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Page 1
Melanotic tumors of the nervous system are characterized by distinct mutational, chromosomal and epigenomic profiles.
Koelsche C, Hovestadt V, Jones DT, Capper D, Sturm D, Sahm F, Schrimpf D, Adeberg S, Böhmer K, Hagenlocher C, Mechtersheimer G, Kohlhof P, Mühleisen H, Beschorner R, Hartmann C, Braczynski AK, Mittelbronn M, Buslei R, Becker A, Grote A, Urbach H, Staszewski O, Prinz M, Hewer E, Pfister SM, von Deimling A, Reuss DE. Koelsche C, et al. Brain Pathol. 2015 Mar;25(2):202-8. doi: 10.1111/bpa.12228. Epub 2014 Dec 15. Brain Pathol. 2015. PMID: 25399693 Free PMC article.
Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations.
Reuss DE, Piro RM, Jones DT, Simon M, Ketter R, Kool M, Becker A, Sahm F, Pusch S, Meyer J, Hagenlocher C, Schweizer L, Capper D, Kickingereder P, Mucha J, Koelsche C, Jäger N, Santarius T, Tarpey PS, Stephens PJ, Andrew Futreal P, Wellenreuther R, Kraus J, Lenartz D, Herold-Mende C, Hartmann C, Mawrin C, Giese N, Eils R, Collins VP, König R, Wiestler OD, Pfister SM, von Deimling A. Reuss DE, et al. Among authors: koelsche c. Acta Neuropathol. 2013 Mar;125(3):351-8. doi: 10.1007/s00401-013-1093-x. Epub 2013 Feb 12. Acta Neuropathol. 2013. PMID: 23404370
Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein.
Schweizer L, Koelsche C, Sahm F, Piro RM, Capper D, Reuss DE, Pusch S, Habel A, Meyer J, Göck T, Jones DT, Mawrin C, Schittenhelm J, Becker A, Heim S, Simon M, Herold-Mende C, Mechtersheimer G, Paulus W, König R, Wiestler OD, Pfister SM, von Deimling A. Schweizer L, et al. Among authors: koelsche c. Acta Neuropathol. 2013 May;125(5):651-8. doi: 10.1007/s00401-013-1117-6. Epub 2013 Apr 11. Acta Neuropathol. 2013. PMID: 23575898
AKT1E17K mutations cluster with meningothelial and transitional meningiomas and can be detected by SFRP1 immunohistochemistry.
Sahm F, Bissel J, Koelsche C, Schweizer L, Capper D, Reuss D, Böhmer K, Lass U, Göck T, Kalis K, Meyer J, Habel A, Brehmer S, Mittelbronn M, Jones DT, Schittenhelm J, Urbschat S, Ketter R, Heim S, Mawrin C, Hainfellner JA, Berghoff AS, Preusser M, Becker A, Herold-Mende C, Unterberg A, Hartmann C, Kickingereder P, Collins VP, Pfister SM, von Deimling A. Sahm F, et al. Among authors: koelsche c. Acta Neuropathol. 2013 Nov;126(5):757-62. doi: 10.1007/s00401-013-1187-5. Epub 2013 Oct 6. Acta Neuropathol. 2013. PMID: 24096618
Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system.
Koelsche C, Sahm F, Capper D, Reuss D, Sturm D, Jones DT, Kool M, Northcott PA, Wiestler B, Böhmer K, Meyer J, Mawrin C, Hartmann C, Mittelbronn M, Platten M, Brokinkel B, Seiz M, Herold-Mende C, Unterberg A, Schittenhelm J, Weller M, Pfister S, Wick W, Korshunov A, von Deimling A. Koelsche C, et al. Acta Neuropathol. 2013 Dec;126(6):907-15. doi: 10.1007/s00401-013-1195-5. Epub 2013 Oct 24. Acta Neuropathol. 2013. PMID: 24154961 Free article.
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.
Remke M, Ramaswamy V, Peacock J, Shih DJ, Koelsche C, Northcott PA, Hill N, Cavalli FM, Kool M, Wang X, Mack SC, Barszczyk M, Morrissy AS, Wu X, Agnihotri S, Luu B, Jones DT, Garzia L, Dubuc AM, Zhukova N, Vanner R, Kros JM, French PJ, Van Meir EG, Vibhakar R, Zitterbart K, Chan JA, Bognár L, Klekner A, Lach B, Jung S, Saad AG, Liau LM, Albrecht S, Zollo M, Cooper MK, Thompson RC, Delattre OO, Bourdeaut F, Doz FF, Garami M, Hauser P, Carlotti CG, Van Meter TE, Massimi L, Fults D, Pomeroy SL, Kumabe T, Ra YS, Leonard JR, Elbabaa SK, Mora J, Rubin JB, Cho YJ, McLendon RE, Bigner DD, Eberhart CG, Fouladi M, Wechsler-Reya RJ, Faria CC, Croul SE, Huang A, Bouffet E, Hawkins CE, Dirks PB, Weiss WA, Schüller U, Pollack IF, Rutkowski S, Meyronet D, Jouvet A, Fèvre-Montange M, Jabado N, Perek-Polnik M, Grajkowska WA, Kim SK, Rutka JT, Malkin D, Tabori U, Pfister SM, Korshunov A, von Deimling A, Taylor MD. Remke M, et al. Among authors: koelsche c. Acta Neuropathol. 2013 Dec;126(6):917-29. doi: 10.1007/s00401-013-1198-2. Epub 2013 Oct 31. Acta Neuropathol. 2013. PMID: 24174164 Free PMC article.
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