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小儿慢性髓性白血病以初发或继发的急变期表现:临床与遗传学特征比较。

Paediatric chronic myeloid leukaemia presenting in de novo or secondary blast phase - a comparison of clinical and genetic characteristics.

机构信息

Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Department of Human Genetics, Hannover Medical School, Hannover, Germany.

出版信息

Br J Haematol. 2021 May;193(3):613-618. doi: 10.1111/bjh.17378. Epub 2021 Mar 9.

Abstract

Additional data on blast phase (BP) chronic myeloid leukaemia (CML) in children and adolescents is essential for improving diagnostic and therapeutic approaches of this rare but serious condition. Here, we describe distinct clinical and genetic characteristics of 18 paediatric patients with de novo (n = 10) and secondary (n = 8) BP CML enrolled in the CML-PAED-II trial and registry. Our findings suggest that paediatric patients exhibit a diverse cytogenetic profile compared to adults with BP CML. In addition, patients with de novo BP CML in this cohort presented at a younger age, whereas patients with secondary BP CML more often harboured complex karyotypes.

摘要

对于提高这种罕见但严重疾病的诊断和治疗方法,儿童和青少年急变期(BP)慢性髓性白血病(CML)的额外数据至关重要。在这里,我们描述了在 CML-PAED-II 试验和登记处登记的 18 例初发(n=10)和继发(n=8)BP CML 儿科患者的独特临床和遗传特征。我们的研究结果表明,与成人 BP CML 相比,儿科患者表现出不同的细胞遗传学特征。此外,该队列中初发 BP CML 患者的发病年龄较小,而继发 BP CML 患者更常伴有复杂核型。

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