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Publikationen aus dem EU-RHAB Register 2005 bis aktuell



Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR)

Hasselblatt M, Thomas C, Nemes K, ....Kool M, Frühwald MC.

Neuropathol Appl Neurobiol. 2019 May 11.


Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

Thomas C, Knerlich-Lukoschus F, Reinhard H, ...., Nemes K, ...., Frühwald MC, Hasselblatt M.

Acta Neuropathol. 2019 May;137(5):847-850.


Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

Erkek S, Johann PD, Finetti MA, Drosos Y, Chou HC,..., Frühwald MC, ...., Pfister SM, Kool M.

Cancer Cell. 2019 Jan 14;35(1):95-110.


Functional relevance of genes predicted to be affected by epigenetic alterations in atypical teratoid/rhabdoid tumors

Tegeder I, Thiel K, Erkek S, Johann PD, Berlandi J, Thatikonda V, Frühwald MC, Kool M, Jeibmann A, Hasselblatt M.

J Neurooncol. 2019 Jan;141(1):43-55.


Magnetic resonance imaging surrogates of molecular subgroups in atypical/rhabdoid tumor

Nowak J, Nemes K, Hohm A, Vandergrift LA, Hasselblatt M, Johann PD, Kool M, Frühwald MC, Warmuth-Metz M.

Neuro Oncol. 2018 Nov 12;20(12):1672-1679.


Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Holsten T, Bens S, Oyen F, Nemes K, Hasselblatt M, Kordes U, Siebert R, Frühwald MC, Schneppenheim R, Schüller U.

Eur J Hum Genet. 2018 Aug;26(8):1083-1093.


DNA methylation-based classification of central nervous system tumours

Capper D, Jones DTW, Sill M, Hovestadt V, …, Frühwald MC,…, von Deimling A, Pfister SM.

Nature. 2018 Mar 22; 555(7697):469-474.


Emerging therapeutic targets for the treatment of malignant rhabdoid tumors

Nemes K, Frühwald MC.

Expert Opin Ther Targets. 2018 Apr; 22(4):365-379.


The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort

Nemes K, Clément N, Kachanov D, Bens S, Hasselblatt M, Timmermann B, Schneppenheim R, Gerss J, Siebert R, Furtwängler R, Bourdeaut F, Frühwald MC,EU-RHAB consortium.

Pediatr Blood Cancer 2018 Jun; 65(6).


Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

Johann PD, Bens S, Oyen F, Wagener R, …, Frühwald MC, Paulus W, Kool M, Hasselblatt M.

Am J Surg Pathol. 2018 Apr; 42(4):506-511.


High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience

Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N, Niggli F, Warmann S, Hubertus J, Amman G, Leuschner I, Vokuhl C, Graf N, Frühwald MC

Pediatr Blood Cancer. 2018 Jan; 65(1).


Reduced histone H3 K27 trimethylation is encountered in about 50% of atypical teratoid/rhabdoid tumors (AT/RT) but is not associated with molecular subgroup status and outcome. Acta

Hasselblatt M, Johann PD, Kool M, Frühwald MC.

Neuropathol. 2017 Nov; 134(5):817-818.


BRD9 Inhibition, Alone or in Combination with Cytostatic Compounds as a Therapeutic Approach in Rhabdoid Tumors

Krämer KF, Moreno N, Frühwald MC, Kerl K.

Int J Mol Sci. 2017 Jul 16; 18(7).


Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Ripperger T, Bielack SS, Borkhardt A, …, Frühwald MC, …, Pfister SM, Kratz CP.

Am J Med Genet A. 2017 Apr; 173(4):1017-1037.


SMAD dependent signaling plays a detrimental role in a fly model of SMARCB1-deficiency and the biology of atypical teratoid/rhabdoid tumors

Jeibmann A, Schulz J, Eikmeier K, Johann PD, Thiel K, Tegeder I, Ambrée O, Frühwald MC, Pfister SM, Kool M, Paulus W, Hasselblatt M.

J Neurooncol. 2017 Feb; 131(3):477-484.


Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study

Worst BC, van Tilburg CM, Balasubramanian GP, …, Frühwald MC, …, Jones DT, Witt O.

Eur J Cancer. 2016 Sep; 65:91-101.


Atypical teratoid/rhabdoid tumor arising in a malignant glioma

Bozzai B, Hasselblatt M, Turányi E, Frühwald MC, Siebert R, Bens S, Schneppenheim R, Kool M, Stelczer G, Hortobágyi T, Hauser P.

Pediatr Blood Cancer. 2017 Jan; 64(1):96-99.


Immunotherapy in atypical teratoid-rhabdoid tumors: Data from a survey of the HGG-Immuno Group

van Gool SW, Holm S, Rachor J, Adamson L, Technau A, Maass E, Frühwald MC, Schlegel PG, Eyrich M.

Cytotherapy. 2016 Sep; 18(9):1178-86.


Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.

Johann PD, Hovestadt V, Thomas C, …, Frühwald MC, Kool M, Hasselblatt M.

Brain Pathol. 2017 Jul; 27(4):411-418.


Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007

Bartelheim K, Nemes K, Seeringer A, …,Timmermann B, Warmuth-Metz M, Frühwald MC.. Cancer Med. 2016 Aug; 5(8):1765-75.


Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

Kerl K, Oyen F, Giannikopoulou D, Rössig C, Rellensmann G, Sandkötter J, Brentrup A, Selzer G, Schneppenheim R, Frühwald MC.

Pediatr Blood Cancer. 2016 Aug; 63(8):1451-3.


Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

Hasselblatt M, Thomas C, Hovestadt V, …, Schneppenheim R, Siebert R, Frühwald MC, Kool M.

Acta Neuropathol. 2016 Jul; 132(1):149-51.


Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Johann PD, Erkek S, Zapatka M, Kerl K, …, , Frühwald MC, Lichter P, Eils R, Gajjar A, Hasselblatt M, Pfister SM, Kool M.

Cancer Cell. 2016 Mar 14; 29(3):379-393


New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Sturm D, Orr BA, Toprak UH, Hovestadt V, ..., Frühwald MC, …, Korshunov A, Kool M.

Cell. 2016 Feb 25; 164(5):1060-1072.


Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies

Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN.

Neuro Oncol. 2016 Jun; 18(6):764-78.


Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report

Arnhold V, Oyen F, Schneppenheim R, Haberl H, Koch A, Frühwald MC, Hernáiz Driever P.

Childs Nerv Syst. 2016 Jun; 32(6):1157-61.


Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies.

Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN.

Neuro Oncol. 2016 Jun; 18(6):764-78.


Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report.

Arnhold V, Oyen F, Schneppenheim R, Haberl H, Koch A, Frühwald MC, Hernáiz Driever P.

Childs Nerv Syst. 2016 Jun; 32(6):1157-61.


Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.

Kerl K, Oyen F, Leuschner I, Schneppenheim R, Nagel I, Siebert R, Groll AH, Hartmann W, Barth PJ, Bartelheim K, Seringer A, Wardelmann E, Frühwald MC.

Pediatr Blood Cancer. 2015 May; 62(5):897-900.


Rhabdoid tumors: integrating biological insights with clinical success: a report from the SMARCB1 and Rhabdoid Tumor Symposium, Paris, December 12-14, 2013.

Bourdeaut F, Chi SN, Frühwald MC.

Cancer Genet. 2014 Sep; 207(9):346-51.


Analysis of the antiproliferative effects of 3-deazaneoplanocin A in combination with standard anticancer agents in rhabdoid tumor cell lines

Unland R, Borchardt C, Clemens D, Kool M, Dirksen U, Frühwald MC.

Anticancer Drugs. 2015 Mar; 26(3):301-11.


Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.

Seeringer A, Reinhard H, Hasselblatt M, Schneppenheim R, Siebert R, Bartelheim K, Leuschner I, Frühwald MC.

Cancer Genet. 2014 Sep; 207(9):429-33.


Malignant rhabdoid tumor of the kidney: significantly improved response to pre-operative treatment intensified with doxorubicin

Furtwängler R, Nourkami-Tutdibi N, Leuschner I, Vokuhl C, Niggli F, Kager L, Ebinger M, Frühwald MC, Graf N; GPOH Nephroblastoma Study Committee.

Cancer Genet. 2014 Sep; 207(9):434-6.


SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.

Hasselblatt M, Nagel I, Oyen F, Bartelheim K, …, Frühwald MC, Schneppenheim R.

Acta Neuropathol. 2014 Sep; 128(3):453-6:


Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells

Vu-Han TL, Frühwald MC, Hasselblatt M, Kerl K, Nagel I, Obser T, Oyen F, Siebert R, Schneppenheim R.

Cancer Genet. 2014 Sep; 207(9):390-7.


Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

Bartelheim K, Sumerauer D, Behrends U, Kodetova D, Kucera F, Leuschner I, Neumayer P, Oyen F, Rübe C, Siebert R, Schneppenheim R, Seeringer A, Vasovcak P, Frühwald MC.

Cancer Genet. 2014 Sep; 207(9):379-83.


Identification of genes involved in the biology of atypical teratoid/rhabdoid tumours using Drosophila melanogaster

Jeibmann A, Eikmeier K, Linge A, Kool M, Koos B, Schulz J, Albrecht S, Bartelheim K, Frühwald MC, Pfister SM, Paulus W, Hasselblatt M.

Nat Commun. 2014 Jun 3; 5:4005.


Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry

Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S, Timmermann B, Kortmann RD, Koscielniak E, Schneppenheim R, Warmuth-Metz M, Gerß J, Siebert R, Graf N, Boos J, Frühwald MC.

Klin Padiatr. 2014 May; 226(3):143-8.


Arsenic trioxide inhibits tumor cell growth in malignant rhabdoid tumors in vitro and in vivo by targeting overexpressed Gli1.

Kerl K, Moreno N, Holsten T, Ahlfeld J, Mertins J, Hotfilder M, Kool M, Bartelheim K, Schleicher S, Handgretinger R, Schüller U, Meisterernst M, Frühwald MC.

Int J Cancer. 2014 Aug 15; 135(4):989-95.


High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB)

Benesch M, Bartelheim K, Fleischhack G, …, Klingebiel T, Frühwald MC.

Bone Marrow Transplant. 2014 Mar; 49(3):370-5.


Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)

Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Frühwald MC.

Pediatr Blood Cancer. 2014 May; 61(5):919-21.


Rhabdoid tumors: clinical approaches and molecular targets for innovative therapy

Kerl K, Holsten T, Frühwald MC.

Pediatr Hematol Oncol. 2013 Oct;30(7):587-604. Epub 2013 Jul 12. Review. Erratum in: Pediatr Hematol Oncol. 2014 Sep; 31(6):581.


Bone involvement in atypical teratoid/rhabdoid tumors of the CNS

Warmuth-Metz M, Bison B, Gerber NU, Pietsch T, Hasselblatt M, Frühwald MC.

AJNR Am J Neuroradiol. 2013 Oct; 34(10):2039-42.


Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database

von Hoff K, Hinkes B, Dannenmann-Stern E, …, Frühwald MC, Kortmann RD, Pietsch T, Rutkowski S.

Pediatr Blood Cancer. 2011 Dec 1; 57(6):978-85.


Tumors of the central nervous system in children and adolescents

Frühwald MC, Rutkowski S.

Dtsch Arztebl Int. 2011 Jun; 108(22):390-7.


Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression

Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W.

Am J Surg Pathol. 2011 Jun; 35(6):933-5.


The tyrosine kinase c-Abl promotes proliferation and is expressed in atypical teratoid and malignant rhabdoid tumors

Koos B, Jeibmann A, Lünenbürger H, Mertsch S, Nupponen NN, Roselli A, Leuschner I, Paulus W, Frühwald MC, Hasselblatt M.

Cancer. 2010 Nov 1; 116(21):5075-81.


Systematic analysis of the antiproliferative effects of novel and standard anticancer agents in rhabdoid tumor cell lines

Lünenbürger H, Lanvers-Kaminsky C, Lechtape B, Frühwald MC.

Anticancer Drugs. 2010 Jun; 21(5):514-22.


Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R.

Am J Hum Genet. 2010 Feb 12; 86(2):279-84.


Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis

Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald MC, Schneppenheim R, Siebert R, Paulus W.

J Neuropathol Exp Neurol. 2009 Dec; 68(12):1249-55.


Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor

Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R.

Genes Chromosomes Cancer. 2010 Feb; 49(2):176-81.


Inhibitors of histone deacetylases as potential therapeutic tools for high-risk embryonal tumors of the nervous system of childhood

Furchert SE, Lanvers-Kaminsky C, Juürgens H, Jung M, Loidl A, Frühwald MC.

Int J Cancer. 2007 Apr 15; 120(8):1787-94.


Frequent but borderline methylation of p16 (INK4a) and TIMP3 in medulloblastoma and sPNET revealed by quantitative analyses

Mühlisch J, Bajanowski T, Rickert CH, Roggendorf W, Würthwein G, Jürgens H, Frühwald MC.

J Neurooncol. 2007 May; 83(1):17-29.


Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J.

Pediatr Blood Cancer. 2006 Sep; 47(3):273-8.


Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood

Mühlisch J, Schwering A, Grotzer M, Vince GH, Roggendorf W, Hagemann C, Sörensen N, Rickert CH, Osada N, Jürgens H, Frühwald MC.

Oncogene. 2006 Feb 16; 25(7):1111-7.