Liu Yongming, Xu Junqing, Chu Lina, Yu Limei, Zhang Yanhong, Ma Li, Wang Weihua, Zhang Yangyang, Xu Yimin, Liu Riming
1Clinical Laboratory, Qindao University Medical College Affiliated Yantai Yuhuangding Hospital, No. 20, Yuhuangding East Road, Yan Tai, 264000 China.
2Department of Hematological, Qindao University Medical College Affiliated Yantai Yuhuangding Hospital, No. 20, Yuhuangding East Road, Yan Tai, 264000 China.
Mol Cytogenet. 2020 Apr 10;13:13. doi: 10.1186/s13039-020-00479-1. eCollection 2020.
Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and the prognostic significance is still unclear.
We present the case of a patient with t(15;17)(q22;q21), der(15)t(15;17) and ider(17)(q10)t(15;17)(q22;q21). In particular, the RT-PCR result for of this patient was a false negative and mutational analysis of AML-related genes showed SNP rs2454206 in the gene and yielded negative findings in other genes including , , , , , , , , and . After the early usage of arsenic trioxide combinated with ATRA and vigorous supportive treatment to maintain PLT ≥30×10/L and FIB >1500 mg/L, this patient was under MMR and HCR without any clinical symptoms or signs until now.
False negative reslults of RT-PCR analysis for are rare in APL and ider(17) is even more infrequent. To our knowledge, this is the first reported case of APL with ider(17) and false negative RT-PCR analysis results. The role of ider(17) in APL is still an ongoing investigation and limited by the small number of published cases. The patient reported here benefited from vigorous supportive treatment during the combination of ATRA and arsenic trioxide in induction chemotherapy and the clinical outcome was favorable.
据报道，25%-40%的急性早幼粒细胞白血病（APL）患者除t(15;17)外还存在染色体重排，其中以8号染色体三体最为常见。其他异常则较为少见，尤其是17号染色体等臂(isochromosome 17，ider(17))，其预后意义仍不明确。
我们报告1例患有t(15;17)(q22;q21)、der(15)t(15;17)和ider(17)(q10)t(15;17)(q22;q21)的患者。该患者的 实时荧光定量聚合酶链反应（RT-PCR）结果为假阴性，急性髓系白血病（AML）相关基因突变分析显示 基因存在单核苷酸多态性（SNP）rs2454206，而其他基因（包括 、 、 、 、 、 、 、 及 ）检测结果均为阴性。在早期使用三氧化二砷联合全反式维甲酸（ATRA）并积极进行支持治疗以维持血小板计数（PLT）≥30×10⁹/L及纤维蛋白原（FIB）>1500mg/L后，该患者目前处于分子学完全缓解（MMR）和血液学完全缓解（HCR）状态，且无任何临床症状和体征。
APL患者中 实时荧光定量聚合酶链反应（RT-PCR）分析出现假阴性结果罕见，而17号染色体等臂（ider(17)）更为少见。据我们所知，这是首例报道的伴有17号染色体等臂（ider(17)）且实时荧光定量聚合酶链反应（RT-PCR）分析结果为假阴性的APL病例。17号染色体等臂（ider(17)）在APL中的作用仍在研究中，且受限于已发表病例数量较少。本文报道的患者在诱导化疗期间接受ATRA联合三氧化二砷治疗时受益于积极的支持治疗，临床结局良好。
