Acute myeloid leukemia with t(11;12)(p15;q13) translocation: two cases report and literature review / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory features of acute myeloid leukemia (AML) with t(11;12)(p15;q13) translocation.</p><p><b>METHODS</b>Two cases of AML with t(11;12)(p15;q13) translocation were reported and the related literatures were reviewed.</p><p><b>RESULTS</b>The diagnosis of AML-M3 was supported by morphological, cytochemical staining and electron microscope tests. A rare t(11;12)(p15;q13) translocation, but not classical t(15;17)(q22;q12) translocation and PML- RARα fusion gene, was detected in both cases. Both of the patients were refractory to differentiation induction therapy such as retinoic acid and arsenic trioxide.</p><p><b>CONCLUSION</b>AML is a group of heterogeneous disease derived from hematopoietic stem cell. Cytogenetic characteristic is important for diagnosis, prognosis stratification and therapy selection. Because of the heterogeneity of clinical and molecular features, it is unsuitable to classify AML with t(11;12)(p15;q13) as AML with recurrent cytogenetic aberration. This group of disease may benefit from allogeneic hematopoietic stem cell transplantation.</p>

Study on the role of fluorescence in situ hybridization in cytogenetic evaluation of myelodysplastic syndrome / 中华血液学杂志

<p><b>OBJECTIVE</b>To exploit the role of bone marrow (BM) and peripheral blood (PB) fluorescence in situ hybridization (FISH) in cytogenetic evaluation of myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>The metaphase cytogenetics and BM interphase FISH were prospectively compared in 112 cases of de novo MDS. At the same time, comparison of BM and PB FISH was conducted in 56 cases.</p><p><b>RESULTS</b>The differences between metaphase cytogenetics and BM FISH were observed in 22 (54%) of 41 cases with clonal karyotypic abnormalities, most of differences were caused by the limitation of FISH probe panel which could not target all of the regions with aberrations. Only 6 (27%) of 22 differences were involved in our probe regions, the FISH results did not change their cytogenetic risk categories. BM FISH testing was abnormal in 15 (21%) of 71 cases with normal karyotypes, FISH testing was abnormal in 14/51 (27%) and 1/20 (5%) cases with fewer than 20 normal metaphases or more than 20 normal metaphases. Comparison of FISH results of PB and BM samples showed abnormal PB FISH results in 21 (72%) of 29 cases with abnormal BM FISH results, and in 1 (4%) of 27 cases with normal BM FISH results.</p><p><b>CONCLUSION</b>BM FISH should be used to MDS cases with fewer than 20 normal metaphases. Although PB FISH testing is limited by a relatively high false negative rate, it is a reasonable choice to cases with failure of BM aspiration.</p>

Clinical and laboratory studies of 11 acute myeloid leukemia patients with t(7;11) (p15;p15) translocation / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate clinical and laboratory characteristics of acute myeloid leukemia (AML) patients with t(7;11)(p15;p15).</p><p><b>METHODS</b>Eleven patients with t(7;11)(p15;p15) were retrospectively reviewed involved in cell morphology, immunophenotype, cytogenetics as well as clinical features and prognosis.</p><p><b>RESULTS</b>Eight patients out of the eleven were female, six patients were AML-M2a, two M4, two M5, and one M6. All the 11 cases expressed CD33, 10 expressed CD117 and CD13, HLA-DR and CD34 was expressed in 7 and 6 patients, respectively. Karyotypes of all the patients were t(7;11) (p115;p15), additional trisomy 8 were found in only one patient. FLT3-ITD was positive in one of nine patients who were analysed for FLT3-ITD and FLT3-TKD. Two patients were alive, and one lost to followed up, while the rest of eight were dead.</p><p><b>CONCLUSION</b>The t(7;11) (p15;p15) abnormalities is one of rare chromosomal translocation in patients with AML. AML patients with t(7;11) (p15;p15) have clinical features of anemia, thrombocytopenia, higher white blood cell, and poor prognosis.</p>

Probe of classification of adult acute lymphoblastic leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the biologic features of adult acute lymphoblastic leukemia (ALL), and reclassified our ALL patients according to the 2008 WHO classification.</p><p><b>METHODS</b>Immunophenotype and cytogenetic/molecular genetic results were obtained by flow cytometry, R-banding and RT-PCR, respectively.</p><p><b>RESULTS</b>(1) A total of 412 newly diagnosed and previously untreated adult ALL patients, were 239 males and 173 females. Among 410 patients with available immunophenotypic results, 357 were B-ALL and 53 T-ALL. Myeloid antigen (MyAg) was higher expression in B-ALL than in T-ALL, and was correlated with the expression of CD34. (2) 93 Ph + ALL patients, mainly CD10 ALL, was associated with high WBC count and MyAg and CD34 expression. MLL rearrangement was found in 12 cases, mainly pro-B ALL. (3) 299 cases could be analysed, according to the 2008 WHO classification of ALL, including 126 B-ALL with recurrent genetic abnormalities, and 120 B-ALL not otherwise specified. Among the 126 B-ALL with recurrent genetic abnormalities, 92 were Ph + ALL, 10 MLL + ALL, 11 hyperdiploid, 9 hypodiploid, 3 E2A-PBX +, and 1 TEL-AML1 +. Patients with Ph +, MLL +, hypodiploid or E2A-PBX + were associated with older age, higher WBC count, higher HGB, higher peripheral blasts and higher LDH level as compared with other patients.</p><p><b>CONCLUSION</b>Combination of immunophenotype and cytogenetic-molecular profiles can provide a further detailed classification of B-ALL.</p>

Analysis of effectiveness and prognostic factors for (m)HAD regimen as induction therapy in acute monocytic leukaemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the treatment outcome and impact of cytogenetic abnormalities on the response and survival of acute monocytic leukaemia (AMOL) patients received (m)HAD regimen as induction chemotherapy.</p><p><b>METHODS</b>Seventy-nine AMOL patients were treated with (m)HAD regimen as induction therapy (HHT 2 mg/m(2), d 1-7; Ara-C 100 mg/m(2), d 1-7 and increasing to 1.5 g×m(-2)×(12 h)(-1), d 5-7 in some patients; DNR 40 mg/m(2), d 1-3). The treatment outcome and prognostic factors were analyzed.</p><p><b>RESULTS</b>(1) The complete remission (CR) rate was 79.7% (63/79), partial remission (PR) rate was 6.3% (5/79), overall rate was 86.0%. (2) The chromosome karyotypes were analyzed in 75 patients, of whom 43 with normal karyotypes (NCR) and 30 abnormal karyotypes (ACR). For the cytogenetic prognostic groups, 49 patients were intermediate, 18 poor and 6 unknown. The CR, 1-year and 3-year overal survival (OS) rates in NCR group were significantly higher than those in ACR group (P < 0.05); but there was no significantly statistical difference in disease free survival (DFS) between the two groups (P > 0.05). The CR, 1-year OS, 3-year OS and 1-year DFS and 3-year DFS rates in intermediate prognostic group were significantly higher than those in poor prognostic group (85.7% vs 61.1%, 75.9% vs 51.3%, 65.4% vs 25.6%, 82.2% vs 66.7%, and 77.9% vs 26.7%, respectively) (P < 0.05). (3) Chromosome karyotype and the number of consolidation therapy courses had more important influence on survival in COX analysis.</p><p><b>CONCLUSION</b>(m)HAD regimen as induction chemotherapy for AMOL patients achieves a high CR rate. It has an important influence on survival for the patients to received adequate consolidation therapy. The frequency of cytogenetic abnormalities in AMOL is similar to that in other AMLs. The prognosis of AMOL patients with chromosome karyotype in intermediate prognostic group is significantly better than that in poor prognostic group.</p>

The significances of 13q14 deletion for development and prognosis of multiple myeloma / 中华血液学杂志

<p><b>OBJECTIVE</b>To determine the incidence and clinical significance of chromosome 13q14 deletion in multiple myeloma (MM).</p><p><b>METHODS</b>Bone marrow samples were collected from 132 newly diagnosed MM patients referred to our hospital. Interphase fluorescence in situ hybridization (i-FISH) combined with magnetic activated cell sorting (MACS) were performed on chromosome 13q14 (RB-1).</p><p><b>RESULTS</b>(1) i-FISH was used to investigate CD138-enriched bone marrow MM cells and revealed a 13q14 deletion rate of 51.5% (68/132), while conventional cytogenetic (CC) analysis revealed 13q deletions/monosomy 13 (Δ13) only of 5.0%(6/120). (2) Univariate analysis showed that 13q14 deletion rate by i-FISH > 25%, bone marrow plasma cells > 50%, ISS stage and β(2)-MG ≥ 5.5 mg/L were associated with shorter overall survival (OS). Multivariate analysis revealed that 13q14 deletion rate by i-FISH > 25% was an independent unfavorable factor (P = 0.042). (3) Patients treated with bortezomib had a much better response than those treated with traditional chemotherapy (P = 0.001). There was no significant difference in OS between patients received bortezomib with and without 13q14 deletion (P > 0.05), indicating that bortezomib could reverse the poor prognosis of 13q14 deletion.</p><p><b>CONCLUSION</b>(1) i-FISH followed CD138 cell sorting appears to be a highly sensitive method for detecting 13q14 deletion. (2) 13q14 deletion rate by i-FISH > 25% is an independent unfavorable factor. (3) Bortezomib could reverse the poor prognosis of 13q14 deletion.</p>

Influence of immunomagnetic sorting on detecting genetic aberration of multiple myeloma cells by interphase fluorescence in situ hybridization / 中国实验血液学杂志

This study was to aimed investigate the influence of immunomagnetic sorting on detecting the genetic aberrations of multiple myeloma (MM) by interphase fluorescence in situ hybridization (FISH) and to explore the detection method suitable to use in our country. The genetic aberrations of immunomagnetically sorted and unsorted bone marrow cells from the same MM patients were detected by interphase FISH and the detectable rate of genetic aberration was compared. The types of probes included 13 q14 (RB-1) and 14q32 (IGH). The 42 and 22 sorted and unsorted marrow samples from MM patients were detected by using 13q14 probe and 14q32 probes respectively, the results indicated that the 13q14 deletion was found in 9 of 42 (21.4%) unsorted marrow samples and in 25 of 42 (56.8%) CD138(+)-sorted marrow samples. The 13q32 rearrangement was found in 7 of 22 (31.8%) unsorted marrow samples and in 14 of 22(63.6%) CD138(+)-sorted marrow samples. Both of the difference was statistically significant (p = 0.001 and p = 0.035 respectively). Percentages of cytogenetic alterations detected in unsorted bone marrow cells correlated positively with percentage of plasma cells tested by bone marrow smears or flow cytometry. When percentage of plasma cells tested by bone marrow smears exceed 50%, or by flow cytometry exceed 10%, there was no difference between 2 methods. It is concluded that immunomagnetic sorting of CD138(+) cells increases the probability of detection of the 13q14 deletion and 14q32 rearrangement in bone marrow samples. The low detectable rate of genetic aberration in unsorted bone marrow cells is associated to the low percentage of plasma cells in bone marrow samples, higher percentage of plasma cells can partly overcome the shortage of unsorted detection method. When percentage of plasma cells tested by bone marrow smears exceed 50%, or by flow cytometry exceed 10%, there was no difference between 2 methods.

Clinical and laboratory investigation of patients with hematologic malignancies harboring der(1;7)(q10;p10) / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory characteristics of patients with various hematological malignancies harboring der(1;7)(q10;p10).</p><p><b>METHODS</b>Bone marrow samples were collected and undergone short-time unstimulated culture and R-banding, and karyotyped by conventional cytogenetic assay (CCA). Megalokaryocytes were detected by streptavidin-AKP (SAP). Retrospective analyses including the clinical and laboratory data were performed.</p><p><b>RESULTS</b>Nineteen of the 21 patients were male. Most of the patients are of older age. Thirteen cases (61.9%) were der(1;7)(q10;p10) without additional aberrations, 8(38.1%) patients had additional aberrations. Sixteen out of the 18 cases (88.9%) who underwent SAP analysis had diminutive megalokaryocyte, and lymphoid megalokaryocyte was found in 10 cases (55.6%). The der(1;7) patients manifested poor response to treatment.</p><p><b>CONCLUSION</b>The der(1;7) patients demonstrated distinct male predominance, older age at diagnosis, and some clinically distinctive features. These patients showed poor prognosis. The cytogenetic abnormality, i.e., der(1;7)(q10;p10), can be used as a prognostic indicator.</p>

Study on prognostic significances of different cytogenetic risk categories in patients with primary myelodysplastic syndromes / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze significances of different cytogenetic categories for prognostic stratification in patients with primary myelodysplastic syndromes (MDS).</p><p><b>METHODS</b>Chromosomal abnormalities of 532 primary MDS patients were categorized according to cytogenetic categories of International Prognostic Scoring System (IPSS), Revised IPSS (IPSS-R), and German-Austrian (G-A). Prognostic impacts of different cytogenetic categories and frequent isolated anomalies were investigated.</p><p><b>RESULTS</b>Of 532 patients, 346(65%) patients had clonal cytogenetic abnormalities, including 200(38%) patients had 1 abnormality, 61(11%) patients had 2 abnormalities, and 85(16%) patients had complex abnormalities. Trisomy 8 was the most frequent karyotype abnormality, occurring in 31% of the patients with clonal cytogenetic abnormalities, other frequent anomalies were -7/del(7q)(13%), del(20q)(12%), del(5q)(9%), -18(5%), -21(5%), i(17q)(5%), -Y(4%), -17(4%), +21(4%), -13/del(13q)(4%), and -22(4%). The proportion of poor karyotypes of IPSS was higher in RAEBI and RAEBII among the World Health Organization classifications than in subgroups with less than 5% blasts. The follow-up data were available for 310 patients with a median follow-up duration of 14.5 months. Median survival was 59 months for patients with normal karyotypes and 26 months for those with abnormal karyotypes. According to IPSS cytogenetic categories, the median survivals of good-risk subgroup, intermediate-risk subgroup and poor-risk subgroup were 59, 43 and 12 months, respectively (P < 0.01). For IPSS-R cytogenetic groups, the median survivals of good-risk subgroup, intermediate-risk(int-risk) subgroup, poor-risk and very poor-risk subgroup were 59, 36, 15, and 10 months, respectively (P < 0.01). According to G-A classification, the median survivals of good-risk subgroup, int-1-risk subgroup, int-2-risk subgroup and poor-risk subgroup were 59, 44, 15, and 11 months, respectively (P < 0.01). In frequent isolated karyotypic abnormalities, +8 had a median survival of 44 months, i(17q) had a median survival of 12 months, and -7/del(7q) had a median survival of 14 months.</p><p><b>CONCLUSION</b>In comparison with IPSS and G-A categories, IPSS-R cytogenetic categories are more sophisticated, and can stratify prognosis effectively, but prognostic significances of some karyotypes in IPSS-R still need to be confirmed.</p>

Clinical and cytogenetic features and their influencing factors of core binding factor acute myeloid leukemia / 中国医学科学院学报

<p><b>OBJECTIVE</b>To discuss the clinical and cytogenetic features of core binding factor (CBF) acute myeloid leukemia (AML) patients and the main factors that influence the prognosis.</p><p><b>METHOD</b>Totally 130 CBF AML patients were followed up and their clinical features, immunophenotype, chromosome karyotype, treatment regimen, overall survival (OS), and relapse-free survival (RFS) were analyzed.</p><p><b>RESULTS</b>The overall complete remission (CR) rate was 96.1%, among which the CR rate after the first treatment course was 77.2%. The overall median OS was 51.64 (0.26-132.5) months, while the median RFS did not reach 1.18-96.62 months. The 3-year OS was 50% and the 5-year OS was 41%; the 3-year RFS was 59% and the 5-year RFS was 54%. Patients who were over 45 years and those with chromosome karyotype of 9q- tended to have poorer prognosis. During the consolidating chemotherapy, patients who had received two or more courses of intermediate-dose Ara-C therapy had better prognosis and longer survival. AML patients with inv (16) /t (16; 16) had a significantly higher OS than those with t (8; 21) (P = 0.046), while the RFS showed an opposite finding (P = 0.038).</p><p><b>CONCLUSIONS</b>Age, chromosomal karyotype, and consolidating chemotherapy are the main factors that influence the survival and prognosis of CBF AML patients. Two or more courses of intermediate-dose Ara-C during consolidating chemotherapy can obviously prolong the OS and RFS of CBF AML patients. AML patients with a chromosomal karyotype of inv (16) /t (16; 16) have longer OS and better prognosis than those with t (8; 21).</p>

Clinical features and prognosis of acute myeloid leukemia-M(4) / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate factors that affect survival and prognosis of acute myeloid leukemia (AML)-M(4).</p><p><b>METHODS</b>Seventy AML-M(4) patients were divided into three groups, neither eosinophilia nor inv(16)\[Eos(-)\], eosinophilia with inv (16)\[Eos(+) inv(16)(+)\], and eosinophilia with no inv(16)\[Eos(+) inv(16)(-)\]. Clinical features, immunophenotype, chromosome karyotype, overall survival (OS) and relapse-free survival (RFS) were analyzed.</p><p><b>RESULTS</b>The total complete remssion (CR) rate was 85.7%, CR rate after the first course of induction therapy was 71.4%. The median OS was 20 (1.2 - 162.4) months, and median RFS 78.0 (1.2 - 129.5) months. The 3 and 5 year OS rates were 42% and 42%, and 3 and 5 year RFS rates were 59% and 54%, respectively. The CR rate, CR after the first course of induction therapy and the median OS for the Eos(-) group were 76.9%, 61.5% and 11.2 (1.2 - 162.4) months; for the Eos(+) group were 96.8%, 89.6% and did not reach; for the Eos(+)inv16(+) group were 100%, 94.4% and did not reach; and for the Eos(+) inv(16)(-) group were 91.7%,69.2% and 14.3 months respectively. The statistical assay showed significant difference between Eos(+)inv(16)(-) and Eos(+)inv(16)(+) groups in OS. The Eos(+) patients present with early onset and low count of platelets.</p><p><b>CONCLUSION</b>Eosinophilia emerged as a favorable prognostic factor, and the concomitant presence of both eosinophilia and inv(16) is associated with a significantly favorlable prognosis.</p>

Study on clonal evolution of monosomy 7 in patients with aplastic anemia by interphase- fluorescence in situ hybridization / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the clonal evolution of monosomy 7 in patients with aplastic anemia (AA).</p><p><b>METHODS</b>Monosomy 7 (-7) in 81 AA patients with normal karyotype at diagnosis and 46 AA treated with immunosuppressive therapy (IST) and more than 6 months of recombinant human granulocyte colony-stimulating factor (rhuG-CSF) were detected by interphase- fluorescence in situ hybridization (FISH) retrospectively.</p><p><b>RESULTS</b>There were 5.4% - 7.6% of -7 cells in 11 (13.6%) of 81 patients at diagnosis, the survival and response rate to IST in -7 positive patients did not differ significantly from that in -7 negative patients (P = 0.481, 0.865); -7 cells disappeared after IST in all of the 11 patients including 5 received long-term rhuG-CSF therapy, and none of them evolved to myelodysplastic syndromes/acute myeloid leukemia (MDS/AML) at a median follow-up of 44 months. Serial assessments of -7 clones were performed in 46 patients, none of whom detected -7 clones 3-6 months after IST, but -7 recurrence in 5 patients 12 - 15 months after IST. At a median follow-up of 48 months, FISH identified 6 patients with -7 clones while the conventional cytogenetic analysis (CCA) recognized in 5. Moreover, the first demonstration of -7 by FISH was 3 - 18 months earlier than that by CCA. All of the 6 patients with FISH detected -7 evolved to MDS/AML with -7 and four of them were retrospectively analysed for in samples at -7 diagnosis of AA, but none of them was positive.</p><p><b>CONCLUSIONS</b>Monosomy 7 exists in a part of AA patients, but the preexisting -7 cells seems neither associated with fatality nor evolvation to MDS/AML. rhuG-CSF might facilitate the expansion of -7 clones; It is necessary to monitor -7 in AA, especially when received long-term rhuG-CSF therapy.</p>

Identification of complex chromosomal aberrations in acute leukemia by using conventional cytogenetics combined with multiplex fluorescence in situ hybridization / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the value of multiplex fluorescence in situ hybridization (M-FISH) technique in the detection of the complex chromosomal aberrations (CCAs) and marker chromosomes in acute leukemia (AL).</p><p><b>METHODS</b>M-FISH was performed in 11 AL patients with R-banding CCAs or marker chromosomes to define the unrecognized chromosomal aberrations and the constitution of marker chromosomes, and to identify small and cryptic translocations.</p><p><b>RESULTS</b>In the 11 AL cases studied, 27 numerical and 41 structural chromosomal abnormalities were detected by conventional cytogenetics (CC), among which 3 chromosomal gains and 9 chromosomal losses as well as 12 structural abnormalities were confirmed by M-FISH, and another 15 chromosomal losses were revised by M-FISH as derivative chromosomes. M-FISH detected 3 additional chromosomal gains that were undetected by CC. The other 29 structural abnormalities including 17 marker chromosomes were characterized by M-FISH. A total of 33 structural abnormalities were detected by M-FISH, in which 6 were unreported before, i.e. t(5q-;16)(? q14;q24), der(9)(Y::9::Y::9), der(7) (7::8::9), ins(20;21), der(11) (11::21::20) and der(3)t(3p-;13)(3p-;q21), most of which resulted from unbalanced translocations. Almost all chromosomes were involved in CCAs, the more common ones were chromosome 17, 5, 7, 15, 11 in AML and 8, 9, 14, 22 in ALL.</p><p><b>CONCLUSION</b>Combining M-FISH with CC can raise resolution of the latter, which justifies its clinical application for the detection of CCAs and marker chromosomes.</p>

Clinical and laboratory characteristics of 16 patients with acute lymphoblastic leukemia (ALL) harboring 19p13 abnormalities / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory characteristics of patients with acute lymphoblastic leukemia (ALL) bearing 19p13 abnormalities.</p><p><b>METHODS</b>The morphologic, immunophenotypic, cytogenetic, and clinal features as well as prognosis of 16 ALL patients with 19p13 abnormalities were retrospectively analyzed. The clinical features and laboratory findings between t(1;19) and der(19) groups were compared.</p><p><b>RESULTS</b>Sixteen (4.02%) out of 398 ALL patients had 19p13 abnormalities, among them 15 cases were t( 1;19) (q23;p13) [balanced t(1;19) (q23; p13) in 8 and unbalanced der(19) t(1;19) (q23;p13) in 7] and 1 case t(17;19) (q22;p13). The WBC count and blast cell number were higher in the t(1;19) group. The prognosis was better in der(19) t(1;19) group than in balanced translocation t(1;19) group.</p><p><b>CONCLUSION</b>The 19p13 abnormality is one of the non-random chromosomal aberration in patients with ALL. ALL patients with 19p13 abnormalities have unique clinical features and poor prognosis.</p>

Study on karyotypic abnormalities and its prognostic significance in Chinese patients with primary myelodysplastic syndromes / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the features and prognostic significance of chromosomal karyotype in patients with primary myelodysplastic syndromes (MDS).</p><p><b>METHODS</b>Results of chromosomal karyotypes of 351 adult patients with primary MDS were retrospectively analyzed.</p><p><b>RESULTS</b>Two hundred and thirty-seven cases (67.5%) had karyotypic abnormalities. Of them, 99 (41.7%) were numerical, 70 (29.5%) were structural, and 68 (28.8%) were complex abnormalities. In addition, among the 237 patients with chromosomal abnormalities, 130 (54.8%) showed single abnormality, 54 (22.8%) double abnormalities and 53 (22.4%) complex abnormalities (> or = 3 two independent aberrations). Four cases (1.7%) were multiploid. Aneuploidy or of chromosomal arm anomaly were detected all of the 46 chromosomes and the aberrations in frequent order were +8, -20/20q-, -7/7q-, -5/5q-, -18, -11/11q-/, +21, -Y, -21, -10, -16, -22, +9, del(12)(p12). The incidence of -5/5q- (5.1%) was lower in our series than in western countries (8.7% -23.4%) and 5q- syndrome was even less (0.3%). The incidences of +8 (19.1%) and -20/20q- (9.4%) were higher in our series than in western countries (1.2% -7.0%, 2.0% -3.5%, respectively). Chromosome translocations were detected in 31 cases (13.1%), including 12 novel translocations that have not been reported in MDS patients before. In addition, i(17)(q10) was detected in 9 cases (3.8%) of which 6 were simplex abnormality. Chromosomal duplication presented in 7 cases (3.0%) with 4 cases involved chromosome 1. According to IPSS chromosomal prognostic classification, the incidence of poor-risk karyotypes was increased in the advanced WHO subtypes (P < 0.001). The follow-up data were available in 177 patients with a median follow-up duration of 14.5 (1-131) months. The median OS was 36 [95% confident interval (CI) 25-46] months. According to IPSS chromosomal prognostic classification, the median OS of patients with good, intermediate and poor-risk cytogenetic subgroup were 51 (95% CI 25-77), 35 (95% CI 5-65) and 13 (95% CI 9-17) months, respectively (P = 0.004) and for NN-AN-AA karyotype classification, the median OS of NN, AN and AA were 51 (95% CI 24-78), 36 (95% CI 0.3-71) and 23 (95% CI 10-35) months, respectively (P = 0.039).</p><p><b>CONCLUSION</b>The features of chromosomal abnormalities in Chinese patients with primary MDS shows some difference from that in western countries. Karyotype analysis is of great importance to predict prognosis and to tailor individualized therapy for MDS.</p>

Long term outcome of acute myeloid leukemia with t(8;21) / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the influence factors on survival and outcome of acute myeloid leukemia (AML) patients with t(8;21).</p><p><b>METHODS</b>Eighty seven AML patients with t(8;21) after long-term follow-up were enrolled in the analysis of clinical feature, immunophenotype, chromosome karyotype, treatment regimen, as well as the overall survival (OS) and relapse-free survival (RFS).</p><p><b>RESULTS</b>The overall complete remission (CR) rate was 95.3%. CR rate after first course therapy was 69.8%, after first course therapy containing medium dose Ara-C was 86.2%, and after first course of therapy containing standard-dose Ara-C was 60.3%. The median OS duration was 16.4 months, median RFS 11.7 months, 3 year OS rate 42%, 5 year OS rate 39%, 3 year RFS rate 55% and 5 year RFS rate 55%. Male gender chromosome 9q(-) had statistical significance for shorter OS and poor outcome, 2 courses of post-remission therapy with intermediate dose Ara-C, induction therapy with intermediate-dose Ara-C and post-remission with 4 courses consolidation therapy had statistically longer OS and RFS.</p><p><b>CONCLUSION</b>Sex, chromosome karyotype, induction and consolidation therapy were important influence factors on OS and RFS. Application of intermediate dose Ara-C to induction and consolidation therapy leads to a higher CR rate, prolong OS and RFS.</p>

A comparative cytogenetic analysis in large scale between adult and childhood patients with acute lymphoblastic leukemia / 中国实验血液学杂志

This study was purposed to comparatively analyze the cytogenetic characteristics between 566 cases of adult acute lymphoblastic leukemia (aALL) and 586 cases of childhood acute lymphoblastic leukemia (cALL). The cytogenetic analysis of all the patients was performed, and the FISH detection for partial patients was carried out. The result showed that the difference of chromosome abnormality between cALL and aALL was statistically significant. The percentage of abnormal karyotypes in aALL was 62.0%, including mainly t(9;22)(q34;q11), hypodiploidy, hyperdiploidy (47 - 50), abn(6q), abn(9p) and -7, most of which conferring an unfavorable prognosis. The percentage of abnormal karyotypes in cALL was 39.2%, composed mainly of high hyperdiploidy, hypodiploidy, TEL/AML1(+), +8, hyperdiploidy (47 - 50) and +21, etc, most of which conferring a favorable prognosis. The incidences of abnormal karyotypes, total hypodiploidy, total hyperdiploidy (47 - 50), t(9;22)(q34;q11), -7, abn(7q), abn(14q32) and +Ph in aALL were significantly higher than those of cALL (p < 0.05), whereas the incidences of normal karyotype (N), high hyperdiploidy, +8, +21*2 and TEL/AML1(+) in cALL were significantly higher than those of aALL (p < 0.05). 20.5% of aALL were Ph+ aALL, with 63.8% of which being with additional abnormalities, composed mainly of +Ph, -7, i (9q+), 9p-, +8, +21, +X, 6q-, abn(14q32) and +14. In contrast, only 4.4% of cALL were Ph+ aALL, with 42.3% of which being with additional abnormalities, including mainly abn(9p), abn(7p), -7, 17p- and +21. It is concluded that almost every chromosome is involved in the numerical and structural abnormalities and complex karyotypes are common. The significant difference of chromosome abnormality exists between aALL and cALL.

Detection of bcr/abl fusion gene by dual color-dual fusion fluorescence in situ hybridization / 中国实验血液学杂志

This study was aimed to investigate the sensitivity and clinical application of interphase-dual-color and dual-fusion fluorescence in situ hybridization (DC-DF-FISH). The bcr/abl fusion gene was detected by FISH with dual-color and dual-fusion bcr/abl DNA probe in interphase cells of bone marrow from 1295 specimens. Retrospective analysis for the cases was performed by the means of conventional cytogenetic analysis (CCA) and FISH. The results indicated that in 1295 specimens from 539 patients, 456 specimens were positive involved in 310 patients, the karyotypes of 18 patients were normal, 5 patients failed to karyotyping analysis. About 75.5% (234/310) of positive patients displayed the typical DC-DF-FISH signal pattern, 76 patients showed atypical DC-DF-FISH signal patterns, 66 cases out of which showed variant signal, 16 patients displayed typical variant signals (1Y2G2R), 50 patients displayed deletion ABL and/or BCR signal. In 213 patients, the negative rate was 60% (128/213) after the treatment, 12 patients were sometimes negative and sometimes positive during the process of the treatment. It is concluded that DC-DF-FISH can be used to detect karyotypes with masked or variant Ph, gene deletion and minor residual disease (MRD) in process of treatment. The dual-color FISH technique is a much more sensitive and accurate tool for monitoring MRD and monitoring relapse, which is a necessary supplement to CCA.

Clinical and laboratory investigation of hematological malignancy patients carrying 3q21q26 rearrangement / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory characteristics of various hematopoietic malignant patients with t(3;3)(q21;q26) or inv(3) (q21q26).</p><p><b>METHODS</b>Bone marrow samples were collected at presentation, prepared by short-time unstimulated culture and R-binding, and karyotyped by conventional cytogenetical assay (CCA); megalokaryocytes were detected by Streptavidin-AKP (SAP); immunotype of the leukemia cells was tested by flow cytometric anylysis of surface antigens (FACS).</p><p><b>RESULTS</b>All of the 9 hematopoietic malignant patients with t(3;3)(q21;q26) or inv(3) (q21q26) manifested myelodysplasia and poor treatment response. One of them relapsed shortly after allogenic hemotopoietic stem cell transplantation (allo-HSCT).</p><p><b>CONCLUSION</b>Patients with 3q21q26 rearrangement can be found in various hematopoietic malignances and demonstrate an unique entity. These patients show poor treatment response and have extremely poor prognosis.</p>

Clinical and laboratory study of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory characteristics of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia.</p><p><b>METHODS</b>Bone marrow (BM) samples were collected at presentation, prepared by short-term (24 hours) unstimulated culture and R-binding, for conventional cytogenetic assay (CCA). The complex translocation was assayed by fluorescence in situ hybridization (FISH) with a dual-color AML1/ETO-specific probe. AML1/ETO chimeric transcript was detected by reverse transcription polymerase chain reaction (RT-PCR).</p><p><b>RESULTS</b>In both cases CCA demonstrated a complex translocation, t (6; 8; 21) (p22; q22; q22), which was confirmed by interphase and metaphase FISH and AML1/ETO fusion transcript was detected by RT-PCR. Both the two patients were diagnosed as AML-M(2), but with different immunophenotype and therapeutic outcome.</p><p><b>CONCLUSION</b>The t (6; 21; 8) (p22; q22; q22) is a rare variant of complex translocation of t (8; 21) (q22; q22). More such cases are needed for elucidating its clinical features and prognosis.</p>