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Cryptic t(15;17) acute promyelocytic leukemia with a karyotype of add(11)(p15) and t(13,20)- A case report with a literature review.
Biomolecules and Biomedicine ( IF 3.4 ) Pub Date : 2020-10-09 , DOI: 10.17305/bjbms.2020.5106
Siyu Gu 1 , Jie Zi 2 , Jinlong Ma 2 , Zheng Ge 2
Affiliation  

Most acute promyelocytic leukemia (APL) are characterized by reciprocal translocations t(15;17)(q22;21), which results in the fusion of PML gene at 15q22 with RARα gene at 17q21. However, several complex variant translocations also have been reported. Here we report a 62-year-old man with typical morphology and clinical features of APL with a complex karyotype including add(11)(p15) and t(13,20)(q12;q11.2) without typical t(15;17) assayed by the G-banding analysis. FISH with a PML/RARα dual-color DNA probe showed an atypical fusion signal, RT-qPCR analysis showed PML/RARα fusion transcripts, and NGS detected FLT3, WT1, and KRAS mutations. The patient achieved complete remission after treatment with conventional chemotherapy combined ATRA and ATO. Although the mechanism of this kind of cryptic variant remains unknown, we conclude that the cryptic PML/RARα fusion with add(11)(p15), t(13,20)(q12;q11.2) seems not to alter the effectiveness of chemotherapy combined with ATRA and ATO.

中文翻译:

具有 add(11)(p15) 和 t(13,20) 核型的隐匿性 t(15;17) 急性早幼粒细胞白血病 - 一份带有文献综述的病例报告。

大多数急性早幼粒细胞白血病 (APL) 的特征是相互易位 t(15;17)(q22;21),导致 15q22 的 PML 基因与 17q21 的 RARα 基因融合。然而,也报道了几种复杂的变异易位。在这里,我们报告了一名 62 岁男性,具有典型的 APL 形态和临床特征,具有复杂的核型,包括 add(11)(p15) 和 t(13,20)(q12;q11.2),但没有典型的 t(15; 17) 通过 G 带分析测定。带有 PML/RARα 双色 DNA 探针的 FISH 显示非典型融合信号,RT-qPCR 分析显示 PML/RARα 融合转录本,NGS 检测到 FLT3、WT1 和 KRAS 突变。患者经常规化疗联合ATRA和ATO治疗后达到完全缓解。虽然这种神秘变体的机制仍然未知,
更新日期:2020-10-21
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