Kook Hye Won, Kim Jin Ju, Park Mi Ri, Jang Ji Eun, Min Yoo Hong, Lee Seung-Tae, Shin Saeam, Cheong June-Won
Division of Hematology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
J Cancer. 2022 Sep 11;13(12):3326-3332. doi: 10.7150/jca.76719. eCollection 2022.
: Unlike therapy-related myeloid neoplasms, therapy-related acute lymphoblastic leukaemia (tr-ALL) is poorly defined due to its rarity. However, increasing reports have demonstrated that tr-ALL is a distinct entity with adverse genetic features and clinical outcomes. We compared the clinicopathological characteristics and outcomes of patients diagnosed with tr-ALL ( = 9) or ALL (dn-ALL; = 162) at a single institution from January 2012 to March 2021. The mutational landscapes of eight tr-ALL and 63 dn-ALL patients were compared from a comprehensive next-generation sequencing panel. : All tr-ALL patients had the B-cell phenotype. The most frequently mutated genes were (37%), (14%), (13%), and (11%) in dn-ALL, whereas (38%) and (25%) mutations were most common in tr-ALL. tr-ALL patients did not show a statistically significant difference in overall survival ( = 0.70) or progression-free survival ( = 0.94) compared to dn-ALL patients. In this study, we determined the clinical and genetic profiles of Korean patients with tr-ALL. We found alterations in genes constituting the pathway are more frequent in tr-ALL. Due to the rarity of the disease, multi-institutional studies involving a larger number of patients are required in future study.
与治疗相关的髓系肿瘤不同，治疗相关的急性淋巴细胞白血病（tr-ALL）由于其罕见性而定义不明确。然而，越来越多的报告表明，tr-ALL是一种具有不良遗传特征和临床结局的独特实体。我们比较了2012年1月至2021年3月在单一机构诊断为tr-ALL（n = 9）或非治疗相关ALL（dn-ALL；n = 162）患者的临床病理特征和结局。从一个全面的二代测序平台比较了8例tr-ALL和63例dn-ALL患者的突变图谱。所有tr-ALL患者均具有B细胞表型。dn-ALL中最常发生突变的基因是TP53（37%）、NOTCH1（14%）、FBXW7（13%）和JAK1（11%），而tr-ALL中最常见的突变是NOTCH1（38%）和FBXW7（25%）。与dn-ALL患者相比，tr-ALL患者在总生存期（P = 0.70）或无进展生存期（P = 0.94）方面没有显示出统计学上的显著差异。在本研究中，我们确定了韩国tr-ALL患者的临床和基因特征。我们发现构成NOTCH信号通路的基因改变在tr-ALL中更频繁。由于该疾病的罕见性，未来的研究需要开展涉及更多患者的多机构研究。
