Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Hematology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Lab Med. 2022 Nov 3;53(6):e140-e144. doi: 10.1093/labmed/lmac011.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the expansion of myeloid lineage cells. Chronic myeloid leukemia (CML) is characterized by a BCR-ABL1 fusion gene that causes constitutive tyrosine kinase activity. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis (PMF) are frequently associated with driver mutations in genes such as JAK2, CALR, and MPL and are mutually exclusive of BCR-ABL1. Herein, we report the first case study of a patient diagnosed with accelerated-phase CML while undergoing treatment for initial JAK2 V617F-positive, BCR-ABL1-negative PMF. This finding emphasizes the importance of BCR-ABL1 testing in patients with an atypical BCR-ABL1-negative MPN disease course.
骨髓增殖性肿瘤（MPNs）是一种克隆性造血干细胞疾病，其特征是髓系细胞的扩增。慢性髓系白血病（CML）的特征是存在 BCR-ABL1 融合基因，导致组成性酪氨酸激酶活性。真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化（PMF）常与 JAK2、CALR 和 MPL 等基因的驱动突变相关，且与 BCR-ABL1 互斥。在此，我们报告了首例在 JAK2 V617F 阳性、BCR-ABL1 阴性 PMF 初始治疗期间诊断为加速期 CML 的患者病例研究。这一发现强调了在具有非典型 BCR-ABL1 阴性 MPN 疾病过程的患者中进行 BCR-ABL1 检测的重要性。
