Rhabdoid Tumor Predisposition Syndrome. Nemes K, Bens S, Bourdeaut F, Johann P, Kordes U, Siebert R, Frühwald MC. 2017 Dec 7 [updated 2022 May 12]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 29215836 Free Books & Documents. Review. » LINK
Imaging of extracranial malignant rhabdoid tumors. Tüchert SE, Nemes K, Frühwald MC, Vollert K, Kröncke TJ. Rofo. 2022 Aug;194(8):811-815. doi: 10.1055/a-1843-9207. Epub 2022 Jul 7. PMID: 35798334 German. No abstract available. » LINK
Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors. Nemes K, Johann PD, Tüchert S, Melchior P, Vokuhl C, Siebert R, Furtwängler R, Frühwald MC. Cancer Manag Res. 2022 Feb 9;14:479-498. doi: 10.2147/CMAR.S289544. eCollection 2022. PMID: 35173482 Free PMC article. Review. » LINK
Corrigendum to: Molecular subgrouping of atypical teratoid/rhabdoid tumors-a reinvestigation and current consensus. Ho B, Johann PD, Grabovska Y, De Dieu Andrianteranagna MJ, Yao FP, Frühwald M, Hasselblatt M, Bourdeaut F, Williamson D, Huang A, Kool M. Neuro Oncol. 2022 Jul 1;24(7):1213. Doi: 10.1093/neuonc/noaa210. PMID: 33283872 Free PMC article. No abstract available. » LINK
Neurosurgery for eloquent lesions in children: state-of-the-art rationale and technical implications of perioperative neurophysiology. Krieg SM, Bernhard D, Ille S, Meyer B, Combs S, Rotenberg A, Frühwald MC. Neurosurg Focus. 2022 Dec;53(6):E4. doi: 10.3171/2022.9.FOCUS22316. PMID: 36455267. » LINK
Primary cilia contribute to the aggressiveness of atypical teratoid/rhabdoid tumors. Blümel L, Qin N, Berlandi J, Paisana E, Cascão R, Custódia C, Pauck D, Picard D, Langini M, Stühler K, Meyer FD, Göbbels S, Malzkorn B, Liebau MC, Barata JT, Jeibmann A, Kerl K, Erkek S, Kool M, Pfister SM, Johann PD, Frühwald MC, Borkhardt A, Reifenberger G, Faria CC, Fischer U, Hasselblatt M, Bartl J, Remke M. Cell Death Dis. 2022 Sep 20;13(9):806. doi: 10.1038/s41419-022-05243-4. PMID: 36127323 Free PMC article. » LINK
ATRT-SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance.
Federico A, Thomas C, Miskiewicz K, Woltering N, Zin F, Nemes K, Bison B, Johann PD, Hawes D, Bens S, Kordes U, Albrecht S, Dohmen H, Hauser P, Keyvani K, van Landeghem FKH, Lund EL, Scheie D, Mawrin C, Monoranu CM, Parm Ulhøi B, Pietsch T, Reinhard H, Riemenschneider MJ, Sehested A, Sumerauer D, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M. Acta Neuropathol. 2022 Jun;143(6):697-711. doi: 10.1007/s00401-022-02424-5. Epub 2022 Apr 30. PMID: 35501487 Free PMC article. » LINK
Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors.
Graf M, Interlandi M, Moreno N, Holdhof D, Göbel C, Melcher V, Mertins J, Albert TK, Kastrati D, Alfert A, Holsten T, de Faria F, Meisterernst M, Rossig C, Warmuth-Metz M, Nowak J, Meyer Zu Hörste G, Mayère C, Nef S, Johann P, Frühwald MC, Dugas M, Schüller U, Kerl K. Nat Commun. 2022 Mar 22;13(1):1544. doi: 10.1038/s41467-022-29152-4. PMID: 35318328 Free PMC article. » LINK
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Penkert J, Strüwe FJ, Dutzmann CM, Doergeloh BB, Montellier E, Freycon C, Keymling M, Schlemmer HP, Sänger B, Hoffmann B, Gerasimov T, Blattmann C, Fetscher S, Frühwald M, Hettmer S, Kordes U, Ridola V, Kroiss Benninger S, Mastronuzzi A, Schott S, Nees J, Prokop A, Redlich A, Seidel MG, Zimmermann S, Pajtler KW, Pfister SM, Hainaut P, Kratz CP. J Hematol Oncol. 2022 Aug 16;15(1):107. doi: 10.1186/s13045-022-01332-1. PMID: 35974385 Free PMC article. » LINK
Renal Medullary Carcinomas Harbor a Distinct Methylation Phenotype and Display Aberrant Methylation of Genes Related to Early Nephrogenesis.
Fincke VE, Krulik ME, Joshi P, Frühwald MC, Chen YB, Johann PD. Cancers (Basel). 2022 Oct 14;14(20):5044. doi: 10.3390/cancers14205044. PMID: 36291828 Free PMC article. » LINK
Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC.
Hasselblatt M, Thomas C, Federico A, Bens S, Hellström M, Casar-Borota O, Kordes U, Neumann JE, Dottermusch M, Rodriguez FJ, Lo AC, Cheng S, Hendson G, Hukin J, Hartmann C, Koch A, Capper D, Siebert R, Paulus W, Nemes K, Johann PD, Frühwald MC, Kool M. Neuropathol Appl Neurobiol. 2022 Jun;48(4):e12797. doi: 10.1111/nan.12797. Epub 2022 Feb 18. PMID: 35152461. » LINK
Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population.
Nemes K, Johann PD, Steinbügl M, Gruhle M, Bens S, Kachanov D, Teleshova M, Hauser P, Simon T, Tippelt S, Eberl W, Chada M, Lopez VS, Grigull L, Hernáiz-Driever P, Eyrich M, Pears J, Milde T, Reinhard H, Leipold A, van de Wetering M, Gil-da-Costa MJ, Ebetsberger-Dachs G, Kerl K, Lemmer A, Boztug H, Furtwängler R, Kordes U, Vokuhl C, Hasselblatt M, Bison B, Kröncke T, Melchior P, Timmermann B, Gerss J, Siebert R, Frühwald MC. Cancers (Basel). 2022 Apr 27;14(9):2185. doi: 10.3390/cancers14092185. PMID: 35565313 Free PMC article. » LINK
Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
Sparber-Sauer M, Vokuhl C, Seitz G, Sorg B, Tobias M, von Kalle T, Münter M, Bielack SS, Ladenstein R, Ljungman G, Niggli F, Frühwald M, Loff S, Klingebiel T, Koscielniak E. Pediatr Blood Cancer. 2022 Mar;69(3):e29403. doi: 10.1002/pbc.29403. Epub 2021 Oct 11. PMID: 34636137. » LINK
Proton Beam Therapy for Pediatric Tumors of the Central Nervous System-Experiences of Clinical Outcome and Feasibility from the KiProReg Study.
Peters S, Frisch S, Stock A, Merta J, Bäumer C, Blase C, Schuermann E, Tippelt S, Bison B, Frühwald M, Rutkowski S, Fleischhack G, Timmermann B. Cancers (Basel). 2022 Nov 28;14(23):5863. doi: 10.3390/cancers14235863. PMID: 36497345 Free PMC article. » LINK
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.
Hasselblatt M, Thomas C, Federico A, Nemes K, Johann PD, Bison B, Bens S, Dahlum S, Kordes U, Redlich A, Lessel L, Pajtler KW, Mawrin C, Schüller U, Nolte K, Kramm CM, Hinz F, Sahm F, Giannini C, Penkert J, Kratz CP, Pfister SM, Siebert R, Paulus W, Kool M, Frühwald MC. Am J Surg Pathol. 2022 Sep 1;46(9):1277-1283. doi: 10.1097/PAS.0000000000001905. Epub 2022 Apr 22. PMID: 35446794. » LINK
