首页> 美国卫生研究院文献>Case Reports in Genetics >Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

【2h】

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

机译：B细胞前体ALL的der（21）t（12; 21）的额外副本加上dic（12; 18）导致的ETV6基因缺失结果较差

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 and ETV6 gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. Molecular cytogenetic studies revealed two extra copies of the der(21) t(12;21), trisomy 10 and deletion of the second ETV6 gene due to the dic(12;18). These findings show the great importance of molecular cytogenetic studies to clarify complex karyotypes, to define prognostic, to carry out risk group stratification and to support correctly disease treatment in childhood acute lymphoblastic leukemia.

机译：急性淋巴细胞白血病（ALL），CD10 + B细胞前体，是3至6岁儿童ALL的最常见类型。 t（12; 21）（p13; q22）发生在25％的B细胞前体ALL病例中，这种情况在24个月以下的儿童中很少见，并且与预后良好相关。 ALL CD10 +中的一些复发病例和不良预后与t（12; 21）相关，因为额外的畸变是21号染色体的额外拷贝和ETV6基因的丢失。该报告描述了一个15个月大的女孩的情况，该女孩显示出染色体核型，并在12p染色体上加上了10号三体和21号染色体的四体。分子细胞遗传学研究显示，der（21）t（12; 21）的两个额外副本），三体性10和由于dic（12; 18）导致第二个ETV6基因缺失。这些发现表明，分子细胞遗传学研究对于阐明复杂的核型，定义预后，进行危险人群分层以及正确支持儿童急性淋巴细胞白血病的疾病治疗具有重要意义。

著录项

期刊名称 Case Reports in Genetics
作者
Marina Araújo Fonzar Hernandes; Terezinha de Jesus Marques-Salles; Hasmik Mkrtchyan; Eliane Maria Soares-Ventura; Edinalva Pereira Leite; Maria Tereza Cartaxo Muniz; Maria Teresa Marquim Nogueira Cornélio; Thomas Liehr; Neide Santos; Maria Luiza Macedo Silva;
展开▼
作者单位

展开▼
年(卷),期 2012(2012),-1
年度 2012
页码 186532
总页数 4
原文格式 PDF
正文语种
中图分类遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome [J] . Marina Araújo FonzarHernandes, Terezinha de JesusMarques-Salles, HasmikMkrtchyan, Case Reports in Genetics . 2012,第1期

机译：B细胞前体ALL的der（21）t（12; 21）的额外副本加上dic（12; 18）导致的ETV6基因缺失且结果差
2. Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol [J] . BarbanyG., AndersenM.K., AutioK., Leukemia Research: A Forum for Studies on Leukemia and Normal Hemopoiesis . 2012,第7期

机译：ETV6和RUNX1基因的其他畸变对根据NOPHO-ALL-2000协议治疗的229 t（12; 21）（p13; q22）阳性B细胞前体急性淋巴细胞白血病无预后影响
3. Involvement of der(12)t(12;21)(p13;q22) and as well as additional rearrangements of chromosome 12 homolog in ETV6/RUNX1-positive acute lymphoblastic leukemia. [J] . Stanchescu R, Betts DR, Rechavi G, Cancer genetics and cytogenetics . 2009,第1期

机译：der（12）t（12; 21）（p13; q22）的参与以及ETV6 / RUNX1阳性急性淋巴细胞白血病中12号染色体同源物的其他重排。
4. THEORETICAL INVESTIGATION OF A HIGH ENERGETIC 2,4,6,8,11,13,15,17,19,22,23,24-DODECANITRO-2,4,6,8,11,13,15,17,19,22,23,24-DODECAAZA-NONACYCLO16.4.1~(9,21).1~(10,20).0~(1,9).0~(3,7).0~(3,16).0~(5,14).0~(7,12).0~(10,18).0~(12,16) TETRACOSANE [C] . Guozheng Zhao, Ming Lu International annual conference of Fraunhofer ITC . 2014

机译：2,4,6,8,11,13,15,17,19,22,23,24-DODECANITRO-2,4,6,8,11,13,15,17,19，的高能理论研究22,23,24-DODECAAZA-NONACYCLO 16.4.1〜（9,21）.1〜（10,20）.0〜（1,9）.0〜（3,7）.0〜（3,16 ）.0〜（5,14）.0〜（7,12）.0〜（10,18）.0〜（12,16）四碳烷
5. From California Academic Content Standards (CACS) to Next Generation Science Standards (NGSS): The Challenge of Science, Technology, Engineering, and Mathematics (STEM) integration in the 21st Century K-12 classroom [D] . DomNwachukwu, Nkechi S. 2018

机译：从加州学术内容标准（CACS）到下一代科学标准（NGSS）：21世纪K-12教室中科学，技术，工程和数学（STEM）集成的挑战
6. SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain [O] . Paul B. Sinclair, Sarra Ryan, Matthew Bashton, -1

机译：通过CN-LOH 12q引起的SH2B3失活与具有iAMP21或其他21号染色体增益的B细胞前体ALL唯一相关
7. SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain [O] . Paul B. Sinclair, Sarra Ryan, Matthew Bashton, 2019

机译：通过CN-LOH 12Q失活的SH2B3失活与B细胞前体都与IAMP21或其他染色体21获得唯一相关

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

摘要

著录项

相似文献

相关主题

期刊订阅