We describe a case of a boy with neurodevelopmental delay and a diffuse large B-cell lymphoma (DLBCL) in whom we discovered a germline de novo 2p16.3 deletion including MSH6 and part of the FBXO11 gene. A causative role for MSH6 in cancer development was excluded based on tumor characteristics. The constitutional FBXO11 deletion explains the neurodevelopmental delay in the patient. The FBXO11 protein is involved in BCL-6 ubiquitination and BCL-6 is required for the germinal center reaction resulting in B cell differentiation. Somatic loss of function alterations of FBXO11 result in BCL-6 overexpression which is a known driver in DLBCL. We therefore consider that a causative relationship between the germline FBXO11 deletion and the development of DLBCL in this boy is conceivable.

我们描述了一个患有神经发育迟缓和弥漫性大 B 细胞淋巴瘤 (DLBCL) 的男孩的病例，我们在该病例中发现了生殖系从头 2p16.3 缺失，包括MSH6和部分FBXO11基因。基于肿瘤特征，排除了MSH6在癌症发展中的致病作用。结构性FBXO11缺失解释了患者的神经发育迟缓。FBXO11 蛋白参与 BCL-6 泛素化，BCL-6 是导致 B 细胞分化的生发中心反应所必需的。FBXO11的体细胞功能改变导致 BCL-6 过表达，这是 DLBCL 中已知的驱动因素。因此，我们认为种系之间存在因果关系这个男孩的FBXO11缺失和 DLBCL 的发展是可以想象的。