Department of Hematology, Hospital Clínic, 08036 Barcelona, Spain.
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Cells. 2024 Nov 7;13(22):1839. doi: 10.3390/cells13221839.
The presence of a monoclonal protein detected by serum immunofixation electrophoresis (sIFE) has been reported as an adverse prognostic factor in chronic lymphocytic leukemia (CLL). However, the genetic underpinning of this finding has not been studied. We retrospectively studied 97 CLL patients with simultaneous information on sIFE and genetic alterations detected by next-generation sequencing. sIFE was positive in 49 patients. The most common isotypes were IgG κ (27%) and bi/triclonal (25%). A +sIFE was associated with a higher number of mutated genes [median 2 (range 0-3) vs. 0 (range 0-2), = 0.006], and a higher frequency of unmutated IGHV status (60 vs. 29%, = 0.004). An IgM monoclonal protein was associated with mutations (36% in IgM +sIFE vs. 12% in non-IgM +sIFE or -sIFE, = 0.04), and bi/triclonal proteins with mutations (33% in bi/triclonal vs. 9% in monoclonal +sIFE or -sIFE, = 0.04). These data suggest an association between a +sIFE and a higher mutational burden, and some monoclonal isotypes with specific mutations.
血清免疫固定电泳（sIFE）检测到单克隆蛋白的存在已被报道为慢性淋巴细胞白血病（CLL）的不良预后因素。然而，这一发现的遗传基础尚未得到研究。我们回顾性研究了 97 例同时具有 sIFE 信息和下一代测序检测到的遗传改变的 CLL 患者。49 例患者的 sIFE 呈阳性。最常见的同型为 IgGκ（27%）和双/三克隆（25%）。sIFE 阳性与更多的突变基因相关[中位数 2（范围 0-3）与 0（范围 0-2），= 0.006]，以及更高频率的未突变 IGHV 状态（60%与 29%，= 0.004）。IgM 单克隆蛋白与 突变相关（IgM+sIFE 中为 36%，非 IgM+sIFE 或-sIFE 中为 12%，= 0.04），双/三克隆蛋白与 突变相关（双/三克隆中为 33%，单克隆+sIFE 或-sIFE 中为 9%，= 0.04）。这些数据表明，sIFE 阳性与更高的突变负担以及某些单克隆同型与特定突变之间存在关联。
