Găman Mihnea-Alexandru, Dugăeşescu Monica, Popescu Dragoş Claudiu
Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Department of Hematology, Centre of Hematology and Bone Marrow Transplantation, Fundeni Clinical Institute, 022328 Bucharest, Romania.
J Clin Med. 2025 Mar 1;14(5):1670. doi: 10.3390/jcm14051670.
. Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia defined by the presence of a genetic abnormality, namely the gene fusion, as the result of a reciprocal balanced translocation between chromosome 17 and chromosome 15. APL is a veritable emergency in hematology due to the risk of early death and coagulopathy if left untreated; thus, a rapid diagnosis is needed in this hematological malignancy. Needless to say, cytogenetic and molecular biology techniques, i.e., fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR), are essential in the diagnosis and management of patients diagnosed with APL. In recent years, the use of artificial intelligence (AI) and its brances, machine learning (ML), and deep learning (DL) in the field of medicine, including hematology, has brought to light new avenues for research in the fields of blood cancers. However, to our knowledge, there is no comprehensive evaluation of the potential applications of AI, ML, and DL in APL. Thus, the aim of the current publication was to evaluate the prospective uses of these novel technologies in APL. . We conducted a comprehensive literature search in PubMed/MEDLINE, SCOPUS, and Web of Science and identified 20 manuscripts eligible for the qualitative analysis. . The included publications highlight the potential applications of ML, DL, and other AI branches in the diagnosis, evaluation, and management of APL. The examined AI models were based on the use of routine biological parameters, cytomorphology, flow-cytometry and/or OMICS, and demonstrated excellent performance metrics: sensitivity, specificity, accuracy, AUROC, and others. . AI can emerge as a relevant tool in the evaluation of APL cases and potentially contribute to more rapid screening and identification of this hematological emergency.
急性早幼粒细胞白血病(APL)是急性髓系白血病的一种亚型,其特征是存在一种基因异常,即由于17号染色体和15号染色体之间的相互平衡易位导致的基因融合。由于未经治疗会有早期死亡和凝血障碍的风险,APL在血液学中是一种名副其实的急症;因此,对于这种血液系统恶性肿瘤需要快速诊断。不用说,细胞遗传学和分子生物学技术,即荧光原位杂交(FISH)和聚合酶链反应(PCR),在诊断和管理APL患者方面至关重要。近年来,人工智能(AI)及其分支机器学习(ML)和深度学习(DL)在包括血液学在内的医学领域的应用,为血癌领域的研究带来了新的途径。然而,据我们所知,目前尚无对AI、ML和DL在APL中潜在应用情况的全面评估报道发表。因此,本出版物的目的是评估这些新技术在APL中的潜在用途。我们在PubMed/MEDLINE、SCOPUS和Web of Science中进行了全面的文献检索,确定了20篇符合定性分析条件的手稿。纳入研究发表文章强调了ML、DL和其他AI分支在APL诊断、评估和管理中的潜在应用。所研究的AI模型基于常规生物学参数应用、细胞形态学、流式细胞术和/或组学技术,并且表现出优异的性能指标:敏感性、特异性、准确性、受试者工作特征曲线下面积(AUROC)等。AI可以成为评估APL病例的相关工具,并可能有助于更快速地筛查和识别这种血液学急症。