PDF(Pubmed)
Abstract：
Chronic myeloid leukemia is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome and the consequent BCR::ABL1 oncoprotein. In the era before the introduction of tyrosine kinase inhibitors (TKIs), the only potentially curative treatment was allogeneic hematopoietic stem cell transplantation (HSCT). Here, we present the case of a patient affected by CML who experienced a relapse 20 years after allogeneic HSCT. Following relapse, the patient was treated with imatinib and bosutinib, resulting in a deep molecular response and successfully discontinued treatment. Additional analysis including whole-exome sequencing and RNA sequencing provided some insights on the molecular mechanisms of the relapse: the identification of the fusion transcript KANSL1::ARL17A (KANSARL), a cancer predisposition fusion gene, could justify a condition of genomic instability which may be associated with the onset and/or probably the late relapse of his CML.
摘要：
慢性粒细胞白血病是一种骨髓增殖性肿瘤，其特征是存在费城染色体和随之而来的BCR::ABL1癌蛋白。在酪氨酸激酶抑制剂（TKIs）引入之前的时代，唯一可能治愈的治疗方法是异基因造血干细胞移植(HSCT).这里,我们介绍了一例CML患者,该患者在同种异体HSCT后20年复发.复发后，患者接受伊马替尼和博舒替尼治疗，导致深层分子反应并成功停止治疗。包括全外显子组测序和RNA测序在内的其他分析为复发的分子机制提供了一些见解：融合转录本KANSL1::ARL17A（KANSARL）的鉴定，一种癌症易感性融合基因,可以证明基因组不稳定的状况可能与他的CML的发作和/或晚期复发有关。
