Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas
Kaulen L, Denisova E, Hinz F, Hai L, Friedel D, Henegariu O, Hoffmann D, Ito J, Kourtesakis A, Lehnert P, Doubrovinskaia S, Karschnia P, von Baumgarten L, Kessler T, Baehring J, Brors B, Sahm F, Wick W. Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas. Acta Neuropathologica 2023, 146: 499-514. PMID: 37495858, PMCID: PMC10412493, DOI: 10.1007/s00401-023-02613-w.Peer-Reviewed Original ResearchConceptsPrimary CNS lymphomaCNS lymphomaCytotoxic T cell responsesDistinct clinicopathological entityT cell responsesRegulatory cellsClinicopathological entityEpstein-BarrInferior prognosisMonocyte fractionM2 macrophagesJAK/STATMast cellsTumor microenvironmentAberrant somatic hypermutationMolecular classificationComprehensive genetic analysisBulk RNAseq dataStrong expressionChromosomal aberrationsGenetic alterationsPathological informationNumber gainCD70LymphomaPleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart