伴有21号染色体染色体内扩增的b细胞急性淋巴细胞白血病的细胞遗传学特征

IF 1.8 Q3 HEMATOLOGY

Hematology, Transfusion and Cell Therapy Pub Date : 2025-07-01 DOI:10.1016/j.htct.2025.103881

Jiantuo Liu, Hongrui Li, Li Jiang, Ping Zhang, Shanlin Zheng, Xuekui Qiu, Haiqin Zhang

{"title":"伴有21号染色体染色体内扩增的b细胞急性淋巴细胞白血病的细胞遗传学特征","authors":"Jiantuo Liu, Hongrui Li, Li Jiang, Ping Zhang, Shanlin Zheng, Xuekui Qiu, Haiqin Zhang","doi":"10.1016/j.htct.2025.103881","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the cytogenetic features and prognosis of B-ALL with iAMP21.</div></div><div><h3>Methodology</h3><div>Retrospective analysis of data from 15 children diagnosed with B-ALL and iAMP21 seen in the Department of Hematology, Union Hospital, Tongji Medical College HUST from 2021 to 2024. Screened patients ranged in age from 1 month to 18-years. All were diagnosed with B-ALL using standard morphological and immunophenotypic criteria. Patients in this study were classified as iAMP21 using the criteria of 5 or more RUNX1 signals per cell and by a ratio of RUNX1 to tel 21q signals exceeding 1.</div></div><div><h3>Results</h3><div>In this study, 15 patients demonstrated 5 or more RUNX1 signals per interphase nucleus. Compared to RUNX1, all cases showed fewer subtelomeric signals in interphase cells, ranging from 1 to 5. The accurate interphase distinction of iAMP21 was made by calculating the ratio of RUNX1 to subtelomeric signals; the minimum and maximum values were 1.67 and more than 10, respectively. Metaphase FISH data were recorded if available. Of the cases, 5 of 15 demonstrated 3 or more extra copies of RUNX1 on a single abnormal chromosome 21 with the morphology of mar,r(21)c and add(21)c. Using MLPA, 4 of 15 cases showed gene deletion, including IKZF1, CDKN2A/B, ETV6, BTG1, and RB1. All cases received chemotherapy according to CCCG-ALL-2020. Induction regimens included a combination of vincristine, prednisone, and pegaspargase with daunorubicin. High-Dose Methotrexate (HD-MTX) and 6-Mercaptopurine (6-MP) were incorporated into consolidation regimens. Maintenance regimens were based on a backbone of daily 6-MP and weekly methotrexate with periodic vincristine and prednisone. 14 achieved remissions, and MRD remained negative; 1 did not achieve remission, and MRD was > 0.01%.</div></div><div><h3>Conclusion</h3><div>iAMP21 is a primary cytogenetic abnormality located in the same region of amplification as the RUNX1 gene and a common region of deletion at the telomere. Some patients display other genetic abnormalities in addition to iAMP21. iAMP21 is associated with inferior outcomes, and patients with this abnormality require more intensive therapy.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103881"},"PeriodicalIF":1.8000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"CYTOGENETIC FEATURES OF B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA WITH INTRACHROMOSOMAL AMPLIFICATION OF CHROMOSOME 21\",\"authors\":\"Jiantuo Liu, Hongrui Li, Li Jiang, Ping Zhang, Shanlin Zheng, Xuekui Qiu, Haiqin Zhang\",\"doi\":\"10.1016/j.htct.2025.103881\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><div>To investigate the cytogenetic features and prognosis of B-ALL with iAMP21.</div></div><div><h3>Methodology</h3><div>Retrospective analysis of data from 15 children diagnosed with B-ALL and iAMP21 seen in the Department of Hematology, Union Hospital, Tongji Medical College HUST from 2021 to 2024. Screened patients ranged in age from 1 month to 18-years. All were diagnosed with B-ALL using standard morphological and immunophenotypic criteria. Patients in this study were classified as iAMP21 using the criteria of 5 or more RUNX1 signals per cell and by a ratio of RUNX1 to tel 21q signals exceeding 1.</div></div><div><h3>Results</h3><div>In this study, 15 patients demonstrated 5 or more RUNX1 signals per interphase nucleus. Compared to RUNX1, all cases showed fewer subtelomeric signals in interphase cells, ranging from 1 to 5. The accurate interphase distinction of iAMP21 was made by calculating the ratio of RUNX1 to subtelomeric signals; the minimum and maximum values were 1.67 and more than 10, respectively. Metaphase FISH data were recorded if available. Of the cases, 5 of 15 demonstrated 3 or more extra copies of RUNX1 on a single abnormal chromosome 21 with the morphology of mar,r(21)c and add(21)c. Using MLPA, 4 of 15 cases showed gene deletion, including IKZF1, CDKN2A/B, ETV6, BTG1, and RB1. All cases received chemotherapy according to CCCG-ALL-2020. Induction regimens included a combination of vincristine, prednisone, and pegaspargase with daunorubicin. High-Dose Methotrexate (HD-MTX) and 6-Mercaptopurine (6-MP) were incorporated into consolidation regimens. Maintenance regimens were based on a backbone of daily 6-MP and weekly methotrexate with periodic vincristine and prednisone. 14 achieved remissions, and MRD remained negative; 1 did not achieve remission, and MRD was > 0.01%.</div></div><div><h3>Conclusion</h3><div>iAMP21 is a primary cytogenetic abnormality located in the same region of amplification as the RUNX1 gene and a common region of deletion at the telomere. Some patients display other genetic abnormalities in addition to iAMP21. iAMP21 is associated with inferior outcomes, and patients with this abnormality require more intensive therapy.</div></div>\",\"PeriodicalId\":12958,\"journal\":{\"name\":\"Hematology, Transfusion and Cell Therapy\",\"volume\":\"47 \",\"pages\":\"Article 103881\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology, Transfusion and Cell Therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S253113792500149X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology, Transfusion and Cell Therapy","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S253113792500149X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

目的探讨B-ALL的细胞遗传学特征及预后。方法回顾性分析同济医学院协和医院血液科2021 - 2024年诊断为B-ALL和iAMP21的15例患儿的资料。筛选的患者年龄从1个月到18岁不等。所有患者均采用标准形态学和免疫表型标准诊断为B-ALL。本研究中的患者按照每个细胞有5个或更多RUNX1信号的标准，按照RUNX1与超过1的21q信号的比值，被分类为iAMP21。结果15例患者每个间期核出现5个或更多RUNX1信号。与RUNX1相比，所有病例间期细胞的亚端粒信号均较少，范围为1 ~ 5。通过计算RUNX1与亚端粒信号的比值，对iAMP21进行了准确的间期区分；最小值为1.67，最大值大于10。如果有的话，记录中期FISH数据。在这些病例中，15例中有5例在一条形态为mar、r(21)c和add(21)c的异常染色体21上表现出3个或更多的RUNX1拷贝。MLPA检测显示，15例患者中有4例出现基因缺失，包括IKZF1、CDKN2A/B、ETV6、BTG1和RB1。所有病例均按照CCCG-ALL-2020标准进行化疗。诱导方案包括长春新碱、强的松和pegaspargase联合柔红霉素。大剂量甲氨蝶呤（HD-MTX）和6-巯基嘌呤（6-MP）被纳入巩固方案。维持方案以每日6-MP和每周甲氨蝶呤为基础，定期使用长春新碱和强的松。14例获得缓解，MRD仍为负值；1例未达到缓解，MRD为>；0.01%。结论iamp21是一种原发性细胞遗传学异常，与RUNX1基因位于相同的扩增区和端粒缺失区。除了iAMP21，一些患者还表现出其他基因异常。iAMP21与预后较差有关，这种异常的患者需要更强化的治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

CYTOGENETIC FEATURES OF B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA WITH INTRACHROMOSOMAL AMPLIFICATION OF CHROMOSOME 21

Objective

To investigate the cytogenetic features and prognosis of B-ALL with iAMP21.

Methodology

Retrospective analysis of data from 15 children diagnosed with B-ALL and iAMP21 seen in the Department of Hematology, Union Hospital, Tongji Medical College HUST from 2021 to 2024. Screened patients ranged in age from 1 month to 18-years. All were diagnosed with B-ALL using standard morphological and immunophenotypic criteria. Patients in this study were classified as iAMP21 using the criteria of 5 or more RUNX1 signals per cell and by a ratio of RUNX1 to tel 21q signals exceeding 1.

Results

In this study, 15 patients demonstrated 5 or more RUNX1 signals per interphase nucleus. Compared to RUNX1, all cases showed fewer subtelomeric signals in interphase cells, ranging from 1 to 5. The accurate interphase distinction of iAMP21 was made by calculating the ratio of RUNX1 to subtelomeric signals; the minimum and maximum values were 1.67 and more than 10, respectively. Metaphase FISH data were recorded if available. Of the cases, 5 of 15 demonstrated 3 or more extra copies of RUNX1 on a single abnormal chromosome 21 with the morphology of mar,r(21)c and add(21)c. Using MLPA, 4 of 15 cases showed gene deletion, including IKZF1, CDKN2A/B, ETV6, BTG1, and RB1. All cases received chemotherapy according to CCCG-ALL-2020. Induction regimens included a combination of vincristine, prednisone, and pegaspargase with daunorubicin. High-Dose Methotrexate (HD-MTX) and 6-Mercaptopurine (6-MP) were incorporated into consolidation regimens. Maintenance regimens were based on a backbone of daily 6-MP and weekly methotrexate with periodic vincristine and prednisone. 14 achieved remissions, and MRD remained negative; 1 did not achieve remission, and MRD was > 0.01%.

Conclusion

iAMP21 is a primary cytogenetic abnormality located in the same region of amplification as the RUNX1 gene and a common region of deletion at the telomere. Some patients display other genetic abnormalities in addition to iAMP21. iAMP21 is associated with inferior outcomes, and patients with this abnormality require more intensive therapy.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊