细胞遗传学检测在慢性髓性白血病中的临床意义
目的探讨酪氨酸激酶抑制剂（TKI）时代，慢性髓性白血病（cML）病程演进与细胞遗传学的关系。方法应用骨髓细胞短期培养法，对387例初诊CML患者行染色体G显带技术核型分析，结合ABL激酶区点突变检测分析细胞遗传学变化与CML病程演进的关系。结果间接荧光原位杂交（FISH）技术检测387例CML患者BCR—ABL融合基因阳性，其中Ph’CML占94．1％（364／387），Ph—CML占5．9％（23／387）；标准易位t（9；22）（q34；q11）320例（87．9％），变异易位5例（1．4％），初诊Ph’合并额外染色体异常（ACA）39例（10．7％）。合并ACA中“主要路径”异常22例（...
Saved in:
| Published in | 中华血液学杂志 Vol. 38; no. 2; pp. 112 - 117 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Chinese |
| Published |
南方医科大学南方医院血液科, 广州,510515
2017
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 0253-2727 |
| DOI | 10.3760/cma.j.issn.0253-2727.2017.02.006 |
Cover
| Abstract | 目的探讨酪氨酸激酶抑制剂（TKI）时代，慢性髓性白血病（cML）病程演进与细胞遗传学的关系。方法应用骨髓细胞短期培养法，对387例初诊CML患者行染色体G显带技术核型分析，结合ABL激酶区点突变检测分析细胞遗传学变化与CML病程演进的关系。结果间接荧光原位杂交（FISH）技术检测387例CML患者BCR—ABL融合基因阳性，其中Ph’CML占94．1％（364／387），Ph—CML占5．9％（23／387）；标准易位t（9；22）（q34；q11）320例（87．9％），变异易位5例（1．4％），初诊Ph’合并额外染色体异常（ACA）39例（10．7％）。合并ACA中“主要路径”异常22例（56．4％），“次要路径”异常15例（38．5％），-Y异常2例（5．1％）。23．4％（71／303）标准易位患者在TKI治疗中出现ACA，主要为染色体数目异常，此类患者疾病进展比例高（X2=168．21，P〈0．001）、更易合并点突变（x2=29．04，P〈0．001）。初诊CML慢性期合并ACA患者与标准易位患者相比，有较低的无事件生存（EFS）及无病生存（DFS）率（P值分别为0．037和0．003），但总生存（OS）率差异无统计学意义（P=0．209）。CML慢性期患者TKI治疗过程中出现ACA者与无ACA者相比，OS、EFS、DFS率均降低（P值均〈0．001）。进展期合并ACA患者长期生存率下降（P=0．086）。结论CML在病程演进中往往合并ACA，此类患者更易发生不良事件或疾病进展，在TKI治疗过程中规律、及时行染色体核型分析及点突变检测对疗效评估及预后判断具有重要意义。 |
|---|---|
| AbstractList | 目的 探讨酪氨酸激酶抑制剂(TKI)时代,慢性髓性白血病(CML)病程演进与细胞遗传学的关系.方法 应用骨髓细胞短期培养法,对387例初诊CML患者行染色体G显带技术核型分析,结合ABL激酶区点突变检测分析细胞遗传学变化与CML病程演进的关系.结果 间接荧光原位杂交(FISH)技术检测387例CML患者BCR-ABL融合基因阳性,其中Ph+ CML占94.1％(364/387),PhCML占5.9％(23/387);标准易位t(9;22) (q34;q11) 320例(87.9％),变异易位5例(1.4％),初诊Ph+合并额外染色体异常(ACA) 39例(10.7％).合并ACA中“主要路径”异常22例(56.4％),“次要路径”异常15例(38.5％),-Y异常2例(5.1％).23.4％(71/303)标准易位患者在TKI治疗中出现ACA,主要为染色体数目异常,此类患者疾病进展比例高(x2=168.21,P＜0.001)、更易合并点突变(x2=29.04,P＜0.001).初诊CML慢性期合并ACA患者与标准易位患者相比,有较低的无事件生存(EFS)及无病生存(DFS)率(P值分别为0.037和0.003),但总生存(OS)率差异无统计学意义(P=0.209).CML慢性期患者TKI治疗过程中出现ACA者与无ACA者相比,OS、EFS、DFS率均降低(P值均＜0.001).进展期合并ACA患者长期生存率下降(P=0.086).结论 CML在病程演进中往往合并ACA,此类患者更易发生不良事件或疾病进展,在TKI治疗过程中规律、及时行染色体核型分析及点突变检测对疗效评估及预后判断具有重要意义. 目的探讨酪氨酸激酶抑制剂（TKI）时代，慢性髓性白血病（cML）病程演进与细胞遗传学的关系。方法应用骨髓细胞短期培养法，对387例初诊CML患者行染色体G显带技术核型分析，结合ABL激酶区点突变检测分析细胞遗传学变化与CML病程演进的关系。结果间接荧光原位杂交（FISH）技术检测387例CML患者BCR—ABL融合基因阳性，其中Ph’CML占94．1％（364／387），Ph—CML占5．9％（23／387）；标准易位t（9；22）（q34；q11）320例（87．9％），变异易位5例（1．4％），初诊Ph’合并额外染色体异常（ACA）39例（10．7％）。合并ACA中“主要路径”异常22例（56．4％），“次要路径”异常15例（38．5％），-Y异常2例（5．1％）。23．4％（71／303）标准易位患者在TKI治疗中出现ACA，主要为染色体数目异常，此类患者疾病进展比例高（X2=168．21，P〈0．001）、更易合并点突变（x2=29．04，P〈0．001）。初诊CML慢性期合并ACA患者与标准易位患者相比，有较低的无事件生存（EFS）及无病生存（DFS）率（P值分别为0．037和0．003），但总生存（OS）率差异无统计学意义（P=0．209）。CML慢性期患者TKI治疗过程中出现ACA者与无ACA者相比，OS、EFS、DFS率均降低（P值均〈0．001）。进展期合并ACA患者长期生存率下降（P=0．086）。结论CML在病程演进中往往合并ACA，此类患者更易发生不良事件或疾病进展，在TKI治疗过程中规律、及时行染色体核型分析及点突变检测对疗效评估及预后判断具有重要意义。 |
| Abstract_FL | Objective To analyze the association of cytogenetic abnormalities with the prognosis of chronic myeloid leukemia (CML) patients in tyrosine kinase inhibitors (TKI) era.Methods Karyotype analysis of chromosome G-banding was carried out in 387 newly diagnosed CML patients by short-term culture of bone marrow cells.The correlation of cytogenetic abnormalities and CML progression was explored in combination with ABL tyrosine point mutations.Result Of 387 patients with positive BCR-ABL fusion gene assayed by fluorescence in situ hybridization (FISH) technique,94.1％ (364/387)patients were Ph positive and 5.9％ (23/387) Ph negative;320 patients (87.9％) had a translocation t(9;22) (q34;q 11) and 5 (1.4％) a variant translocation t (v;22).Additional cytogenetic aberrations (ACA) at diagnosis were found in 10.7％ (39/387) Ph+ patients,major route ACA in 22 (56.4 ％) cases and minor route ACA in 15 (38.5％) cases and 2 patients (5.1％) lacked the Y chromosome (-Y);23.4％(71/303) patients occurred ACA during TKI treatment and the most frequent abnormalities were abnormal chromosome numbersd,which were likely associated with high proportion of disease progression (x2=168.21,P＜0.001) and ABL tyrosine point mutations (χ2=29.04,P＜0.001).Newly diagnosed CML-CP patients with t (9;22) (q34;ql 1) had a longer event-free survival (EFS) and disease-free survival (DFS) rates than that of patients with ACA (P=0.037;P=0.003),while the overall survival (OS) had no significant differences (P=0.209).As for CML-CP patients that occurred ACA during TKI therapy would have a marked low OS,EFS and DFS (all P ＜ 0.001) compared with no ACA occurred patients.Survival of advanced patients that occurred ACA were dramatically reduced.Conclusion ACA often emerged during the disease progress in CML patients,regular and timely detection of chromosomes karyotype and ABL tyrosine point mutations during TKI treatment was important for therapeutic evaluation,progress and prognosis of CML. |
| Author | 潘成云 许娜 何柏林 曹睿 廖立斌 阴常欣 蓝扬清 陆紫媛 黄继贤 孙竞 冯茹 刘启发 刘晓力 |
| AuthorAffiliation | 南方医科大学南方医院血液科,广州510515 |
| AuthorAffiliation_xml | – name: 南方医科大学南方医院血液科, 广州,510515 |
| Author_xml | – sequence: 1 fullname: 潘成云 许娜 何柏林 曹睿 廖立斌 阴常欣 蓝扬清 陆紫媛 黄继贤 孙竞 冯茹 刘启发 刘晓力 |
| BookMark | eNo9jztLA0EUhaeIYKL-CQux2fXOY2c3lUjwBQGb9GEymc0DM9EsYmIVMRHUwsIiKCI-QAVJpxBf_2azm_wLRyI253LO_biXk0IJXdcKoUUMNnU5LMmasKt2JQi0DcShFnGJaxPArrE2AE-g5H8-jVJBUAVgZs-SaDn-PB4d3YwPe-HX7bD_GD20o7ez4fVz1L2P2k_jlwuj8eX36K4d97rhoB9fdcLB6_DjNOqch-8ns2jKF9uBmvubMyi3tprLbFjZrfXNzErWko7HLcYKaVzwiVTMc0BwVRDYx8qTkjDqM8k4FLnHuABKFXcoUxILSh1ZTAMpKkpn0MLk7L7QvtClfLW-19DmYf6g3Gw1f7sCMU0NOD8BZbmuS7sVg-40KjXRaOW5iwkG6rj0B9FjcH4 |
| ContentType | Journal Article |
| Copyright | Copyright © Wanfang Data Co. Ltd. All Rights Reserved. |
| Copyright_xml | – notice: Copyright © Wanfang Data Co. Ltd. All Rights Reserved. |
| DBID | 2RA 92L CQIGP W91 ~WA 2B. 4A8 92I 93N PSX TCJ |
| DOI | 10.3760/cma.j.issn.0253-2727.2017.02.006 |
| DatabaseName | 维普_期刊 中文科技期刊数据库-CALIS站点 维普中文期刊数据库 中文科技期刊数据库-医药卫生 中文科技期刊数据库- 镜像站点 Wanfang Data Journals - Hong Kong WANFANG Data Centre Wanfang Data Journals 万方数据期刊 - 香港版 China Online Journals (COJ) China Online Journals (COJ) |
| DatabaseTitleList | |
| DeliveryMethod | fulltext_linktorsrc |
| DocumentTitleAlternate | Clinical significance of cytogenetic monitoring in chronic myeloid leukemia |
| DocumentTitle_FL | Clinical significance of cytogenetic monitoring in chronic myeloid leukemia |
| EndPage | 117 |
| ExternalDocumentID | zhxyx201702006 671210357 |
| GrantInformation_xml | – fundername: 广东省医学科研基金; Guangdong Province Medical Research Foundation funderid: (2015124162336427); (2015124162336427) |
| GroupedDBID | --- -05 2B. 2C~ 2RA 92F 92I 92L ACGFS ALMA_UNASSIGNED_HOLDINGS CCEZO CIEJG CQIGP CW9 F5P OK1 RPM TCJ TGQ U1G U5O W91 ~WA 4A8 93N ABJNI PSX |
| ID | FETCH-LOGICAL-c586-44b91bf2ce4850a6eba1f1e8cc243f4c460d6846a033e6534ec1a335cd902de33 |
| ISSN | 0253-2727 |
| IngestDate | Thu May 29 04:00:17 EDT 2025 Wed Feb 14 10:18:50 EST 2024 |
| IsPeerReviewed | false |
| IsScholarly | true |
| Issue | 2 |
| Keywords | Leukemia,myelogenous,chronic,BCR-ABL positive Additional cytogenetic aberrations 点突变 白血病,髓系,慢性,BCR-ABL阳性 费城染色体 Point mutations 额外染色体异常 Philadelphia chromosome |
| Language | Chinese |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c586-44b91bf2ce4850a6eba1f1e8cc243f4c460d6846a033e6534ec1a335cd902de33 |
| Notes | Leukemia, myelogenous, chronic, BCR-ABL positive; Philadelphia chromosome;Additional cytogenetic aberrations; Point mutations Objective To analyze the association of cytogenetic abnormalities with the prognosis of chronic myeloid leukemia （CML） patients in tyrosine kinase inhibitors （TKI） era. Methods Karyotype analysis of chromosome G-banding was carried out in 387 newly diagnosed CML patients by short-term culture of bone marrow cells. The correlation of cytogenetic abnormalities and CML progression was explored in combination with ABL tyrosine point mutations. Result Of 387 patients with positive BCR- ABL fusion gene assayed by fluorescence in situ hybridization （FISH） technique, 94.1% （364/387） patients were Ph positive and 5.9% （23/387） Ph negative; 320 patients （87.9%） had a translocation t（9; 22 ） （ q34;q 11 ） and 5 （ 1.4% ） a variant translocation t （v;22）. Additional cytogenetic aberrations （ACA） at diagnosis were found in 10.7% （39/387） Ph＋ patients, major route ACA in 22 （56.4 %） cases and minor rou |
| PageCount | 6 |
| ParticipantIDs | wanfang_journals_zhxyx201702006 chongqing_primary_671210357 |
| PublicationCentury | 2000 |
| PublicationDate | 2017 |
| PublicationDateYYYYMMDD | 2017-01-01 |
| PublicationDate_xml | – year: 2017 text: 2017 |
| PublicationDecade | 2010 |
| PublicationTitle | 中华血液学杂志 |
| PublicationTitleAlternate | Chinese Journal of Hematology |
| PublicationTitle_FL | Chinese Journal of Hematology |
| PublicationYear | 2017 |
| Publisher | 南方医科大学南方医院血液科, 广州,510515 |
| Publisher_xml | – name: 南方医科大学南方医院血液科, 广州,510515 |
| SSID | ssj0042014 ssib051368330 ssib017477332 ssib001103535 ssib058574913 |
| Score | 2.1189382 |
| Snippet | 目的探讨酪氨酸激酶抑制剂（TKI）时代，慢性髓性白血病（cML）病程演进与细胞遗传学的关系。方法应用骨髓细胞短期培养法，对387例初诊CML患者行染色体G显带技术核型分析，... 目的 探讨酪氨酸激酶抑制剂(TKI)时代,慢性髓性白血病(CML)病程演进与细胞遗传学的关系.方法 应用骨髓细胞短期培养法,对387例初诊CML患者行染色体G显带技术核型分析,结... |
| SourceID | wanfang chongqing |
| SourceType | Aggregation Database Publisher |
| StartPage | 112 |
| SubjectTerms | BCR—ABL阳性 慢性 点突变 白血病 费城染色体 额外染色体异常 髓系 |
| Title | 细胞遗传学检测在慢性髓性白血病中的临床意义 |
| URI | http://lib.cqvip.com/qk/93752X/201702/671210357.html https://d.wanfangdata.com.cn/periodical/zhxyx201702006 |
| Volume | 38 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAQN databaseName: PubMed Central issn: 0253-2727 databaseCode: RPM dateStart: 20150101 customDbUrl: isFulltext: true dateEnd: 99991231 titleUrlDefault: https://www.ncbi.nlm.nih.gov/pmc/ omitProxy: true ssIdentifier: ssj0042014 providerName: National Library of Medicine |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3Na9RAFA9tBfEiioq1fvTggLCkJpnvkyS7WYoHTxV6W5LspEVw60cLtaeKraAePHgoiogfoIL0plC__gv_hO1u-1_43iRdYylWhSVM3sy835v32-y8DDNvHed823DJUsVcz_jcZTTx3dQLMldkqZ_lCc8DY7N9XhGTV9nlaT49NPyjsmtpYT6dyJb2PFfyP6yCDHjFU7L_wOxAKQigDPzCFRiG619xTGJJoogoQWJFFCU6JrGG2JBoSWJGojoJPRJzEjZICG0ECSnubIBCxImKsEpDG4USBc0CW_BIKFFPGBFNKxJJtCZRA7FC3-qRCAQdEUshCkpColgpiRhCRCAJrR6IW5u2CozU1bC4ogEMaxAVV1DAWvgEvw1EQxsriZpED6ZS27ZBdDEgRbRnFYdE-zWrMEYU1AN19ZqthObcamxa4wQ6UcuaLUVoKY6pATg1Cwc-ESgC56ADBd4qVKURthywsjDgbnAutcjgSFCCVmmUop3AGC_6acugxN6hJSUEiyNbh-yykmbkwEKErFY6Q-vSFh1bEegJm_bLUAfTC5Gy_uDoDKzjOEzrj0GdQD1INUeidFRdCSqOvJZTRcCpG8giy8LOvEZV5fkNKpOUX25cN-Wd3Gsqxc1S8P3PricT1yzIxAAEN0TKItPtrizmNi4SEpPSUS6HnQMBrpLtWkPzsfJXkA6vxFJWkuhxnwpltzwX8RQDNJsEbgf-oHOhtO_iftZhwpTZuc7MTQgD7am8Tp50ZioB5NQR53D55jceFo_xUWdoafaYc6n_9f7WvRfbd9e6315urr_tvVnufXq0-fx9b_V1b_nd9ocncO0__b71arm_ttrdWO8_W-lufNz88rC38rj7-cFxZ6oZT9Un3fI_TdyMK-Eylmo_zYPMMMW9RJg08XPfqCwLGM1ZxoTXFvBKkHiUGsEpM5mfUMqztvaCtqH0hDPSmeuYk8641_bbLM2Fl2eK0ZQngmWKJ74xSrcDaUadscHYWzeK1DWtATejzrnSG63yB-12a2l28c4ies_DdcZTf-w_5hzClsVi5GlnZP7WgjkD4fl8etay_RP2S6Wv |
| linkProvider | National Library of Medicine |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=%E7%BB%86%E8%83%9E%E9%81%97%E4%BC%A0%E5%AD%A6%E6%A3%80%E6%B5%8B%E5%9C%A8%E6%85%A2%E6%80%A7%E9%AB%93%E6%80%A7%E7%99%BD%E8%A1%80%E7%97%85%E4%B8%AD%E7%9A%84%E4%B8%B4%E5%BA%8A%E6%84%8F%E4%B9%89&rft.jtitle=%E4%B8%AD%E5%8D%8E%E8%A1%80%E6%B6%B2%E5%AD%A6%E6%9D%82%E5%BF%97&rft.au=%E6%BD%98%E6%88%90%E4%BA%91+%E8%AE%B8%E5%A8%9C+%E4%BD%95%E6%9F%8F%E6%9E%97+%E6%9B%B9%E7%9D%BF+%E5%BB%96%E7%AB%8B%E6%96%8C+%E9%98%B4%E5%B8%B8%E6%AC%A3+%E8%93%9D%E6%89%AC%E6%B8%85+%E9%99%86%E7%B4%AB%E5%AA%9B+%E9%BB%84%E7%BB%A7%E8%B4%A4+%E5%AD%99%E7%AB%9E+%E5%86%AF%E8%8C%B9+%E5%88%98%E5%90%AF%E5%8F%91+%E5%88%98%E6%99%93%E5%8A%9B&rft.date=2017&rft.issn=0253-2727&rft.volume=38&rft.issue=2&rft.spage=112&rft.epage=117&rft_id=info:doi/10.3760%2Fcma.j.issn.0253-2727.2017.02.006&rft.externalDocID=671210357 |
| thumbnail_s | http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=http%3A%2F%2Fimage.cqvip.com%2Fvip1000%2Fqk%2F93752X%2F93752X.jpg http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=http%3A%2F%2Fwww.wanfangdata.com.cn%2Fimages%2FPeriodicalImages%2Fzhxyx%2Fzhxyx.jpg |