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BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone
Cancer Genetics ( IF 1.9 ) Pub Date : 2021-02-19 , DOI: 10.1016/j.cancergen.2021.02.007
Yvonne Lisa Behrens 1 , Andrea Schienke 1 , Claudia Davenport 1 , Jana Lentes 1 , Marcel Tauscher 1 , Doris Steinemann 1 , Mareike Rasche 2 , Stephanie Knirsch 3 , Stefanie Joachim 4 , Dirk Reinhardt 2 , Brigitte Schlegelberger 1 , Gudrun Göhring 1
Affiliation  

The co-occurrence of an inversion inv(3)(q21q26)/GATA2-MECOM and a Philadelphia translocation t(9;22)(q34;q11)/BCR-ABL1 in the context of chronic myeloid leukemia (CML) in blast crisis or acute myeloid leukemia (AML) has only rarely been described. To our knowledge, this co-occurrence has been reported in six pediatric patients with CML but not in pediatric patients with AML.

Here, we report on a 7-year-old girl, who, presented with a t(9;22) and inv(3) in 14 of 15 metaphases and an additional monosomy 7 was detected in 5 of these metaphases (ISCN: 46,​XX,​inv(3)(q21q26),​t(9;22)(q34q11)[9]/45,​idem,​-7[5]/46,​XX[1]). The p190 BCR-ABL1 fusion transcript was detected by multiplex PCR and targeted RNA sequencing. Due to these results, a clear distinction between a CML in blast crisis and a BCR-ABL1 positive AML was not possible. The patient was treated according to the treatment recommendations of the AML-BFM study group and additionally received tyrosine kinase inhibitor therapy (Dasatinib). The treatment with Dasatinib was successful in eliminating the inv(3)/t(9;22) clone, but the ancestral inv(3) clone persisted. Based upon these findings we diagnosed an AML with inv(3) and a secondary acquisition of t(9;22). This treatment as well as an allogenic transplantation has led to a complete remission of the disease up to this date (21 months post diagnosis).



中文翻译:

BCR-ABL1 阳性 AML 或 CML 爆炸危机?初始克隆中包含 inv(3) 和 t(9;22) 的儿科病例报告

在慢性粒细胞白血病 (CML) 急变期的背景下,倒置 inv(3)(q21q26)/ GATA2-MECOM和费城易位 t(9;22)(q34;q11)/ BCR-ABL1 的同时发生或急性髓性白血病 (AML) 很少被描述。据我们所知,在 6 名 CML 儿科患者中报告了这种同时发生,但在 AML 儿科患者中没有报道。

在这里,我们报告了一名 7 岁女孩,她在 15 个中期中的 14 个出现 at(9;22) 和 inv(3),并且在其中 5 个中期检测到了额外的单体 7(ISCN:46, XX, inv(3)(q21q26), t(9;22)(q34q11)[9]/45, 同上, -7[5]/46, XX[1])。p190 BCR-ABL1融合转录本通过多重 PCR 和靶向 RNA 测序检测。由于这些结果,爆炸危机中的 CML 和BCR-ABL1之间的明显区别阳性 AML 是不可能的。该患者根据AML-BFM研究组的治疗建议进行治疗,并额外接受酪氨酸激酶抑制剂治疗(达沙替尼)。达沙替尼治疗成功消除了 inv(3)/t(9;22) 克隆,但祖先的 inv(3) 克隆仍然存在。基于这些发现,我们诊断出具有 inv(3) 和继发性 t(9;22) 的 AML。到目前为止(诊断后 21 个月),这种治疗以及同种异体移植使疾病完全缓解。

更新日期:2021-02-28
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