Han Lin, Lu Chen, Ruoyao Huang, Shufang Xue, Gaoyuan Sun, Chengyi Wang, Shuhong Shen, Hui Zhang, Yongzhi Zheng
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引用次数: 0
摘要
根据驱动基因突变和基因表达谱,国际共识分类目前将 "费城染色体阳性(Ph+)B细胞前体急性淋巴细胞白血病(ALL)"分为两个亚型:纯淋巴细胞型和多系累及型(分别为Ph+ ALL-L和-M)。Ph 样 ALL 和 Ph+ ALL 相似的生物学特征促使我们认为存在 Ph 样 ALL-M 亚型。本报告介绍了两例儿科ALL病例(一例Ph+,一例Ph-like),这两例病例均通过多色流式细胞术确定为极小残留病阴性,但通过定量PCR(qPCR)仍能检测到转录物,即使在使用酪氨酸激酶抑制剂联合blinatumomab免疫疗法进行二线治疗后也是如此。利用液滴数字 PCR 技术,在 CD19+ 细胞和非 CD19+ 细胞中均发现了 BCR::ABL1 或 TPM3::PDGFRB 转录本,这表明存在源自造血干细胞的 Ph+ 或 Ph-like ALL-M 亚型。该报告为更好地鉴定、诊断和治疗这些 ALL 亚型提供了信息。
Philadelphia chromosome-positive or Philadelphia chromosome-like B-cell precursor acute lymphoblastic leukemia with multilineage involvement in pediatric patients: a report of two cases and literature review.
Based on driver mutations and gene expression profiles, the International Consensus Classification currently divided the entity 'Philadelphia chromosome-positive (Ph+) B-cell precursor acute lymphoblastic leukemia (ALL)' into two subtypes: lymphoid-only and multilineage involvement (Ph+ ALL-L and -M, respectively). The similar biological characteristics of Ph-like ALL and Ph+ ALL drove us to assume that Ph-like ALL-M subtypes exist. This report presents two pediatric ALL cases (one Ph+ and one Ph-like) with minimal residual disease negativity established by multicolor flow cytometry but persistent transcript detection by quantitative PCR (qPCR) even after second-line treatment with tyrosine kinase inhibitors combined with blinatumomab immunotherapy. Using droplet digital PCR, BCR::ABL1 or TPM3::PDGFRB transcripts were identified in CD19+ cells as well as in non-CD19+ cells, suggesting the presence of a Ph+ or Ph-like ALL-M subtype originating from hematopoietic stem cells. This report provides information for better characterization, diagnosis, and treatment of these ALL subtypes.
期刊介绍:
Pharmacogenetics and Genomics is devoted to the rapid publication of research papers, brief review articles and short communications on genetic determinants in response to drugs and other chemicals in humans and animals. The Journal brings together papers from the entire spectrum of biomedical research and science, including biochemistry, bioinformatics, clinical pharmacology, clinical pharmacy, epidemiology, genetics, genomics, molecular biology, pharmacology, pharmaceutical sciences, and toxicology. Under a single cover, the Journal provides a forum for all aspects of the genetics and genomics of host response to exogenous chemicals: from the gene to the clinic.