Department of Hematology, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, 430071, P.R. China.
Ann Hematol. 2024 Sep;103(9):3801-3804. doi: 10.1007/s00277-024-05887-6. Epub 2024 Jul 12.
ETV6::ABL1 fusion gene is a rare but recurrent genomic rearrangement in hematological malignancies with poor prognosis. Here, we report 1 case of Ph negative myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) who carry ETV6::ABL1 fusion gene. The patient achieved clinical remission after treatment with imatinib. However, disease progression of blast crisis was observed around 2 years later. The patient was treated with second-generation tyrosine kinase inhibitor of flumatinib, yielded a short term second therapeutic response. ETV6::ABL1 positive myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) is rare and may be misdiagnosed by conventional cytogenetical analysis. Early treatment with TKIs, particularly second-generation TKIs, may be beneficial to improve treatment results.
ETV6::ABL1 融合基因是一种罕见但具有不良预后的血液恶性肿瘤中经常发生的基因组重排。在这里,我们报告 1 例 Ph 阴性髓系/淋系肿瘤伴嗜酸粒细胞和酪氨酸激酶基因融合(MLN-TK)患者,其携带 ETV6::ABL1 融合基因。该患者接受伊马替尼治疗后达到临床缓解。然而,大约 2 年后观察到急变期疾病进展。该患者接受第二代酪氨酸激酶抑制剂氟马替尼治疗,获得短期二次治疗反应。ETV6::ABL1 阳性髓系/淋系肿瘤伴嗜酸粒细胞和酪氨酸激酶基因融合(MLN-TK)罕见,可能被常规细胞遗传学分析误诊。早期使用 TKI,特别是第二代 TKI,可能有助于改善治疗结果。