Mutation analysis of isocitrate dehydrogenase in acute lymphoblastic leukemia.
Mutation analysis of isocitrate dehydrogenase in acute lymphoblastic leukemia.
复制标题
急性淋巴细胞白血病异柠檬酸脱氢酶突变分析。
DOI：
10.1089/gtmb.2011.0323
复制
发表时间：
2012-08
影响因子：
1.4
通讯作者：
Min Wang
中科院分区：
文献类型：
--
作者：
Jianxiang Wang;HUI WEI;Kejing Tang;Dong Lin;Cuiping Zhang;Yingchang Mi;Lin Wang;Cuicui Wang;Min Wang
背景
异柠檬酸脱氢酶1/2（IDH 1/2）的精氨酸132位突变是急性髓细胞白血病（AML）的复发性基因改变。随后，这种突变也被发现在各种其他血液恶性肿瘤，包括骨髓增生异常综合征，骨髓增生性疾病，和非霍奇金淋巴瘤。到目前为止，只有少数病例被确定为急性淋巴细胞白血病（ALL）。为研究急性淋巴细胞白血病（ALL）患者IDH的状况，我们分析了54例成人和34例儿童ALL患者的IDH 1/2基因。
结果
确定了3例成人病例和无儿童病例具有异柠檬酸脱氢酶1（IDH 1）突变。在总共88个样本中未发现异柠檬酸脱氢酶2（IDH 2）突变。成人ALL中IDH 1突变的频率为5.5%。在3例IDH 1突变患者中，2例核型正常，并表达髓系标志物。所有三名IDH 1突变患者均在6个月内复发或死亡。
结论
结果表明，IDH 1 R132突变可能是ALL中的一种复发性基因改变;携带该突变的患者有异常表达髓系抗原的趋势，该突变可能意味着令人沮丧的结果。
BACKGROUND
Mutations at arginine 132 of isocitrate dehydrogenase 1/2 (IDH1/2) have recently been demonstrated to be recurrent gene alterations in acute myeloid leukemia (AML). Subsequently, this mutation was also found in a variety of other hematologic malignancies, including myelodysplastic syndromes, myeloproliferative diseases, and non-Hodgkin lymphoma. Only a few cases were so far identified in acute lymphoblastic leukemia (ALL). To study the IDH status in ALL patients, we analyzed 54 adult and 34 pediatric ALL samples' IDH1/2 gene.
RESULTS
Three adult cases and no pediatric case with an isocitrate dehydrogenase 1 (IDH1) mutation were identified. No isocitrate dehydrogenase 2 (IDH2) mutation was identified in the total of 88 samples. The frequency of the IDH1 mutation in adult ALL was 5.5%. Among the three IDH1-mutated patients, two had normal karyotype and expressed the myeloid lineage markers. All three patients with an IDH1 mutation relapsed or died within 6 months.
CONCLUSIONS
The results suggested that the IDH1 R132 mutation might be a recurrent gene alteration in ALL; patients carrying the mutation have a trend to aberrantly express myeloid antigen and the mutation may imply a dismal outcome.
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影响因子：
20.3
作者：
Vardiman, James W.;Thiele, Juergen;Bloomfield, Clara D.
通讯作者：
Bloomfield, Clara D.
影响因子：
50.3
作者：
Ward PS;Patel J;Wise DR;Abdel-Wahab O;Bennett BD;Coller HA;Cross JR;Fantin VR;Hedvat CV;Perl AE;Rabinowitz JD;Carroll M;Su SM;Sharp KA;Levine RL;Thompson CB
通讯作者：
Thompson CB
DOI：
10.1097/pai.0b013e31822c132e
发表时间：
2012-01
影响因子：
1.6
作者：
R. Byers;J. Hornick;E. Tholouli;J. Kutok;Scott J. Rodig
通讯作者：
R. Byers;J. Hornick;E. Tholouli;J. Kutok;Scott J. Rodig
影响因子：
6.5
作者：
S. M. Noordermeer;E. Tönnissen;Inge Vissers;A. V. D. van der Heijden;L. T. van de Locht;P. Deutz‐Terlouw;E. Marijt;J. Jansen;B. A. van der Reijden
通讯作者：
S. M. Noordermeer;E. Tönnissen;Inge Vissers;A. V. D. van der Heijden;L. T. van de Locht;P. Deutz‐Terlouw;E. Marijt;J. Jansen;B. A. van der Reijden
影响因子：
3.4
作者：
Kölker, S;Pawlak, V;Köhr, G
通讯作者：
Köhr, G