberration have lower initial white blood cell count and a poor prognosis.Patients after complete remission have hematopoietic stem cell transplantation is beneficial to prolong survival.

Efficacy and safety of the HAA regimen as induction chemotherapy in 236 de novo acute myeloid leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of the HAA regimen (homoharringtonine, cytarabine and aclarubicin) as induction chemotherapy in de novo acute myeloid leukemia (AML).</p><p><b>METHODS</b>The efficacy and safety of 236 de novo AML patients who received the HAA regimen as induction chemotherapy were retrospectively analyzed. The complete remission (CR) rate was assayed. Kaplan-Meier method was used to estimate overall survival (OS) and relapse free survival (RFS), and the differences were compared by Log-rank test.</p><p><b>RESULTS</b>The overall CR rate was 78.0%, and 65.7% of the patients attained CR in the first induction cycle. The early death rate was 4.7%. The median followup time was 41(1-161) months. The estimated 5-year OS and 5-year RFS rates were 44.9% and 45.5%, respectively. The CR rates of patients with favorable, intermediate and unfavorable cytogenetics were 92.9%,78.6%and 41.7%, respectively. The 5-year OS of favorable and intermediate group were 61.1% and 45.1%, respectively. The 5- year RFS of favorable and intermediate group were 49.0% and 45.4%, respectively. The median survival time of unfavorable group was only 5 months. The side effects associated with the HAA regimen were tolerable, in which the most common toxicities were myelosuppression and infection.</p><p><b>CONCLUSION</b>The HAA regimen is associated with a higher rate of CR and longer survival time and its toxicity could be tolerated.</p>

Expression of BCL2L12 gene in de novo acute myeloid leukemia and its clinical implications / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the expression of BCL2L12 gene and its clinical significance for de novo acute myeloid leukemia (AML).</p><p><b>METHODS</b>Real-time quantitative PCR (RQ-PCR) was employed to measure the expression of BCL2L12 gene in 134 patients with de novo AML. The results were correlated with clinical features of patients.</p><p><b>RESULTS</b>BCL2L12 gene transcript was determined for 134 AML patients and 49 healthy controls, with the median levels measured 0.1029 (0.0119-26.4090) and 0.2677 (0.0173-1.2858), respectively. There was a significant difference in the strength of BCL2L12 gene expression between patients and normal controls (P < 0.01). Those with lower BCL2L12 expression levels had a higher FLT3-ITD mutation rate compared with those with higher levels (27% vs. 5%, P = 0.036). Relapsed or refractory AML patients had lower expression compared with newly diagnosed patients (0.0873 vs. 0.1359, P = 0.014). There was no difference in overall survival (OS) between patients with higher and lower expression levels. However, for AML patients with a normal karyotype, the OS for those with lower expression was significant shorter (P = 0.037).</p><p><b>CONCLUSION</b>De novo AML patients have a lower level of BCL2L12 gene expression. AML patients with lower BCL2L12 expression have a higher FLT3-ITD mutation rate, and most of them are relapse or refractory patients. In addition, among patients with a normal karyotype, those with a lower BCL2L12 expression have a shorter OS. Therefore, expression of the BCL2L12 gene may be used as a prognostic marker for AML patients with a normal karyotype.</p>

Karyotypic analysis and prognosis for 41 patients with chronic myelomonocytic leukemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze cytogenetic features of chronic myelomonocytic leukemia (CMML) patients and explore the relationship between cytogenetic characteristics and prognosis.</p><p><b>METHODS</b>Clinical and laboratory data of 41 CMML patients were analyzed.</p><p><b>RESULTS</b>The majority of CMML patients were middle-aged males. According to WHO classification, 17 (41.5%) patients were diagnosed as CMML-Ⅰ and 24 (58.5%) were diagnosed as CMML-Ⅱ. 14 (34%) of CMML patients harbored abnormal karyotypes and +8 was the most common. CMML-Ⅰpatients with abnormal karyotypes were older than those with normal karyotypes. CMML-Ⅱ patients with normal karyotypes had higher lymphocyte counts than those with abnormal karyotypes. Of 29 patients who had follow-up data, 26 died, with the median survival time being 4 (1-13) months. The median survival of patients with normal and abnormal karyotypes were 4.5 and 3.8 months, respectively (P=0.408). The median survival of CMML-Ⅰ patients with abnormal karyotypes was shorter than those with normal karyotypes (3 and 17 months, P=0.015), but no significant difference was found between the median survival of the two groups of CMML-Ⅱ patients (2.9 and 5.8 months, P=0.629).</p><p><b>CONCLUSION</b>+8 has been the most common abnormal karyotype in CMML patients. The abnormal karyotype can be regarded as an indicator of poor prognosis for CMML-Ⅰ patients. Regardless of their karyotypes, CMML-Ⅱ patients have even poorer prognosis.</p>

Expression level of CDX2 gene in acute myeloid leukemia and its clinical significance / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the expression and clinical significance of Caudal-type homeobox transcription factor 2 (CDX2) gene in acute myeloid leukemia (AML) patients.</p><p><b>METHOD</b>Real time quantitative PCR (RQ-PCR) was used to test the expression level of CDX2 gene in 108 de novo AML patients and the clinical features of these patients were analyzed.</p><p><b>RESULTS</b>CDX2 gene transcript levels were detectable in bone marrow mononuclear cells from 108 AML patients and 7 healthy donors, the median expression level were 1179.44 (range 14.15 - 867 961.10) and 105.30 (range 22.30 - 453.11). There was a statistically significant difference in expression level of CDX2 gene between the AML patients and normal donor (P < 0.01). All 14 patients with FLT3-ITD(+) were in CDX2 gene higher expression group (P = 0.018), including 10 patients with normal karyotype. In the 83 treated AML patients (P = 0.046) and 57 higher WBC count (≥ 10×10(9)/L, P = 0.048) patients, the higher expression level of CDX2 gene was associated with lower complete remission (CR) rates.</p><p><b>CONCLUSIONS</b>Higher expression level of CDX2 gene was seen mostly in AML patients with FLT3-ITD mutation and with lower CR rates. CDX2 gene might be a prognostic molecular marker in AML patients with normal karyotype.</p>

Clinical analysis on 15 acute myeloid leukemia patients with 11p15 abnormalities / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the cytogenetic and clinical features of acute myeloid leukemia (AML) with 11p15 abnormalities and explore its influence on prognosis.</p><p><b>METHOD</b>The clinical and laboratory data of AML patients with 11p15 abnormalities from the First Affiliated Hospital of Zhejiang University from 1994 to 2010 were collected and their prognosis was analyzed.</p><p><b>RESULTS</b>15 (0.87%) out of 1725 de novo AML had abnormalities of 11p15, of which 6 cases involved t(7; 11), 2 had t(1; 11) and 2 had t(11; 12). And others manifested t(2; 11), t(11; 11), t(11; 14), del (11) or inv (11) respectively. The FAB type of 15 cases with 11p15 abnormalities were M2 (10 cases), M5 (3 cases), M1 (1 case) and M4 (1 case). ALL 6 cases with t(7; 11) were M2, 5 of them showed of Auer rods in myeloid blasts. 12 of 15 patients had received chemotherapy, and 7 patients obtained complete remission (CR), the median duration of CR was only 8 months (4-12 months); Of the 15 patients, 13 died, and the median overall survival (MS) was 11 months (2-19 months).</p><p><b>CONCLUSIONS</b>11p15 abnormalities is a rare recurring chromosomal aberration in AML of which the of with the most commonly seen is t(7; 11), which has its unique clinical and laboratory characteristics. AML patients with 11p15 abnormalities had a poor prognosis.</p>

Characteristics and outcome of chromosomal abnormalities in Ph negative cells of chronic myelogenous leukemia patients treated with tyrosine kinase inhibitors / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate cytogenetic features and outcome of chromosomal abnormalities in Philadelphia negative cells (Ph(-)CAs) of chronic myelogenous leukemia (CML) patients treated with tyrosine kinase inhibitors.</p><p><b>METHODS</b>Clinical and laboratory data of 15 CML patients in which Ph(-)CAs occurred after tyrosine kinase inhibitors therapy were collected and analyzed.</p><p><b>RESULTS</b>Of 15 cases with Ph(-)CAs, 12 patients were treated with imatinib, 2 were treated with dasatinib and 1 was treated with bosutinib. + 8 was the most common abnormality in Ph(-)CAs, which accounted for 46.7% of all. Ph(-)CAs usually occurred when Ph(+)cells decreased or disappeared due to tyrosine kinase inhibitors therapy. The average time for the appearance of Ph(-)CAs was 11.1 months (1-28 months). In 7 patients, the Ph(-)CAs have disappeared in 10.9 months (3-24 months). In such patients, no myelodysplastic syndrome or acute leukemia was observed. One patient has progressed to acute monocytic leukemia with Ph(+)cells. All remaining patients have achieved bone morrow remission, among which 11 patients achieved complete cytogenic response and 4 patients even achieved complete molecular response.</p><p><b>CONCLUSION</b>The majority of Ph(-)CAs developed in CML patients are transient in nature. They may develop following imatinib, dasatinib or bosutinib therapy but do not interfere with the therapeutic effects of tyrosine kinase inhibitors.</p>

Expression and clinical significance of ID1 gene in acute myeloid leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the expression and clinical significance of ID1 gene in acute myeloid leukemia (AML) patients.</p><p><b>METHOD</b>Real-time quantitative PCR (RQ-PCR) was used to test the expression level of ID1 gene in 114 de novo adult AML patients, and the clinical features of these patients were analyzed.</p><p><b>RESULTS</b>ID1 gene transcript levels were detectable in BM mononuclear cells from 114 patients with AML, the median expression level of all samples was 8525 (range: 57 - 11 233 238). There was a statistically significant difference on expression level of ID1 gene among the three different cytogenetic prognosis groups, and the poor prognosis group (median: 36 840, range: 336 - 11 233 238) harbored the significantly higher level of ID1 gene than the intermediate prognosis group (Median: 6630, range: 66 - 1 840 798) (P = 0.006). The expression level of ID1 gene was positively associated with older age (age ≥ 60 years vs < 60 years, P = 0.002) and higher WBC count (WBC ≥ 10×10(9)/L vs < 10×10(9)/L, P = 0.005). Young patients (age < 60 years) who were not obtained the complete remission (non-CR) after the first cycle of chemotherapy harbored the high level of ID1 gene (Median: 9537 of non-CR vs 1268 of CR, P = 0.010).</p><p><b>CONCLUSIONS</b>High expression level of ID1 gene was mostly seen in AML patients with adverse cytogenetics and older age (age ≥ 60 years), and may be associated with poor prognosis of AML. ID1 gene might be a prognostic molecular marker of AML.</p>

Clinical study of Philadelphia chromosome-positive adult acute lymphoblastic leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics, risk factors and therapeutic outcome of Philadelphia chromosome-positive adult acute lymphoblastic leukemia (Ph(+)aALL).</p><p><b>METHODS</b>The clinical data of 117 newly diagnosed adults with Ph(+)ALL in our hospital between January 1995 and December 2009 were retrospectively analyzed. And their prognoses were followed up.</p><p><b>RESULTS</b>There were 117(16.1%) of 727 aALL patients diagnosed as Ph(+)aALL. Among the 117 cases, 64.1% patients were classified as pre-B immunophenotype and 31.3% as common B immunophenotype, 37.5% patients with co-expression of myeloid antigens (CD13 or CD33), and 98.4% patients with positive CD34. The complete remission (CR) rate after 1 or 2 cycles of induction chemotherapy was 62.2% in Ph(+)aALL group versus 82% in Ph(-)aALL group (P = 0.000). The median disease-free survival time of Ph(+) group was 6 months and the median survival time was 9 months. Sole karyotype abnormality subgroup t(9;22) accounted for 53% of all Ph(+)aALL patients and additional karyotype abnormality subgroup, t(9;22) plus other chromosome variation, accounted for 47%. Patients in sole karyotype abnormality subgroup had slightly lower CR rate (59.6% vs 62.5%, P = 0.768), longer median survival time (7 months vs 4 months, P = 0.158), and higher 3-year overall survival rate (27.3% vs 14.4%, P = 0.271). For the myeloid antigen co-expressed patients and the only lymphocytic antigen expressed ones, CR rate was 56.0% and 61.5% (P = 0.750), the median survival time was 5 months and 4 months (P = 0.182), and the 3-year overall survival rate was 16.0% and 15.0% (P = 0.354), respectively. In the imatinib plus combination chemotherapy treatment group, 81.3% patients achieved CR, compared with that of 58.3% in patients treated with only traditional combination chemotherapy (P = 0.083). The median survival time was 9.5 months and 6 months (P = 0.003) in these two subgroup, and 3-year overall survival rate was 52.2% and 10.3% (P = 0.029), respectively. For the patients receiving allo-HSCT after CR and that receiving traditional consolidation chemotherapy, the median survival time was 15 months and 6 months (P = 0.000), and the 3-year overall survival rate was 62.0% and 10.3% (P = 0.000), respectively. For the patients receiving imatinib as consolidation-maintenance treatment and that receiving allo-HSCT, the median survival time was 12 months and 15 months (P = 0.300), and the 3-year overall survival rate was 64.7% and 62% (P = 0.505), respectively.</p><p><b>CONCLUSION</b>Of all adult ALL patients, the Ph(+) subgroup accounted for about 16.1%, which have unfavorable prognosis such as lower CR rate and shorter survival duration under traditional chemotherapy. Neither additional chromosome abnormalities to t(9;22) nor co-expression of myeloid antigen had negative effect on CR rate and survival duration. Addition of imatinib to the therapy was beneficial to improve the CR rate and survival duration. Either receiving imatinib as consolidation-maintenance treatment or allo-HSCT after complete remission can improve long-term survival rate of Ph(+) adult ALL group significantly.</p>

Cytogenetic analysis of 154 case of acute myeloid leukemia with t(8;21) / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the cytogenetic features of acute myeloid leukemia (AML) with t(8;21).</p><p><b>METHODS</b>The clinical characteristics of 154 cases of acute myeloid leukemia with t(8;21) in our hospital were analyzed retrospectively. According to the chromosome karyotype, all cases were divided into three groups: the group without additional chromosome abnormality, the group with single sex chromosome loss and the group with additional chromosome abnormalities other than sex chromosome loss.</p><p><b>RESULT</b>In this study, according to FAB classification, there were 127 cases of M2 (82.5%), 15 of M5 (9.7%), 6 of M4 (3.9%), 4 of M1(2.6%) and 2 of M0(1.3%). Cytogenetically, 85 (55.2%) AML patients with t(8;21) had additional chromosome abnormalities. The most common abnormalities were sex chromosome loss, of which -Y was detected in 44.1% of the male karyotype and X in 27.9%. Beside that, there were 9 cases of 9q- (5.8%), 5 of +8(3.3%),3 of +4(2.0%) and 17 of other chromosome anomalies (11.4%). In the group of t(8;21) with additional chromosome abnormalities, 11 cases (35.5%) were non-M2 AML, higher than that in single t(8;21) group (17.4%)(P<0.05); however, there was no significant difference between the group of single t(8;21) and the group of t(8;21) with single sex chromosome loss(P>0.05).</p><p><b>CONCLUSION</b>t(8;21) translocation is usually accompanied by additional chromosome abnormalities, particularly in M2; while t(8;21) with additional chromosome abnormalities other than sex chromosome loss is more frequently observed in non-M2 AML.</p>

Cytogenetic analysis on 135 cases of chronic myelogenous leukemias with non-simple Philadelphia chromosome / 中国实验血液学杂志

The purpose of this study was to investigate 135 cases of chronic myelogenous leukemia with non-simple Philadelphia chromosome and to analyze their cytogenetic date. Chromosome preparations in 135 cases of patients were performed by using direct method and/or short-term culture, and karyotyping was performed with R-banding technique. The results showed that the overall frequency of chronic myelogenous leukemia with non-simple Philadelphia chromosome (based on 1210 cases of chromosome detection in chronic myelogenous leukemia) was 11.16%, which included 87 cases of chronic phase, 21 cases of accelerated phase and 27 cases of blastic phase. Among 87 cases of patients in chronic phase, 14 cases were with simple variant translocation and 22 cases had complex variant translocation while the others were with other chromosomal abnormalities including 4 cases of +8, 4 cases of + Ph and 2 cases of i (17); among 21 cases of patients in accelerated phage, 4 cases were with +8 and 4 cases were with + Ph while 3 cases were with i (17); among 27 cases of patients in blastic phage, 2 cases were with simple variant translocation and 3 cases had complex variant translocation while the others were with other chromosomal abnormalities including 5 cases of +8, 5 cases of + Ph and 2 cases of i (17). The detection rate of extra chromosomal abnormalities in this group of 135 cases patient were + Ph, +8, i (17), -Y, +19 and +21 in order. There were 16 cases with simple variant translocation and 25 cases with complex variant translocation in in this group of 135 cases. It is concluded that karyotype analysis is helpful in diagnosis, prognosis, pathogenesis and treatment selection for chronic myelogenous leukemia.

Cytogenetic and molecular analysis of 1193 cases with chronic myeloid leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the cytogenetic and molecular genetic features of chronic myeloid leukemia (CML) in Chinese.</p><p><b>METHODS</b>A total of 1193 CML patients were retrospectively studied. Chromosome preparation of bone marrow cells was made using direct and short-term culture. Karyotype and bcr-abl fusion genes were analyzed by R-banding, RT-PCR, respectively.</p><p><b>RESULTS</b>In the 1193 cases, 98.07% was Ph chromosome positive (Ph+) and 1.93% negative (Ph-). In the Ph+ patients, 95.64% was classical Ph and 4.36% variant rearrangements. Additional genetic changes were demonstrated in 11.88% of classical Ph cases. Cytogenetic clonal evolution was found in 7.94% of patients in chronic phase (CP), 27.78% in accelerated phase (AP), and 49. 04% in blast crisis (BC). Among the classical Ph cases, +Ph, +8, -21 were found in 14.62%, 10.77% and 7.69% of them respectively. In patients in BC and AP, the most common additional chromosome changes were + Ph (28.57%), +8 (16.67%) and +19 (7.14%), while in CP, -21 (10.26%), +Ph (8.97%), and +8 (8.97%). The combination of +Ph and +8 (3.60%) was the most frequent of combination pattern. 524 cases were investigated for bcr-abl fusion gene, and 54.01% was b3a2 (+) and 27.67% b2a2 (+).</p><p><b>CONCLUSION</b>In Chinese CML patients seem to have their unique features in terms of cytogenetic clonal evaluation.</p>

Karyotype analysis of 283 cases of myelodysplastic syndrome / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To explore the implication of karyotype analysis in diagnosis and prognosis of myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>The chromosomes were prepared with direct method, brief culture of cells and R-banding techniques, and then the karyotypic analysis was performed.</p><p><b>RESULT</b>Seventy-seven out of 283 patients (27.21%) had karyotypic abnormalities, including the numeral abnormalities of chromosomes and structural alterations. The most common chromosomal aberrations were +8, -20/20q-, -Y, translocation, -7/7q-, +9, -5/5q-. The rate of abnormal karyotype in refractory anemia with erythroblasts (RAEB) and refractory anemia erythroblasts-transformation (RAEB-t) was much higher than in refractory anemia (RA). Patients with abnormal karyotype or higher IPSS scores had a higher risk of transformation into acute leukemia than patients with normal karyotype or lower IPSS scores (P<0.05).</p><p><b>CONCLUSION</b>MDS is a highly heterogenous disorder and karyotype analysis is helpful for its diagnosis and prognosis estimation.</p>

Cytogenetic and clinical analysis of -7/7q- abnormalities in acute leukemia and myelodysplastic syndrome / 中国实验血液学杂志

The objective was to study the incidence and prognosis significance of -7/7q- abnormalities in acute leukemia and myelodysplastic syndrome. Conventional cytogenetic analysis of R-band was used to test -7/7q- chromosome abnormalities in 410 patients with acute leukemia (AL), in 71 cases of myelodysplastic syndrome (MDS) and in 36 cases of chronic myelogenous leukemia in accelerated phase (CML-AP). The results showed that the incidences of -7/7q- abnormalities in AL, MDS and CML-AP patients were 4.88%, 9.86% and 8.33% respectively. The -7/7q- abnormalities could be found in acute myeloblastic leukemia (AML) and acute lymphocytic leukemia (ALL), incidences of which were 4.70% and 6.25% (P > 0.05) respectively. 9 cases had -7 or 7q- as the sole chromosome abnormalities, 22 cases showed other additional chromosome abnormalities: -X, -5, +8, t(3; 3), t(11;16) and t(2;11). Monosomy -7 and 7q- abnormality clone was found in one patient with MDS-RAEB, and the number of cells with -7 abnormality was greater than that of 7q- abnormality cells. Four patients acquired CR among 7 patients with ALL after chemotherapy, but 2 out of 13 patients with AML achieved CR while 6 out of 7 patients with MDS transformed into AL. No patients with CML-AP achieved CR. In conclusion, -7/7q- is a frequent aberration in hematologic malignancies as well as AML and ALL. The monosomy -7 and 7q-abnormalities were detected in the same patient. The patients with -7/7q- abnormalities show poor prognosis.

Clinical and laboratory investigation of four acute myeloid leukemia patients with t(3;3) translocation / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory characteristics of four acute myeloid leukemia with t(3;3) translocation.</p><p><b>METHODS</b>Bone marrow cell chromosome karyotype analysis were carried out with direct method and short-term culture and R-banding technique.</p><p><b>RESULTS</b>Four AML patients with t(3;3) translocation were identified. They did not obtain complete remission after chemotherapy and the median survival time was 4.5 months.</p><p><b>CONCLUSIONS</b>t(3;3) translocation is a rare chromosome abnormality, which has mostly been found in myeloid leukemia and the prognosis of these patients is poor.</p>

Analysis of 32 cases of acute leukemia with abnormality of chromosome 7 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the incidence and prognostic significance of chromosome 7 anomaly in acute leukemia.</p><p><b>METHODS</b>Conventional cytogenetic analysis of R-band was used to detect the abnormalities of chromosome 7 in 410 acute leukemia patients.</p><p><b>RESULTS</b>Thirty-two cases (7.8%) with abnormalities of chromosome 7, of which 19 (59.4%) had -7/7q-; 3(9.4%) had t(7;11); and the rest had other abnormalities such as der(7), +7, t(2;7), t(5;7), t(7;9), t(7;8) and dic(1;7). The incidence of -7/7q- in M0, M1 and M2 was higher than that in other subtypes of acute myeloid leukemia (AML). Twenty cases had additional cytogenetic aberrations, such as t(9;22) with -7, +8, -5. In 30 cases treated with chemotherapy, 11 cases acquired complete remission (CR) and the CR rate was lower than that for all concurrent cases of acute leukemia(36.7% vs 65.8%); the CR rate of AML with -7/7q- was lower than that of AML with normal karyotype(25% vs 55.6%). There was no difference in the CR rate between acute lymphocytic leukemia(ALL) with -7/7q- and ALL with normal chromosome (57.1% vs 77.8%), but 4 cases with -7/7q- which attained complete remission for a time relapsed early. In other 11 patients with additional chromosome 7 aberration, only 4 patients acquired CR.</p><p><b>CONCLUSION</b>-7/7q- was the frequent aberration in chromosome 7 anomaly, which was often detected in M0, M1 and M2. It might be associated with the pathogenesis of acute leukemia; the patients with chromosome 7 anomaly had poorer prognosis.</p>

Clinical and experimental study of 38 cases with trisomy 8 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the role of trisomy 8 in pathogenesis and progression of hematologic disease with trisomy 8.</p><p><b>METHODS</b>The clinical data on 38 cases with trisomy 8 were investigated retrospectively. Fluorescence in situ hybridization (FISH) using Spectrum Orange labeled chromosome 8 centromere specific probe was carried out to detect trisomy 8 in 10 cases.</p><p><b>RESULTS</b>Thirty-two of 38(84.2%) cases with trisomy 8, and fourteen of 17(82.4%) cases with trisomy 8 as the sole chromosome aberration were myeloid disorders such as myelodysplastic syndrome (MDS), acute myelocytic leukemia (AML), chronic myelocytic leukemia (CML). The incidence of trisomy 8 was higher in myeloid disease than in lymphocytic disease (5% vs 1.3%); the incidence of trisomy 8 was higher in acute monocytic leukemia than in other AML (6.1% vs 2.4%), and the incidence of trisomy 8 in chronic myelomonocytic leukemia( CMML) was higher than that in other myelodysplastic syndrome (MDS) (25% vs 13.2%); 17 cases had trisomy 8 as the sole chromosome aberration, 21 cases had other additional chromosome aberrations. The chromosome aberration was confirmed by FISH in 10 cases with trisomy 8 as the sole chromosome aberration. Eleven cases were treated with chemotherapy, among them only 10 cases data were available. Seven cases acquired complete remission but 3 of them were M3, the other 3 cases had no response after two courses of chemotherapy.</p><p><b>CONCLUSION</b>Trisomy 8 may play an important role in the pathogenesis and progression of the hematological disease, especially myeloid disease. Trisomy 8 might be related with differentiation abnormality of monocyte.</p>