Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma.
BCL6
DLBCL (diffuse large B-cell lymphoma)
Developmental delay
FBXO11
MSH6
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
16
11
2020
accepted:
10
03
2021
pubmed:
4
4
2021
medline:
27
1
2022
entrez:
3
4
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33811277
doi: 10.1007/s10689-021-00244-2
pii: 10.1007/s10689-021-00244-2
pmc: PMC8484184
doi:
Substances chimiques
F-Box Proteins
0
FBXO11 protein, human
EC 2.1.1.319
Protein-Arginine N-Methyltransferases
EC 2.1.1.319
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
349-354Informations de copyright
© 2021. The Author(s).
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