Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

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 includingMSH6 and part of theFBXO11 gene. A causative role forMSH6 in cancer development was excluded based on tumor characteristics. The constitutionalFBXO11 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 ofFBXO11 result in BCL-6 overexpression which is a known driver in DLBCL. We therefore consider that a causative relationship between the germlineFBXO11 deletion and the development of DLBCL in this boy is conceivable.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research