O V Zotova, A S Lukianova, M O Valchuk, Yu S Karol, O O Shalay, V L Novak, V E Loginsky
{"title":"11q23/MLL重排在成人急性白血病中的作用","authors":"O V Zotova, A S Lukianova, M O Valchuk, Yu S Karol, O O Shalay, V L Novak, V E Loginsky","doi":"10.32471/exp-oncology.2312-8852.vol-43-no-3.16495","DOIUrl":null,"url":null,"abstract":"<p><strong>Aim: </strong>To detect the frequency, diagnostic and prognostic significance of 11q23/MLL rearrangements and to determine the chromosomes that are most frequently involved in 11q23/MLL abnormalities in adult acute leukemia (AL).</p><p><strong>Materials and methods: </strong>Cytogenetic investigations of bone marrow and/or peripheral blood cells from 140 patients with acute myeloid leukemia (AML) and 57 patients with acute lymphoblastic leukemia (ALL) were performed. The methods of conventional cytogenetics (GTG-banding) and fluorescence in situ hybridization were used.</p><p><strong>Results: </strong>Chromosomal abnormalities in leukemia cells were found by conventional cytogenetic methods in 80 (57%) and 37 (65%) adult patients with AML and ALL, respectively. 11q23/MLL rearrangements were found in 7 (5%) and 8 (14%) patients with AML and ALL, respectively. Among them, 8 (53.4%) patients had translocations, 2 (13.3%) - had deletions and 5 (33.3%) patients had trisomies or tetrasomies of chromosome 11. With respect to the distribution of partner chromosomes involved in 11q23/MLL translocations chromosome 4 was found to participate in 3 (37.5%) cases of 11q23/MLL translocations, 9 - in 2 (25%) cases and chromosomes 10, 14 and non-identified chromosome were involved in 1 (12.5%) case each. Nine patients (60%), besides abnormal ones, had 9-86% normal metaphases in their karyotypes. Of 15 patients with 11q23/MLL rearrangements, 5 (33%) patients had only 11q23/MLL rearrangements, whereas other 10 (67%) - had additional cytogenetic abnormalities, besides 11q23/MLL rearrangements.</p><p><strong>Conclusions: </strong>Chromosomal abnormalities of various kinds were found in 57% and 65% adult patients with AML and ALL, respectively. The frequency of 11q23/MLL rearrangements in patients with AML and ALL was 5% and 14%, respectively. Since AL patients with 11q23/MLL rearrangements are attributed to cytogenetic categories of AL with a poor or intermediate risk prognosis, cytogenetic methods should be included in the standard examination of AL patients for diagnosis, prognosis and selection of the optimal treatment strategy.</p>","PeriodicalId":12287,"journal":{"name":"Experimental oncology","volume":"43 3","pages":"229-233"},"PeriodicalIF":0.0000,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"11q23/MLL rearrangements in adult acute leukemia.\",\"authors\":\"O V Zotova, A S Lukianova, M O Valchuk, Yu S Karol, O O Shalay, V L Novak, V E Loginsky\",\"doi\":\"10.32471/exp-oncology.2312-8852.vol-43-no-3.16495\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aim: </strong>To detect the frequency, diagnostic and prognostic significance of 11q23/MLL rearrangements and to determine the chromosomes that are most frequently involved in 11q23/MLL abnormalities in adult acute leukemia (AL).</p><p><strong>Materials and methods: </strong>Cytogenetic investigations of bone marrow and/or peripheral blood cells from 140 patients with acute myeloid leukemia (AML) and 57 patients with acute lymphoblastic leukemia (ALL) were performed. The methods of conventional cytogenetics (GTG-banding) and fluorescence in situ hybridization were used.</p><p><strong>Results: </strong>Chromosomal abnormalities in leukemia cells were found by conventional cytogenetic methods in 80 (57%) and 37 (65%) adult patients with AML and ALL, respectively. 11q23/MLL rearrangements were found in 7 (5%) and 8 (14%) patients with AML and ALL, respectively. Among them, 8 (53.4%) patients had translocations, 2 (13.3%) - had deletions and 5 (33.3%) patients had trisomies or tetrasomies of chromosome 11. With respect to the distribution of partner chromosomes involved in 11q23/MLL translocations chromosome 4 was found to participate in 3 (37.5%) cases of 11q23/MLL translocations, 9 - in 2 (25%) cases and chromosomes 10, 14 and non-identified chromosome were involved in 1 (12.5%) case each. Nine patients (60%), besides abnormal ones, had 9-86% normal metaphases in their karyotypes. Of 15 patients with 11q23/MLL rearrangements, 5 (33%) patients had only 11q23/MLL rearrangements, whereas other 10 (67%) - had additional cytogenetic abnormalities, besides 11q23/MLL rearrangements.</p><p><strong>Conclusions: </strong>Chromosomal abnormalities of various kinds were found in 57% and 65% adult patients with AML and ALL, respectively. The frequency of 11q23/MLL rearrangements in patients with AML and ALL was 5% and 14%, respectively. Since AL patients with 11q23/MLL rearrangements are attributed to cytogenetic categories of AL with a poor or intermediate risk prognosis, cytogenetic methods should be included in the standard examination of AL patients for diagnosis, prognosis and selection of the optimal treatment strategy.</p>\",\"PeriodicalId\":12287,\"journal\":{\"name\":\"Experimental oncology\",\"volume\":\"43 3\",\"pages\":\"229-233\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Experimental oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32471/exp-oncology.2312-8852.vol-43-no-3.16495\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Experimental oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32471/exp-oncology.2312-8852.vol-43-no-3.16495","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 4
摘要
目的:检测成人急性白血病(AL) 11q23/MLL重排的频率、诊断及预后意义，确定11q23/MLL异常最常涉及的染色体。材料和方法:对140例急性髓性白血病(AML)和57例急性淋巴母细胞白血病(ALL)患者的骨髓和/或外周血细胞进行细胞遗传学研究。采用常规细胞遗传学(gtg -带状)和荧光原位杂交方法。结果:常规细胞遗传学方法在80例(57%)AML和37例(65%)ALL成人患者中分别发现白血病细胞染色体异常。11q23/MLL重排分别在7例(5%)和8例(14%)AML和ALL患者中发现。其中易位8例(53.4%)，缺失2例(13.3%)，11号染色体三体或四体5例(33.3%)。11q23/MLL易位的伴侣染色体分布中，4号染色体参与3例(37.5%)，9 - in 2例(25%)，10、14号染色体和未鉴定染色体各参与1例(12.5%)。9例(60%)患者核型中期除异常外，其余9 ~ 86%为正常。在15例11q23/MLL重排患者中，5例(33%)患者仅11q23/MLL重排，而其他10例(67%)患者除了11q23/MLL重排外还存在其他细胞遗传学异常。结论:急性髓性白血病(AML)和急性淋巴细胞白血病(ALL)的成人染色体异常发生率分别为57%和65%。11q23/MLL重排在AML和ALL患者中的频率分别为5%和14%。由于11q23/MLL重排AL患者属于预后较差或中危AL的细胞遗传学类别，因此应将细胞遗传学方法纳入AL患者的标准检查，以进行诊断、预后和选择最佳治疗策略。
Aim: To detect the frequency, diagnostic and prognostic significance of 11q23/MLL rearrangements and to determine the chromosomes that are most frequently involved in 11q23/MLL abnormalities in adult acute leukemia (AL).
Materials and methods: Cytogenetic investigations of bone marrow and/or peripheral blood cells from 140 patients with acute myeloid leukemia (AML) and 57 patients with acute lymphoblastic leukemia (ALL) were performed. The methods of conventional cytogenetics (GTG-banding) and fluorescence in situ hybridization were used.
Results: Chromosomal abnormalities in leukemia cells were found by conventional cytogenetic methods in 80 (57%) and 37 (65%) adult patients with AML and ALL, respectively. 11q23/MLL rearrangements were found in 7 (5%) and 8 (14%) patients with AML and ALL, respectively. Among them, 8 (53.4%) patients had translocations, 2 (13.3%) - had deletions and 5 (33.3%) patients had trisomies or tetrasomies of chromosome 11. With respect to the distribution of partner chromosomes involved in 11q23/MLL translocations chromosome 4 was found to participate in 3 (37.5%) cases of 11q23/MLL translocations, 9 - in 2 (25%) cases and chromosomes 10, 14 and non-identified chromosome were involved in 1 (12.5%) case each. Nine patients (60%), besides abnormal ones, had 9-86% normal metaphases in their karyotypes. Of 15 patients with 11q23/MLL rearrangements, 5 (33%) patients had only 11q23/MLL rearrangements, whereas other 10 (67%) - had additional cytogenetic abnormalities, besides 11q23/MLL rearrangements.
Conclusions: Chromosomal abnormalities of various kinds were found in 57% and 65% adult patients with AML and ALL, respectively. The frequency of 11q23/MLL rearrangements in patients with AML and ALL was 5% and 14%, respectively. Since AL patients with 11q23/MLL rearrangements are attributed to cytogenetic categories of AL with a poor or intermediate risk prognosis, cytogenetic methods should be included in the standard examination of AL patients for diagnosis, prognosis and selection of the optimal treatment strategy.
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The Experimental Oncology is an English-language journal that publishes review articles, original contributions, short communications, case reports and technical advances presenting new data in the field of experimental and fundamental oncology. Manuscripts should be written in English, contain original work, which has not been published or submitted for publication elsewhere. It also implies the transfer of the Copyright from the author to “Experimental Oncology”. No part of journal publications may be reproduced, stored in a retrieval system or transmitted in any form or by any means without the prior permission of the publisher.
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