Department of Hematology and Transplantology, Faculty of Medicine, Medical University of Gdańsk, Mariana Smoluchowskiego 17, 80-214, Gdańsk, Poland.
Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdańsk, Dębinki 1, 80-211, Gdańsk, Poland.
Int J Hematol. 2022 Sep;116(3):442-445. doi: 10.1007/s12185-022-03331-x. Epub 2022 Apr 16.
Development of secondary CML has only been casually described, with few reports attempting to analyze and explain the mechanisms behind this phenomenon. Reported cases vary with regard to presumed pathogenesis and clinical characteristics, but similarities can be observed. This report presents the case of a patient diagnosed with CALR and ASXL1-mutated primary myelofibrosis who developed CML 13 years after the initial diagnosis. In contrast with previously reported cases, this patient did not have JAK2 or ABL1 gene mutations, and also exhibited primary resistance to tyrosine kinase inhibitor (TKI) treatment. Here, we analyze the molecular evolution of CML and describe successful treatment with concomitant therapy including a TKI and JAK inhibitor. This report aims to deepen clinical experience and further broaden knowledge about chronic myeloproliferative neoplasms.
继发性 CML 的发展仅被偶然描述，很少有研究试图分析和解释这种现象背后的机制。报道的病例在假定的发病机制和临床特征上存在差异，但可以观察到相似之处。本报告介绍了一例 CALR 和 ASXL1 突变的原发性骨髓纤维化患者，该患者在最初诊断后 13 年发展为 CML。与以往报道的病例不同，该患者无 JAK2 或 ABL1 基因突变，且对酪氨酸激酶抑制剂（TKI）治疗也表现出原发性耐药。在这里，我们分析了 CML 的分子进化，并描述了联合治疗（包括 TKI 和 JAK 抑制剂）的成功治疗。本报告旨在加深临床经验，并进一步拓宽对慢性骨髓增生性肿瘤的认识。
