Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations

Acta Neuropathologica

Volumn 125, Issue 3, 2013, Pages 351-358

  Reuss, David E ^a,b   Piro, Rosario M ^a,b   Jones, David T W ^b   Simon, Matthias ^c   Ketter, Ralf ^d   Kool, Marcel ^b   Becker, Albert ^c   Sahm, Felix ^a,b   Pusch, Stefan ^a,b   Meyer, Jochen ^b   Hagenlocher, Christian ^b   Schweizer, Leonille ^a,b   Capper, David ^a,b   Kickingereder, Phillipp ^a,b   Mucha, Jana ^b   Koelsche, Christian ^a,b   Jäger, Natalie ^b   Santarius, Thomas ^e   Tarpey, Patrick S ^f   Stephens, Philip J ^f   Andrew Futreal, P ^f   Wellenreuther, Ruth ^b   Kraus, Jürgen ^g   Lenartz, Doris ^h   Herold Mende, Christel ⁱ   Hartmann, Christian ^j   Mawrin, Christian ^k   Giese, Nathalia ⁱ   Eils, Roland ^a,b   Collins, V Peter ^l   König, Rainer ^a,b   Wiestler, Otmar D ^b   Pfister, Stefan M ^b,i   Von Deimling, Andreas ^a,b   more..

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d SAARLAND UNIVERSITY   (Germany)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^g Addenbrooke's Hospital ^*  (Germany)

^h UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

ⁱ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k OTTO VON GUERICKE UNIVERSITY   (Germany)

^l UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

KLF4; Kr ppel like factor 4; Meningioma; NF2; Secretory; TRAF7

Indexed keywords

GLUTAMINE; KRUPPEL LIKE FACTOR 4; LYSINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXOME; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; HUMAN; HUMAN TISSUE; KRUPPEL LIKE FACTOR 4 GENE; MALE; MENINGIOMA; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SECRETORY MENINGIOMA; SEQUENCE ANALYSIS; SEX RATIO; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TUMOR GENE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 7 GENE; VALIDATION PROCESS;

DNA MUTATIONAL ANALYSIS; GENOMICS; GLUTAMINE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LYSINE; MENINGEAL NEOPLASMS; MENINGIOMA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PEPTIDES AND PROTEINS;

EID: 84878864987     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1093-x     Document Type: Article

References (31)

1. Akaogi K, Nakajima Y, Ito I, Kawasaki S, Oie SH, Murayama A, Kimura K, Yanagisawa J (2009) KLF4 suppresses estrogen-dependent breast cancer growth by inhibiting the transcriptional activity of ERalpha. Oncogene 28:2894-2902
2. Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G (2004) A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. Nat Cell Biol 6:97-105
3. Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R (2013) Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nature genetics
4. Brembeck FH, Rustgi AK (2000) The tissue-dependent keratin 19 gene transcription is regulated by GKLF/KLF4 and Sp1. J biol chem 275:28230-28239
5. Buccoliero AM, Gheri CF, Castiglione F, Ammannati F, Gallina P, Taddei A, Garbini F, Rossi Degl'Innocenti D, Arganini L, Di Lorenzo N, Mennonna P, Taddei GL (2007) Merlin expression in secretory meningiomas: evidence of an NF2-independent pathogenesis? Immunohistochemical study. Appl Immunohistochem Mol Morphol 15:353-357
6. Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Gunel JM, Carrion-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu M, Kaymakcalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert R, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilguvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kilic T, Lifton RP, Noonan JP, Yasuno K, Gunel M (2013) Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science
7. Hartmann C, Sieberns J, Gelhaar C, Simon M, Paulus W, von Deimling A (2006) NF2 mutations in secretory and other rare variants of meningiomas. Brain Pathol 16:15-19
8. Jones D, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho Y-J, Pugh T, Hovestadt V, Stütz A, Rausch T, Warnatz H-J, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber U, Wang Q, Lasitschka B, Bartholomae C, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts M, Russell R, Coco S, Tonini G, Schüller U, Hans V, Graf N, Kim Y-J, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik A, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann M, Frühwald M, Hasselblatt M, Jabado N, Rutkowski S, von Bueren A, Williamson D, Clifford S, McCabe M, Collins V, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott P, Taylor M, Meyerson M, Pomeroy S, Yaspo M-L, Korbel J, Korshunov A, Eils R, Pfister S, Lichter P (2012) Dissecting the genomic complexity underlying medulloblastoma. Nature 488:100-105
9. Korhonen K, Salminen T, Raitanen J, Auvinen A, Isola J, Haapasalo H (2006) Female predominance in meningiomas can not be explained by differences in progesterone, estrogen, or androgen receptor expression. J Neurooncol 80:1-7
10. Li H (2011) Improving SNP discovery by base alignment quality. Bioinformatics 27:1157-1158
11. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760
12. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25:2078-2079
13. Louis D, Ohgaki H, Wiestler O, Cavenee W (2007) World Health Organization Classification of Tumours of the Central Nervous System. In: Bosman F, Jaffe E, Lakhani S, Ohgaki H (eds) World Health Organization Classification of Tumours, 4th edn. IARC, Lyon
14. Luo A, Kong J, Hu G, Liew CC, Xiong M, Wang X, Ji J, Wang T, Zhi H, Wu M, Liu Z (2004) Discovery of Ca2+-relevant and differentiation-associated genes downregulated in esophageal squamous cell carcinoma using cDNA microarray. Oncogene 23:1291-1299
15. McConnell BB, Yang VW (2010) Mammalian Kruppel-like factors in health and diseases. Physiol Rev 90:1337-1381
16. Meyer J, Pusch S, Balss J, Capper D, Mueller W, Christians A, Hartmann C, von Deimling A (2010) PCR and Restriction Endonuclease based Detection of IDH1 Mutations. Brain Pathol 20:298-300
17. Nakamura K, Oshima T, Morimoto T, Ikeda S, Yoshikawa H, Shiwa Y, Ishikawa S, Linak MC, Hirai A, Takahashi H, Altaf-Ul-Amin M, Ogasawara N, Kanaya S (2011) Sequence-specific error profile of Illumina sequencers. Nucleic Acids Res 39:e90
18. Neff MM, Turk E, Kalishman M (2002) Web-based primer design for single nucleotide polymorphism analysis. Trends Genet 18:613-615
19. Probst-Cousin S, Villagran-Lillo R, Lahl R, Bergmann M, Schmid KW, Gullotta F (1997) Secretory meningioma: clinical, histologic, and immunohistochemical findings in 31 cases. Cancer 79:2003-2015
20. Regelsberger J, Hagel C, Emami P, Ries T, Heese O, Westphal M (2009) Secretory meningiomas: a benign subgroup causing life-threatening complications. Neuro Oncol 11:819-824
21. Rowland BD, Peeper DS (2006) KLF4, p21 and context-dependent opposing forces in cancer. Nat Rev Cancer 6:11-23
22. Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Merel P, Delattre O, Thomas G, Nordenskjöld M, Collins VP, Dumanski JP, Rouleau GA (1994) Evidence for the complete inactivation on the NF2 gene in the majority of sporadic meningiomas. Nat Genet 6:180-184
23. Saifudeen Z, Dipp S, Fan H, El-Dahr SS (2005) Combinatorial control of the bradykinin B2 receptor promoter by p53, CREB, KLF-4, and CBP: implications for terminal nephron differentiation. Am J Physiol Ren Physiol 288:F899-F909
24. Schuetz A, Nana D, Rose C, Zocher G, Milanovic M, Koenigsmann J, Blasig R, Heinemann U, Carstanjen D (2011) The structure of the Klf4 DNA-binding domain links to self-renewal and macrophage differentiation. Cell Mol Life Sci 68:3121-3131
25. Stover JF, Dohse NK, Unterberg AW (2000) Significant reduction in brain swelling by administration of nonpeptide kinin B2 receptor antagonist LF 16-0687Ms after controlled cortical impact injury in rats. J Neurosurg 92:853-859
26. Takahashi K, Yamanaka S (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126:663-676
27. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164
28. Wellenreuther R, Kraus J, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A (1995) Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol 146:827-832
29. Wu J, Jiao Y, Dal Molin M, Maitra A, de Wilde RF, Wood LD, Eshleman JR, Goggins MG, Wolfgang CL, Canto MI, Schulick RD, Edil BH, Choti MA, Adsay V, Klimstra DS, Offerhaus GJ, Klein AP, Kopelovich L, Carter H, Karchin R, Allen PJ, Schmidt CM, Naito Y, Diaz LA Jr, Kinzler KW, Papadopoulos N, Hruban RH, Vogelstein B (2011) Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. Proc Natl Acad Sci USA 108:21188-21193
30. Zotti T, Uva A, Ferravante A, Vessichelli M, Scudiero I, Ceccarelli M, Vito P, Stilo R (2011) TRAF7 protein promotes Lys-29-linked polyubiquitination of IkappaB kinase (IKKgamma)/NF-kappaB essential modulator (NEMO) and p65/RelA protein and represses NF-kappaB activation. J Biol Chem 286:22924-22933
31. Zotti T, Vito P, Stilo R (2012) The seventh ring: exploring TRAF7 functions. J Cell Physiol 227:1280-1284