Shi Ting, Huang Xianbo, Zhu Lixia, Li Xueying, Li Li, Ye Xiujin
Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou 310003, Zhejiang Province, China.
Program in Clinical Medicine, School of Medicine of Zhejiang University Hangzhou 310011, Zhejiang Province, China.
Am J Cancer Res. 2020 Aug 1;10(8):2309-2318. eCollection 2020.
Recurrent chromosomal and molecular abnormalities characterize acute lymphoblastic leukemia (ALL) subtypes in both adult and pediatric patients and are of great value for diagnosis, risk stratification, disease monitoring and treatment selection. The Philadelphia (Ph) chromosome, which creates a novel hybrid gene called BCR-ABL1, is the most common cytomolecular genetic abnormality in adult ALL patients. As the understanding of the genetic characteristics of Ph-positive ALL continues to improve, the prognostic value of cytogenetic abnormalities is becoming increasingly recognized. It is likely that the clinical guidelines and recommendations will also evolve. Accordingly, it will be very important to effectively and economically utilize current knowledge to guide treatment decisions within the clinical context of each patient. In this review, we will summarize the advances in the understanding of cytogenetic abnormalities in adult patients with Ph+ ALL, with an emphasis on the incidence, characteristics and prognosis of different types of abnormalities, to provide a basis for the clinical prognostic stratification and precise individualized treatment of these patients.
复发性染色体和分子异常是成人和儿童急性淋巴细胞白血病（ALL）亚型的特征，对诊断、风险分层、疾病监测和治疗选择具有重要价值。费城（Ph）染色体产生一种名为BCR-ABL1的新型融合基因，是成人ALL患者中最常见的细胞分子遗传异常。随着对Ph阳性ALL遗传特征的认识不断提高，细胞遗传学异常的预后价值越来越受到认可。临床指南和建议可能也会随之演变。因此，在每位患者的临床背景下有效且经济地利用现有知识来指导治疗决策将非常重要。在本综述中，我们将总结成人Ph+ ALL患者细胞遗传学异常认识方面的进展，重点关注不同类型异常的发生率、特征和预后，为这些患者的临床预后分层和精确个体化治疗提供依据。
