Universität zu Köln

Montesinos-Rongen, Manuel, Schmitz, Roland, Brunn, Anna, Gesk, Stefan, Richter, Julia, Hong, Ke, Wiestler, Otmar D., Siebert, Reiner, Kueppers, Ralf and Deckert, Martina (2010). Mutations of CARD11 but not TNFAIP3 may activate the NF-kappa B pathway in primary CNS lymphoma. Acta Neuropathol., 120 (4). S. 529 - 536. NEW YORK: SPRINGER. ISSN 0001-6322

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Abstract

Primary CNS lymphoma (PCNSL), the intracerebral subgroup of diffuse large B cell lymphoma (DLBCL), shows evidence for aberrant activation of the nuclear factor (NF)-kappa B pathway. In order to identify potential activators of the NF-kappa B complex, we analyzed the CARD11 and TNFAIP3 genes for the presence of somatic mutations and TNFAIP3 for aberrant promoter methylation in PCNSL. We also compared PCNSL to spinal DLBCL, because CARD11 and TNFAIP3 mutations have been described in systemic DLBCL. CARD11 mutations, located in the coiled-coil region, which may activate NF-kappa B, were detected in 16% (5/32) of PCNSL, while TNFAIP3 mutations were detected in 3% (1/32) of PCNSL. In PCNSL, all CARD11 mutations were heterozygous, in-frame, induced amino acid exchanges, and presumably led to activation of this oncogene. Spinal DLBCL harbored mutations of CARD11 and TNFAIP3 in 10% (1/10) and 20% (2/10) of cases, respectively. In both PCNSL and spinal DLBCL, mutations in CARD11 and TNFAIP3 were mutually exclusive. TNFAIP3 was unmethylated in all PCNSLs (30/30) and spinal DLBCLs (10/10). We conclude that mutations of the oncogene CARD11 may contribute to NF-kappa B activation and thereby play a role in the pathogenesis of PCNSL, while, in contrast to systemic DLBCL, inactivation of TNFAIP3 either by mutation or methylation seems to be of minor significance.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Montesinos-Rongen, Manuel UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmitz, Roland UNSPECIFIED UNSPECIFIED UNSPECIFIED Brunn, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Gesk, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Richter, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Hong, Ke UNSPECIFIED UNSPECIFIED UNSPECIFIED Wiestler, Otmar D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Siebert, Reiner UNSPECIFIED UNSPECIFIED UNSPECIFIED Kueppers, Ralf UNSPECIFIED UNSPECIFIED UNSPECIFIED Deckert, Martina UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-494480
DOI:	10.1007/s00401-010-0709-7
Journal or Publication Title:	Acta Neuropathol.
Volume:	120
Number:	4
Page Range:	S. 529 - 536
Date:	2010
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	0001-6322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CENTRAL-NERVOUS-SYSTEM; CELL LYMPHOMA; HODGKINS-LYMPHOMA; A20; GENE; PROLIFERATION; EXPRESSION; REGULATOR; RESPONSES; SURVIVAL Multiple languages Clinical Neurology; Neurosciences; Pathology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/49448