Yongquan Xue

University of Science and Technology of China

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Jinlan Pan

Soochow University

105

Yafang Wu

University of Shanghai for Science and Technology

Suning Chen

First Affiliated Hospital of Soochow University

Jun Zhang

Ruijin Hospital

Jianyong Li

Jiangsu Province Hospital

Jiannong Cen

First Affiliated Hospital of Soochow University

Juan Shen

Yan'an University

Zixing Chen

Chinese University of Hong Kong

Yong Wang

Chinese People's Liberation Army

Guo Yu

Jinan University

Cooperative Institutions

Chinese Academy of Sciences

245

Soochow University

150

University of Chinese Academy of Sciences

127

First Affiliated Hospital of Soochow University

110

Shanghai Jiao Tong University

National Astronomical Observatories

Tsinghua University

Zhejiang University

Institute of High Energy Physics

Nanjing Medical University

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[Study of trisomy 22 and inversion 16 in acute myeloid leukemia].

PubMed (2007)

Hui-Fen Zhou Jianyong Li Jinlan Pan Hai-rong Qiu Lijuan Chen

To explore the value of trisomy 22 ( +22) in the diagnosis of inv(16) acute myeloid leukemia (AML).Interphase fluorescence in situ hybridization (FISH) was performed in 18 AML patients with +22. The probe was two-color break apart probe for CBFbeta with SpectrumRed on the centromeric side and SpectrumGreen on the telomeric side. The FISH results were compared with that of R-banding conventional cytogenetics (CC). Multiplex FISH (M-FISH) was used to analyze the relationship of +22 and inv(16).CC revealed inv(16) in none of the 18 AML, with +22, but FISH revealed inv (16) in 11 of them and del( 16) (q22) in one. As CC results, 9 of the 11 cases were sole +22, one complicated with trisomy 8, and one del(16) (q22). Four patients with +22 and inv(16) were analyzed by M-FISH and revealed +22 only.+22 can be regarded as an important marker for the diagnosis of inv(16) AML.

Trisomy

Trisomy 8

Multiplex

Interphase

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A Case of Acute Megakaryocytic Leukemia Presenting as Peripheral Acute Leukemia with Complex Karyotypic Abnormalities

Cancer Genetics and Cytogenetics (1998)

Yongquan Xue Daru Lu Lu Dingwei Jianyong Li Yu Guo

Fusion transcript

10.1016/s0165-4608(98)00002-8

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Acute biphenotypic leukemia in the adults.

PubMed (2002)

Yimin Shen Jianyong Li Yongquan Xue Mingqing Zhu Dingwei Lu

To study the clinical, biological features and prognosis of acute biphenotypic leukemia (BAL) in the adults.Bone marrow specimens of 63 BAL patients were evaluated to prove the diagnosis and the classification by morphologic, cytochemical, immunologic and cytogenetic (MIC) examinations. These patients were treated with protocols suitable for acute myeloid leukemia (AML), or acute lymphoblastic leukemia (ALL), or both.No significant difference in clinical features was observed between BAL, AML or ALL. Morphologically, the subtypes of M(5), M(1) and M(2) were predominant in AML, as L(2) and L(1) were in ALL. Immunologically, coexpression of myeloid and B lineage associated antigens was predominant and CD(34) was hyperexpressed in BAL, which suggested that BAL might originate from malignant transformation of earlier hematopoietic cells. Cytogenetically, Ph chromosome was observed in 25.5% (13/51) of BAL patients. Prognostically, both the treatment response and the overall survival of BAL patients were poor.Patients with BAL have unique clinical, biological and prognostic features.

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[Detection of -5/5q- chromosome abnormality in myelodysplastic syndromes by interphase fluorescence in situ hybridization].

PubMed (2001)

Yongmei Shen Yongquan Xue J Li

To evaluate the value of interphase fluorescence in situ hybridization(FISH) in the detection of acquired complete and partial deletion of chromosome 5(-5/5q-) in myelodysplastic syndromes (MDS).Marrow cells from 48 MDS patients and 10 normal controls were studied by interphase FISH using SpectrumRed directly labelled DNA specific probe for 5q31, 200 to 300 cells were scored for each case and cells with a red hybridization signal > 6% were defined as -5/5q- positive.In 48 MDS patients, 13 were positive for interphase FISH, of whom, 7 were positive and 6 were negative for conventional cytogenetics (CC). The difference in the percentage of positive cells detected by the two methods was statistically significant (P < 0.05).Interphase FISH is more sensitive than CC for the detection of -5/5q- in MDS.

Interphase

Hybridization probe

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Citations (2)

[A combined assay of multiplex RT-PCR and karyotypic analysis in childhood acute lymphoblastic leukemia].

PubMed (2004)

Jun He Yongquan Xue Jianqin Li Hailong He Ya-xiang He

To study the value of combination assay of multiplex RT-PCR and karyotypic analysis in the diagnosis and classification of childhood acute lymphoblastic leukemia (ALL).Fifty cases of childhood ALL patients were studied by multiplex RT-PCR in combination with R or G banding karyotype analysis.Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. Among the latter, numeral chromosome abnormalities and chromosome deletions accounted for 75.0% (18/24), while translocations 25.0% (6/24). The multiplex RT-PCR in combination with chromosome analysis could detect genetic abnormalities in 70% (35/50) of childhood ALL.Multiplex RT-PCR combined with chromosome analysis can enhance the detection rate of genetic abnormalities in childhood ALL. It provides reliable evidence for the diagnosis, classification and prognosis.

Multiplex

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Citations (1)

p210BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16)

International Journal of Hematology (2012)

Haiping Dai Yongquan Xue Lili Wu Jinlan Pan Yanlei Gong

ABL

Acute myelomonocytic leukemia

Philadelphia chromosome

10.1007/s12185-012-1190-y

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Citations (12)

Mechanisms of molecular recognition in the pikromycin polyketide synthase

Chemistry & Biology (2000)

Shawn Chen Yongquan Xue David H. Sherman Kevin A. Reynolds

Polyketide synthase

Molecular Recognition

10.1016/s1074-5521(00)00039-9

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Citations (25)

[Analysis of sister chromatid differentiation in myelodysplastic syndrome and its clinical application].

PubMed (2002)

Jun Qian Yongquan Xue Fei Yu Jinlan Pan Yafang Wu

To verify the value of sister chromatid differentiation (SCD) analysis of bone marrow cells in establishing the diagnosis and predicting prognosis of myelodysplastic syndrome (MDS).S-bromodeoxyuridine-SCD and karyotyping studies were performed in 50 cases with clinically suspected MDS.Prolonged cell cycle time (CT) was found in 33 of the 50 cases (66.0%). In 13 cases with acute myeloid leukemia (AML), all had prolonged CT. However, only 2 (10.5%) of the 19 cases with nonmalignant hematological disorders had prolonged CT. There were significant differences of CT between the cases with MDS and those with AML, aplastic anemia (AA) and benign hypercellular anemias as well as healthy individuals. However, there were no significant differences between healthy individuals and cases with AA and, with benign hepercellular anemia. CT gradually prolonged during the evolution of MDS. 24 of the 50 patients (48.0%) were found to have clonal chromosomal abnormalities. In seven cases not compatible with MDS according to FAB criteria, six were found to have clonal chromosomal abnormalities. The mortality rates were 11.8 and 50.0% in the groups of normal SCD and of prolonged SCD, respectively (P < 0.05). The rates of leukemia transformation in both the groups were 5.9% and 16.7% (P > 0.05). The median survival of both the groups was 12 months and 8 months (P = 0.051).SCD analysis is valuable for establishing the diagnosis and predicting the prognosis of MDS.

Aplastic anemia

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[Karyotype analysis in 119 patients with chronic myeloid leukemia at blast crisis].

PubMed (2006)

Yu Zhu Jianyong Li Jinlan Pan Wei Wu Hai‐Rong Qiu

To investigate the karyotype of chronic myeloid leukemia in blast crisis (CML-BC), karyotype analysis was performed with R-banding technique in 119 patients with CML-BC. Dual fusion fluorescence in situ hybridization (FISH) was used to detect derivative chromosome 9 deletions in randomly selected 28 cases of them. The results showed that 11 cases (8.9%) were Ph negative; 113 cases (91.1%) were Ph positive; 104 cases (83.9%) had standard Ph translocation; 9 cases (7.2%) showed variant translocation, including 4 cases (3.2%) with simple variant translocation and 5 cases (4.0%) with complex variant translocation. 72.6% of Ph negative CML-BC had extra chromosomal abnormalities, with the most common ones being i (17q) and +14. 72.3% of Ph positive CML-BC had extra cytogenetic changes and +Ph, +8, i (17q) were the most frequent. The average time between diagnosis and blast crisis was 29.0 months (range 2 to 66 months) for Ph negative cases and 34.2 months (range 1 to 127 months) for Ph positive cases. 5 cases (5/28, 17.9%) with der (9) deletions were detected by FISH technique. It is concluded that extra chromosomal abnormalities are common in CML-BC patients and FISH can effectively detect the der (9) deletions.

Derivative chromosome

Philadelphia chromosome

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[The different signal patterns of two FISH probes in the FISH detection of Ph-positive leukemia and their clinical significance].

PubMed (2010)

Hui Jiang Yongquan Xue Jinlan Pan Jun Zhang Haiping Dai

To compare the signal patterns of dual color extra-signal BCR/ABL probe (ES-FISH) and dual color dual fusion BCR/ABL probe (D-FISH) in the fluorescence in situ hybridization (FISH) detection of Ph-positive leukemia, and to explore their diagnostic value.ES-FISH probe and D-FISH probe were used, respectively, to detect the BCR/ABL fusion gene in 74 cases with typical t(9;22)(q34;q11) and 37 cases with variant t(9;22)(q34;q11) translocation or complex karyotypic abnormalities containing Ph translocation.The BCR/ABL fusion gene in all cases with typical t(9;22)(q34;q11) could be detected by both FISH probes. D-FISH had a signal pattern of 1O1G2F, while ES-FISH showed a signal pattern of 2O1G1F. ES-FISH enables the minor breakpoint cluster region to be identified in 9 cases (12.2% ) of Ph-positive leukemia, whereas D-FISH could not differentiate the minor breakpoint cluster region from major breakpoint cluster region. D-FISH could distinguish simple ABL gene deletion from simultaneous deletion of the ABL and BCR genes in 8 cases (10.8%) of Ph-positive leukemia patients, but ES-FISH could not. For variant Ph translocation or complex karyotypic abnormalities containing Ph translocation, each FISH probe showed four or six types of signal pattern, most of which were atypical. The exact interpretation was dependent on conventional karyotypic analysis and FISH on metaphases.ES-FISH and D-FISH probes displayed different signal patterns in Ph-positive leukemia due to their differences in size and covered regions. ES-FISH and D-FISH probes may be selected as better probe for Ph-positive acute lymphocytic leukemia and Ph-positive chronic myeloid leukemia, respectively. When imatinib was used for treatment, there was no preference between ES-FISH and D-FISH probe, because major breakpoint cluster region, minor breakpoint cluster region and partial sequence deletion of derivative chromosome 9, would not affect the prognosis of Ph-positive leukemia. However, considering that ES-FISH probe has a better cost-performance than D-FISH probe does, it is recommended as first choice.

breakpoint cluster region

ABL

Breakpoint

10.3760/cma.j.issn.1003-9406.2010.02.011

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