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

N van Engelen, F van Dijk, E Waanders, A Buijs, M A Vermeulen, J L C Loeffen, R P Kuiper, M C J Jongmans

Onderzoeksoutput: Bijdrage aan tijdschriftArtikel

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)349-354
Aantal pagina's6
TijdschriftFamilial Cancer
Volume20
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - okt. 2021

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