CBL is a mammalian gene encoding the protein CBL, which is an E3 ubiquitin-protein ligase involved in cell signaling and protein ubiquitination. Pathogenic variants in this gene have been implicated in a number of human cancers, particularly acute myeloid leukemia (AML). Here, we present a 5-year-old male patient with a history of AML, diffuse midline glioma, and left brain lesion with histiocytic features. A variant of uncertain significance (VUS): p.L493F was detected in his CBL gene via clinical evaluation. Protein modeling predicts this variant to be pathogenic. Details of the clinical evaluation and modeling assay are discussed.

CBL是编码蛋白质 CBL 的哺乳动物基因，CBL 是一种 E3 泛素-蛋白质连接酶，参与细胞信号传导和蛋白质泛素化。该基因的致病变异与多种人类癌症有关，尤其是急性髓系白血病 (AML)。在这里，我们介绍了一名 5 岁男性患者，他有 AML、弥漫性中线胶质瘤和具有组织细胞特征的左脑病变。不确定意义的变异（VUS）：通过临床评估在他的CBL基因中检测到 p.L493F 。蛋白质模型预测该变异是致病性的。讨论了临床评估和建模分析的细节。