Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Munich Leukemia Laboratory, Munich, Germany.
Leukemia. 2023 Sep;37(9):1860-1867. doi: 10.1038/s41375-023-01958-1. Epub 2023 Jul 15.
In a registry-based analysis of 135 patients with "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" (MLN-TK; FIP1L1::PDGFRA, n = 78; PDGFRB, diverse fusions, n = 26; FGFR1, diverse, n = 9; JAK2, diverse, n = 11; ETV6::ABL1, n = 11), we sought to evaluate the disease-defining characteristics. In 81/135 (60%) evaluable patients, hypereosinophilia (>1.5 × 10/l) was observed in 40/44 (91%) FIP1L1::PDGFRA and 7/7 (100%) ETV6::ABL1 positive patients but only in 13/30 (43%) patients with PDGFRB, FGFR1, and JAK2 fusion genes while 9/30 (30%) patients had no eosinophilia. Monocytosis >1 × 10/l was identified in 27/81 (33%) patients, most frequently in association with hypereosinophilia (23/27, 85%). Overall, a blast phase (BP) was diagnosed in 38/135 (28%) patients (myeloid, 61%; lymphoid, 39%), which was at extramedullary sites in 18 (47%) patients. The comparison between patients with PDGFRA/PDGFRB vs. FGFR1, JAK2, and ETV6::ABL1 fusion genes revealed a similar occurrence of primary BP (17/104, 16% vs. 8/31 26%, p = 0.32), a lower frequency (5/87, 6% vs. 8/23, 35%, p = 0.003) of and a later progression (median 87 vs. 19 months, p = 0.053) into secondary BP, and a better overall survival from diagnosis of BP (17.1 vs. 1.7 years, p < 0.0008). We conclude that hypereosinophilia with or without monocytosis and various phenotypes of BP occur at variable frequencies in MLN-TK.
在一项针对 135 名“伴嗜酸性粒细胞和酪氨酸激酶基因融合的髓系/淋系肿瘤”（MLN-TK；FIP1L1::PDGFRA，n=78；PDGFRB，多种融合，n=26；FGFR1，多种，n=9；JAK2，多种，n=11；ETV6::ABL1，n=11）患者的基于登记的分析中，我们试图评估疾病的特征。在 135 名可评估患者中的 81 名（60%）患者中，44 名 FIP1L1::PDGFRA 阳性（91%）和 7 名 ETV6::ABL1 阳性（100%）患者中观察到嗜酸性粒细胞增多症（>1.5×10/l），而在 30 名 PDGFRB、FGFR1 和 JAK2 融合基因患者中仅 13 名（43%）患者中观察到，而 9 名（30%）患者无嗜酸性粒细胞增多症。27 名患者（33%）中发现单核细胞增多症（>1×10/l），最常与嗜酸性粒细胞增多症相关（23/27，85%）。总体而言，38 名患者（28%）诊断为骨髓增生异常/骨髓增生性肿瘤（BP）（髓系，61%；淋巴系，39%），其中 18 名（47%）患者在骨髓外部位。PDGFRA/PDGFRB 与 FGFR1、JAK2 和 ETV6::ABL1 融合基因患者的比较显示，原发性 BP 的发生率相似（17/104，16% vs. 8/31，26%，p=0.32），发生率较低（5/87，6% vs. 8/23，35%，p=0.003）和更晚的进展（中位时间为 87 个月 vs. 19 个月，p=0.053）进入继发性 BP，并且从 BP 诊断开始的总生存时间更好（17.1 年 vs. 1.7 年，p<0.0008）。我们得出结论，伴或不伴嗜酸性粒细胞增多症和嗜酸性粒细胞增多症的骨髓增生异常/骨髓增生性肿瘤的各种表型以不同的频率发生。
