Wakefield Chelby, Hansen Smith Mary, Dashkevych Ulyana, Proytcheva Maria, Khurana Sharad
Department of Hematology and Oncology, University of Arizona, Tucson, AZ, USA.
Department of Pathology, University of Arizona, Tucson, AZ, USA.
J Med Cases. 2024 Sep;15(9):250-255. doi: 10.14740/jmc4286. Epub 2024 Aug 22.
The identification of a fusion has been seen in about 6% of patients with T lymphoblastic leukemia (T-ALL). It has been described at a lower frequency in B-lymphoblastic leukemia (B-ALL) patients as well. To our knowledge, this is the first case report documenting a fusion in a patient with newly diagnosed myelodysplastic syndrome (MDS) as identified by next-generation sequencing (NGS). A case report by Wang et al recently described a case report of the first fusion in a patient with newly diagnosed acute myeloid leukemia (AML). This shows that this specific translocation is not isolated to lymphoid malignancies, and can be associated with myeloid malignancies as well. The potential use of tyrosine kinase inhibitors (TKIs) as a line of treatment for patients who harbor this translocation makes this finding of particular interest. However, while there have been individual reports noting the effect of TKIs in T-ALLs with fusions, additional research is needed to fully understand the role of this mutation in myeloid derived malignancies, and its corresponding treatment and prognostic implications.
在约6%的T淋巴母细胞白血病（T-ALL）患者中发现了一种融合现象。在B淋巴母细胞白血病（B-ALL）患者中也有较低频率的报道。据我们所知，这是第一例通过下一代测序（NGS）确诊的新诊断骨髓增生异常综合征（MDS）患者中记录到该融合现象的病例报告。Wang等人最近的一篇病例报告描述了第一例新诊断急性髓系白血病（AML）患者中的该融合现象。这表明这种特定的易位并非仅见于淋巴系统恶性肿瘤，也可与髓系恶性肿瘤相关。酪氨酸激酶抑制剂（TKIs）作为携带这种易位患者的一线治疗方法的潜在用途使得这一发现尤为重要。然而，虽然有个别报告指出TKIs对伴有该融合的T-ALL的作用，但仍需要进一步研究以充分了解这种突变在髓系来源恶性肿瘤中的作用及其相应的治疗和预后意义。
