Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

Marina Araújo FonzarHernandes; Terezinha de JesusMarques-Salles; HasmikMkrtchyan; Eliane MariaSoares-Ventura; Edinalva PereiraLeite; Maria Tereza CartaxoMuniz; Maria Teresa Marquim NogueiraCornélio; ThomasLiehr; NeideSantos; Maria Luiza MacedoSilva

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Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene 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基因缺失且结果差

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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 andETV6gene 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 secondETV6gene 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，该女孩显示出一个染色体核型，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揭示了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。

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《Case Reports in Genetics》 |2012年第1期|共4页
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Marina Araújo FonzarHernandes; Terezinha de JesusMarques-Salles; HasmikMkrtchyan; Eliane MariaSoares-Ventura; Edinalva PereiraLeite; Maria Tereza CartaxoMuniz; Maria Teresa Marquim NogueiraCornélio; ThomasLiehr; NeideSantos; Maria Luiza MacedoSilva;
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Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

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